MEF2C myocyte enhancer factor 2C [Homo sapiens (human)] - Gene

Summary

Official Symbol: MEF2Cprovided by HGNC
Official Full Name: myocyte enhancer factor 2Cprovided by HGNC
Primary source: HGNC:HGNC:6996
See related: Ensembl:ENSG00000081189 MIM:600662; AllianceGenome:HGNC:6996
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NEDHSIL; DEL5q14.3; C5DELq14.3
Summary: This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]
Expression: Broad expression in brain (RPKM 55.2), lymph node (RPKM 17.7) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q14.3

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (88717117..88904105, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (89198250..89385215, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (88012934..88199922, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Direct targets of MEF2C are enriched for genes associated with schizophrenia and cognitive function and are involved in neuron development and mitochondrial function.
Title: Direct targets of MEF2C are enriched for genes associated with schizophrenia and cognitive function and are involved in neuron development and mitochondrial function.
Aberrant ecotropic viral integration site-1 (EVI-1) and myocyte enhancer factor 2 C gene (MEF2C) in adult acute myeloid leukemia are associated with adverse t (9:22) & 11q23 rearrangements.
Title: Aberrant ecotropic viral integration site-1 (EVI-1) and myocyte enhancer factor 2 C gene (MEF2C) in adult acute myeloid leukemia are associated with adverse t (9:22) & 11q23 rearrangements.
MEF2C regulates NK cell effector functions through control of lipid metabolism.
Title: MEF2C regulates NK cell effector functions through control of lipid metabolism.
Role of MEF2C in the Endothelial Cells Derived from Human Induced Pluripotent Stem Cells.
Title: Role of MEF2C in the Endothelial Cells Derived from Human Induced Pluripotent Stem Cells.
MEF2C and miR-194-5p: New Players in Triple Negative Breast Cancer Tumorigenesis.
Title: MEF2C and miR-194-5p: New Players in Triple Negative Breast Cancer Tumorigenesis.
[Clinical and genetic analysis of two children with Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language due to de novo variants of MEF2C gene].
Title: [Clinical and genetic analysis of two children with Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language due to de novo variants of MEF2C gene].
ERK5 Cooperates With MEF2C to Regulate Nr4a1 Transcription in MA-10 and MLTC-1 Leydig Cells.
Title: ERK5 Cooperates With MEF2C to Regulate Nr4a1 Transcription in MA-10 and MLTC-1 Leydig Cells.
Refining patterns of MEF2C effects in white matter microstructure and psychiatric features.
Title: Refining patterns of MEF2C effects in white matter microstructure and psychiatric features.
Silencing of lncRNA KLF3-AS1 represses cell growth in osteosarcoma via miR-338-3p/MEF2C axis.
Title: Silencing of lncRNA KLF3-AS1 represses cell growth in osteosarcoma via miR-338-3p/MEF2C axis.
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models.
Title: Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models.

Submit: New GeneRIF Correction See all GeneRIFs (142)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Intellectual disability, autosomal dominant 20 MedGen: C3150700 OMIM: 613443 GeneReviews: MEF2C-Related Disorder	Compare labs

Copy number response

Description
Copy number response Triplosensitivity Little evidence for dosage pathogenicity (Last evaluated 2020-02-26) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-02-26) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. EBI GWAS Catalog EBI GWAS CatalogPubMed
Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic loci for retinal arteriolar microcirculation. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density. EBI GWAS Catalog EBI GWAS CatalogPubMed
New gene functions in megakaryopoiesis and platelet formation. EBI GWAS Catalog EBI GWAS CatalogPubMed
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MEF2C_2028 (e-PCR)
- UniSTS:280844

D5S1705 (e-PCR)
- UniSTS:83245

Mef2c (e-PCR), detects polymorphism
- UniSTS:498478

STS-Z40067 (e-PCR)
- UniSTS:33841

SGC30054 (e-PCR)
- UniSTS:69948

D5S2436 (e-PCR)
- UniSTS:68161

L28334 (e-PCR)
- UniSTS:76119

SHGC-106419 (e-PCR)
- UniSTS:169835

SHGC-56442 (e-PCR)
- UniSTS:28275

MEF2C (e-PCR)
- UniSTS:504947

SHGC-60204 (e-PCR)
- UniSTS:41089

Mef2c (e-PCR), detects polymorphism
- UniSTS:265602

Mef2c (e-PCR), detects polymorphism
- UniSTS:265603

RH121542 (e-PCR)
- UniSTS:134283

SGC30495 (e-PCR)
- UniSTS:62611

D5S1755 (e-PCR)
- UniSTS:59029

RH103877 (e-PCR)
- UniSTS:98202

Mef2c (e-PCR), detects polymorphism
- UniSTS:496803

RH120393 (e-PCR)
- UniSTS:132536

SHGC-81868 (e-PCR)
- UniSTS:184248

SHGC-112475 (e-PCR)
- UniSTS:168637

RH121467 (e-PCR)
- UniSTS:134595

SHGC-60182 (e-PCR)
- UniSTS:31175

WI-11682 (e-PCR)
- UniSTS:35275

1372 (e-PCR)
- UniSTS:34511

G10647 (e-PCR)
- UniSTS:17885

RH93636 (e-PCR)
- UniSTS:91369

Mef2c (e-PCR), detects polymorphism
- UniSTS:143852

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables histone deacetylase binding	IBA Inferred from Biological aspect of Ancestor more info
enables minor groove of adenine-thymine-rich DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_negative_effect AMPA selective glutamate receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in B cell homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in B cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in B cell receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_negative_effect NMDA selective glutamate receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in blood vessel development	ISS Inferred from Sequence or Structural Similarity more info
involved_in blood vessel remodeling	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac ventricle formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell morphogenesis involved in neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to calcium ion	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to fluid shear stress	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to lipopolysaccharide	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to parathyroid hormone stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to transforming growth factor beta stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to trichostatin A	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to xenobiotic stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in chondrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in endochondral ossification	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial cell proliferation involved in renal tubule morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in excitatory postsynaptic potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in germinal center formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in glomerulus morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
involved_in heart development	IEP Inferred from Expression Pattern more info	PubMed
involved_in heart development	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart development	NAS Non-traceable Author Statement more info	PubMed
involved_in heart looping	ISS Inferred from Sequence or Structural Similarity more info
involved_in humoral immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in learning or memory	ISS Inferred from Sequence or Structural Similarity more info
involved_in melanocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in muscle cell fate determination	ISS Inferred from Sequence or Structural Similarity more info
involved_in muscle organ development	TAS Traceable Author Statement more info	PubMed
involved_in myotube differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in negative regulation of blood vessel endothelial cell migration	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neuron apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of ossification	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of vascular associated smooth muscle cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of vascular associated smooth muscle cell migration	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of vascular associated smooth muscle cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of vascular associated smooth muscle cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of vascular endothelial cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in nephron tubule epithelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in neural crest cell differentiation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in neuron development	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in osteoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in outflow tract morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in platelet formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of B cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of alkaline phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of behavioral fear response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of bone mineralization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cardiac muscle cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cardiac muscle cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of macrophage apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of myoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of osteoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of skeletal muscle cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in primary heart field specification	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of dendritic spine development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of germinal center formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of megakaryocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neuron apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neurotransmitter secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of synapse assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of synaptic activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of synaptic plasticity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of synaptic transmission, glutamatergic	ISS Inferred from Sequence or Structural Similarity more info
involved_in renal tubule morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to ischemia	ISS Inferred from Sequence or Structural Similarity more info
involved_in secondary heart field specification	ISS Inferred from Sequence or Structural Similarity more info
involved_in sinoatrial valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal muscle tissue development	ISS Inferred from Sequence or Structural Similarity more info
involved_in smooth muscle cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventricular cardiac muscle cell differentiation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in postsynapse	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: myocyte-specific enhancer factor 2C

Names: MADS box transcription enhancer factor 2, polypeptide C

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023427.1 RefSeqGene

Range

25922..191989

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001131005.2 → NP_001124477.1 myocyte-specific enhancer factor 2C isoform 2

See identical proteins and their annotated locations for NP_001124477.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AC008525, AL833268, AL833274, BP231922, L08895

Consensus CDS

CCDS47244.1

UniProtKB/TrEMBL

B2R681

Related

ENSP00000389610.2, ENST00000424173.6

Conserved Domains (2) summary

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...

pfam12347
Location:97 → 150

HJURP_C; Holliday junction regulator protein family C-terminal repeat
NM_001193347.1 → NP_001180276.1 myocyte-specific enhancer factor 2C isoform 3

See identical proteins and their annotated locations for NP_001180276.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 3, which is longer than isoform 1.

Source sequence(s)

AC008525, AL833268, AL833274, BP231922, L08895

Consensus CDS

CCDS54878.1

UniProtKB/TrEMBL

B2R681

Related

ENSP00000340874.5, ENST00000340208.9

Conserved Domains (3) summary

COG5068
Location:1 → 263

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...

pfam12347
Location:117 → 170

HJURP_C; Holliday junction regulator protein family C-terminal repeat
NM_001193348.1 → NP_001180277.1 myocyte-specific enhancer factor 2C isoform 4

See identical proteins and their annotated locations for NP_001180277.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and lacks two alternate in-frame exons in the coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.

Source sequence(s)

AC008525, AL833268, FM163484, L08895

Consensus CDS

CCDS54877.1

UniProtKB/TrEMBL

B2R681

Related

ENSP00000487311.1, ENST00000628656.2

Conserved Domains (2) summary

COG5068
Location:1 → 229

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001193349.3 → NP_001180278.1 myocyte-specific enhancer factor 2C isoform 5

See identical proteins and their annotated locations for NP_001180278.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR, lacks an alternate in-frame exon in the 5' coding region and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 5), compared to isoform 1. Variants 5 and 12 both encode the same isoform (5).

Source sequence(s)

AC008525, AC008835

Consensus CDS

CCDS78030.1

UniProtKB/TrEMBL

B2R681, D8L7E9

Conserved Domains (1) summary

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001193350.2 → NP_001180279.1 myocyte-specific enhancer factor 2C isoform 1

See identical proteins and their annotated locations for NP_001180279.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1, 6, and 9-11 all encode the same isoform (1).

Source sequence(s)

AC008525, AL833268, BC026341, L08895

Consensus CDS

CCDS47245.1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681

Related

ENSP00000396219.2, ENST00000437473.6

Conserved Domains (2) summary

COG5068
Location:1 → 245

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001308002.3 → NP_001294931.1 myocyte-specific enhancer factor 2C isoform 6

See identical proteins and their annotated locations for NP_001294931.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (6) is shorter than isoform 1. Variants 7 and 13 both encode the same isoform (6).

Source sequence(s)

AC008525, AC008835

Consensus CDS

CCDS78034.1

UniProtKB/TrEMBL

B2R681

Related

ENSP00000423597.2, ENST00000508569.5

Conserved Domains (2) summary

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...

pfam12347
Location:107 → 152

HJURP_C; Holliday junction regulator protein family C-terminal repeat
NM_001363581.2 → NP_001350510.1 myocyte-specific enhancer factor 2C isoform 7

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' UTR, the 3' UTR, and the 3' coding sequence compared to variant 1. The resulting isoform (7) has a shorter and distinct C-terminus compared to isoform 1. Variants 8 and 14-17 all encode the same isoform (7).

Source sequence(s)

AC008525, AC008835

Consensus CDS

CCDS87313.1

UniProtKB/TrEMBL

B2R681

Conserved Domains (2) summary

COG5068
Location:1 → 245

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001364329.2 → NP_001351258.1 myocyte-specific enhancer factor 2C isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (9), as well as variants 1, 6, 10, and 11, encodes isoform 1.

Source sequence(s)

AC008525, AC008835

Consensus CDS

CCDS47245.1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681

Conserved Domains (2) summary

COG5068
Location:1 → 245

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001364330.2 → NP_001351259.1 myocyte-specific enhancer factor 2C isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (10), as well as variants 1, 6, 9, and 11, encodes isoform 1.

Source sequence(s)

AC008525, AC008835

Consensus CDS

CCDS47245.1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681

Conserved Domains (2) summary

COG5068
Location:1 → 245

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001364331.2 → NP_001351260.1 myocyte-specific enhancer factor 2C isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (11), as well as variants 1, 6, 9, and 10, encodes isoform 1.

Source sequence(s)

AC008525, AC008835

Consensus CDS

CCDS47245.1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681

Conserved Domains (2) summary

COG5068
Location:1 → 245

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001364332.2 → NP_001351261.1 myocyte-specific enhancer factor 2C isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (12), as well as variant 5, encodes isoform 5.

Source sequence(s)

AC008525, AC008835

Consensus CDS

CCDS78030.1

UniProtKB/TrEMBL

B2R681, D8L7E9

Related

ENSP00000487184.1, ENST00000626391.2

Conserved Domains (1) summary

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001364333.2 → NP_001351262.1 myocyte-specific enhancer factor 2C isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (13), as well as variant 7, encodes isoform 6.

Source sequence(s)

AC008525, AC008835

Consensus CDS

CCDS78034.1

UniProtKB/TrEMBL

B2R681

Related

ENSP00000490354.1, ENST00000637481.1

Conserved Domains (2) summary

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...

pfam12347
Location:107 → 152

HJURP_C; Holliday junction regulator protein family C-terminal repeat
NM_001364334.2 → NP_001351263.1 myocyte-specific enhancer factor 2C isoform 7

Status: REVIEWED

Description

Transcript Variant: This variant (14), as well as variants 8, 15, 16, and 17, encodes isoform 7.

Source sequence(s)

AC008525, AC008835

Consensus CDS

CCDS87313.1

UniProtKB/TrEMBL

B2R681

Conserved Domains (2) summary

COG5068
Location:1 → 245

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001364335.2 → NP_001351264.1 myocyte-specific enhancer factor 2C isoform 7

Status: REVIEWED

Description

Transcript Variant: This variant (15), as well as variants 8, 14, 16, and 17, encodes isoform 7.

Source sequence(s)

AC008525, AC008835

Consensus CDS

CCDS87313.1

UniProtKB/TrEMBL

B2R681

Related

ENSP00000426665.2, ENST00000514028.5

Conserved Domains (2) summary

COG5068
Location:1 → 245

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001364336.2 → NP_001351265.1 myocyte-specific enhancer factor 2C isoform 7

Status: REVIEWED

Description

Transcript Variant: This variant (16), as well as variants 8, 14, 15, and 17, encodes isoform 7.

Source sequence(s)

AC008525, AC008835

Consensus CDS

CCDS87313.1

UniProtKB/TrEMBL

B2R681

Related

ENSP00000424606.1, ENST00000514015.5

Conserved Domains (2) summary

COG5068
Location:1 → 245

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001364337.2 → NP_001351266.1 myocyte-specific enhancer factor 2C isoform 7

Status: REVIEWED

Description

Transcript Variant: This variant (17), as well as variants 8, 14, 15, and 16, encodes isoform 7.

Source sequence(s)

AC008525, AC008835

Consensus CDS

CCDS87313.1

UniProtKB/TrEMBL

B2R681

Related

ENSP00000490630.1, ENST00000636998.1

Conserved Domains (2) summary

COG5068
Location:1 → 245

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001364338.2 → NP_001351267.1 myocyte-specific enhancer factor 2C isoform 8

Status: REVIEWED

Source sequence(s)

AC008525, AC008835

UniProtKB/TrEMBL

B2R681

Conserved Domains (3) summary

COG5068
Location:1 → 263

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...

pfam12347
Location:117 → 170

HJURP_C; Holliday junction regulator protein family C-terminal repeat
NM_001364339.2 → NP_001351268.1 myocyte-specific enhancer factor 2C isoform 9

Status: REVIEWED

Description

Transcript Variant: This variant (19), as well as variants 20, 21, and 22, encodes isoform 9.

Source sequence(s)

AC008525, AC008835

Consensus CDS

CCDS93740.1

UniProtKB/TrEMBL

A0A0R4J2G5, B2R681

Related

ENSP00000422390.2, ENST00000510942.5

Conserved Domains (2) summary

COG5068
Location:1 → 245

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001364340.2 → NP_001351269.1 myocyte-specific enhancer factor 2C isoform 9

Status: REVIEWED

Description

Transcript Variant: This variant (20), as well as variants 19, 21, and 22, encodes isoform 9.

Source sequence(s)

AC008525, AC008835

Consensus CDS

CCDS93740.1

UniProtKB/TrEMBL

A0A0R4J2G5, B2R681

Conserved Domains (2) summary

COG5068
Location:1 → 245

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001364341.2 → NP_001351270.1 myocyte-specific enhancer factor 2C isoform 9

Status: REVIEWED

Description

Transcript Variant: This variant (21), as well as variants 19, 20, and 22, encodes isoform 9.

Source sequence(s)

AC008525, AC008835

Consensus CDS

CCDS93740.1

UniProtKB/TrEMBL

A0A0R4J2G5, B2R681

Conserved Domains (2) summary

COG5068
Location:1 → 245

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001364342.2 → NP_001351271.1 myocyte-specific enhancer factor 2C isoform 9

Status: REVIEWED

Description

Transcript Variant: This variant (22), as well as variants 19, 20, and 21, encodes isoform 9.

Source sequence(s)

AC008525, AC008835

Consensus CDS

CCDS93740.1

UniProtKB/TrEMBL

A0A0R4J2G5, B2R681

Conserved Domains (2) summary

COG5068
Location:1 → 245

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001364343.2 → NP_001351272.1 myocyte-specific enhancer factor 2C isoform 10

Status: REVIEWED

Source sequence(s)

AC008525, AC008835

Consensus CDS

CCDS93738.1

UniProtKB/TrEMBL

A0A0D9SFD0, B2R681

Conserved Domains (2) summary

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...

pfam12347
Location:97 → 150

HJURP_C; Holliday junction regulator protein family C-terminal repeat
NM_001364344.2 → NP_001351273.1 myocyte-specific enhancer factor 2C isoform 11

Status: REVIEWED

Source sequence(s)

AC008525, AC008835

UniProtKB/TrEMBL

B2R681

Conserved Domains (1) summary

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001364345.2 → NP_001351274.1 myocyte-specific enhancer factor 2C isoform 12

Status: REVIEWED

Description

Transcript Variant: This variant (25), as well as variants 26 and 27, encodes isoform 12.

Source sequence(s)

AC008525, AC008835

Conserved Domains (2) summary

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...

pfam12347
Location:107 → 153

HJURP_C; Holliday junction regulator protein family C-terminal repeat
NM_001364346.2 → NP_001351275.1 myocyte-specific enhancer factor 2C isoform 12

Status: REVIEWED

Description

Transcript Variant: This variant (26), as well as variants 25 and 27, encodes isoform 12.

Source sequence(s)

AC008525, AC008835

Related

ENSP00000425636.1, ENST00000506554.5

Conserved Domains (2) summary

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...

pfam12347
Location:107 → 153

HJURP_C; Holliday junction regulator protein family C-terminal repeat
NM_001364347.2 → NP_001351276.1 myocyte-specific enhancer factor 2C isoform 12

Status: REVIEWED

Description

Transcript Variant: This variant (27), as well as variants 25 and 26, encodes isoform 12.

Source sequence(s)

AC008525, AC008835

Conserved Domains (2) summary

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...

pfam12347
Location:107 → 153

HJURP_C; Holliday junction regulator protein family C-terminal repeat
NM_001364348.2 → NP_001351277.1 myocyte-specific enhancer factor 2C isoform 13

Status: REVIEWED

Description

Transcript Variant: This variant (28), as well as variants 29 and 30, encodes isoform 13.

Source sequence(s)

AC008525, AC008835

Conserved Domains (2) summary

COG5068
Location:1 → 245

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001364349.2 → NP_001351278.1 myocyte-specific enhancer factor 2C isoform 13

Status: REVIEWED

Description

Transcript Variant: This variant (29), as well as variants 28 and 30, encodes isoform 13.

Source sequence(s)

AC008525, AC008835

Conserved Domains (2) summary

COG5068
Location:1 → 245

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001364350.2 → NP_001351279.1 myocyte-specific enhancer factor 2C isoform 13

Status: REVIEWED

Description

Transcript Variant: This variant (30), as well as variants 28 and 29, encodes isoform 13.

Source sequence(s)

AC008525, AC008835

Conserved Domains (2) summary

COG5068
Location:1 → 245

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001364352.2 → NP_001351281.1 myocyte-specific enhancer factor 2C isoform 14

Status: REVIEWED

Source sequence(s)

AC008525, AC008835

Conserved Domains (2) summary

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...

pfam12347
Location:97 → 150

HJURP_C; Holliday junction regulator protein family C-terminal repeat
NM_001364353.2 → NP_001351282.1 myocyte-specific enhancer factor 2C isoform 15

Status: REVIEWED

Source sequence(s)

AC008525

UniProtKB/TrEMBL

A0A0D9SGF3, A0A9L9PYA3

Related

ENSP00000516755.1, ENST00000707127.1
NM_001364354.2 → NP_001351283.1 myocyte-specific enhancer factor 2C isoform 16

Status: REVIEWED

Description

Transcript Variant: This variant (33), as well as variant 34, encodes isoform 16.

Source sequence(s)

AC008525, AC008835

Conserved Domains (1) summary

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001364355.2 → NP_001351284.1 myocyte-specific enhancer factor 2C isoform 16

Status: REVIEWED

Description

Transcript Variant: This variant (34), as well as variant 33, encodes isoform 16.

Source sequence(s)

AC008525, AC008835

Conserved Domains (1) summary

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
NM_001364356.2 → NP_001351285.1 myocyte-specific enhancer factor 2C isoform 17

Status: REVIEWED

Source sequence(s)

AC008525

UniProtKB/TrEMBL

A0A0D9SGF3

Related

ENSP00000487437.2, ENST00000503554.4
NM_001364357.2 → NP_001351286.1 myocyte-specific enhancer factor 2C isoform 18

Status: REVIEWED

Source sequence(s)

AC008525

UniProtKB/TrEMBL

A0A0D9SGF3
NM_002397.5 → NP_002388.2 myocyte-specific enhancer factor 2C isoform 1

See identical proteins and their annotated locations for NP_002388.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1. Variants 1, 6, and 9-11 all encode the same isoform (1).

Source sequence(s)

AC008525, AL833268, L08895

Consensus CDS

CCDS47245.1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681

Related

ENSP00000421925.5, ENST00000504921.7

Conserved Domains (2) summary

COG5068
Location:1 → 245

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

88717117..88904105 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011543396.4 → XP_011541698.1 myocyte-specific enhancer factor 2C isoform X1

See identical proteins and their annotated locations for XP_011541698.1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681

Conserved Domains (2) summary

COG5068
Location:1 → 245

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
XM_017009478.3 → XP_016864967.1 myocyte-specific enhancer factor 2C isoform X4

UniProtKB/TrEMBL

B2R681

Conserved Domains (2) summary

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...

pfam12347
Location:97 → 150

HJURP_C; Holliday junction regulator protein family C-terminal repeat
XM_047417190.1 → XP_047273146.1 myocyte-specific enhancer factor 2C isoform X3

UniProtKB/TrEMBL

B2R681

Related

ENSP00000486554.1, ENST00000629612.2
XM_047417181.1 → XP_047273137.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_047417202.1 → XP_047273158.1 myocyte-specific enhancer factor 2C isoform X4

UniProtKB/TrEMBL

B2R681
XM_047417191.1 → XP_047273147.1 myocyte-specific enhancer factor 2C isoform X3

UniProtKB/TrEMBL

B2R681
XM_047417182.1 → XP_047273138.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_047417196.1 → XP_047273152.1 myocyte-specific enhancer factor 2C isoform X3

UniProtKB/TrEMBL

B2R681
XM_047417203.1 → XP_047273159.1 myocyte-specific enhancer factor 2C isoform X4

UniProtKB/TrEMBL

B2R681
XM_047417192.1 → XP_047273148.1 myocyte-specific enhancer factor 2C isoform X3

UniProtKB/TrEMBL

B2R681
XM_047417194.1 → XP_047273150.1 myocyte-specific enhancer factor 2C isoform X3

UniProtKB/TrEMBL

B2R681
XM_047417188.1 → XP_047273144.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_047417217.1 → XP_047273173.1 myocyte-specific enhancer factor 2C isoform X8

UniProtKB/TrEMBL

B2R681
XM_047417201.1 → XP_047273157.1 myocyte-specific enhancer factor 2C isoform X3

UniProtKB/TrEMBL

B2R681
XM_047417185.1 → XP_047273141.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_047417193.1 → XP_047273149.1 myocyte-specific enhancer factor 2C isoform X3

UniProtKB/TrEMBL

B2R681
XM_005248511.4 → XP_005248568.1 myocyte-specific enhancer factor 2C isoform X1

See identical proteins and their annotated locations for XP_005248568.1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681

Conserved Domains (2) summary

COG5068
Location:1 → 245

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
XM_024446058.2 → XP_024301826.1 myocyte-specific enhancer factor 2C isoform X2

UniProtKB/TrEMBL

A0A0D9SGI5, B2R681

Conserved Domains (2) summary

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...

pfam12347
Location:97 → 150

HJURP_C; Holliday junction regulator protein family C-terminal repeat
XM_047417195.1 → XP_047273151.1 myocyte-specific enhancer factor 2C isoform X3

UniProtKB/TrEMBL

B2R681
XM_024446055.2 → XP_024301823.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681

Conserved Domains (2) summary

COG5068
Location:1 → 245

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
XM_047417199.1 → XP_047273155.1 myocyte-specific enhancer factor 2C isoform X3

UniProtKB/TrEMBL

B2R681
XM_047417186.1 → XP_047273142.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_047417189.1 → XP_047273145.1 myocyte-specific enhancer factor 2C isoform X2

UniProtKB/TrEMBL

A0A0D9SGI5, B2R681

Related

ENSP00000487538.1, ENST00000625585.2
XM_047417197.1 → XP_047273153.1 myocyte-specific enhancer factor 2C isoform X3

UniProtKB/TrEMBL

B2R681
XM_047417183.1 → XP_047273139.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_047417187.1 → XP_047273143.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_047417198.1 → XP_047273154.1 myocyte-specific enhancer factor 2C isoform X3

UniProtKB/TrEMBL

B2R681
XM_047417184.1 → XP_047273140.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681

Related

ENSP00000490473.1, ENST00000636294.1
XM_024446059.2 → XP_024301827.1 myocyte-specific enhancer factor 2C isoform X2

UniProtKB/TrEMBL

A0A0D9SGI5, B2R681

Conserved Domains (2) summary

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...

pfam12347
Location:97 → 150

HJURP_C; Holliday junction regulator protein family C-terminal repeat
XM_047417200.1 → XP_047273156.1 myocyte-specific enhancer factor 2C isoform X3

UniProtKB/TrEMBL

B2R681
XM_024446056.2 → XP_024301824.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681

Conserved Domains (2) summary

COG5068
Location:1 → 245

ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]

cd00265
Location:2 → 78

MADS_MEF2_like; MEF2 (myocyte enhancer factor 2)-like/Type II subfamily of MADS ( MCM1, Agamous, Deficiens, and SRF (serum response factor) box family of eukaryotic transcriptional regulators. Binds DNA and exists as hetero and homo-dimers. Differs from SRF-like/Type I ...
XM_047417208.1 → XP_047273164.1 myocyte-specific enhancer factor 2C isoform X6

UniProtKB/TrEMBL

A0A0R4J2G5, B2R681
XM_047417213.1 → XP_047273169.1 myocyte-specific enhancer factor 2C isoform X7

UniProtKB/TrEMBL

A0A0D9SFD0, B2R681

Related

ENSP00000486490.1, ENST00000627659.2
XM_047417206.1 → XP_047273162.1 myocyte-specific enhancer factor 2C isoform X6

UniProtKB/TrEMBL

A0A0R4J2G5, B2R681
XM_047417204.1 → XP_047273160.1 myocyte-specific enhancer factor 2C isoform X5

UniProtKB/TrEMBL

B2R681
XM_047417214.1 → XP_047273170.1 myocyte-specific enhancer factor 2C isoform X7

UniProtKB/TrEMBL

A0A0D9SFD0, B2R681
XM_047417207.1 → XP_047273163.1 myocyte-specific enhancer factor 2C isoform X6

UniProtKB/TrEMBL

A0A0R4J2G5, B2R681
XM_047417205.1 → XP_047273161.1 myocyte-specific enhancer factor 2C isoform X5

UniProtKB/TrEMBL

B2R681
XM_047417210.1 → XP_047273166.1 myocyte-specific enhancer factor 2C isoform X6

UniProtKB/TrEMBL

A0A0R4J2G5, B2R681
XM_047417216.1 → XP_047273172.1 myocyte-specific enhancer factor 2C isoform X7

UniProtKB/TrEMBL

A0A0D9SFD0, B2R681
XM_047417211.1 → XP_047273167.1 myocyte-specific enhancer factor 2C isoform X6

UniProtKB/TrEMBL

A0A0R4J2G5, B2R681
XM_047417209.1 → XP_047273165.1 myocyte-specific enhancer factor 2C isoform X6

UniProtKB/TrEMBL

A0A0R4J2G5, B2R681
XM_047417215.1 → XP_047273171.1 myocyte-specific enhancer factor 2C isoform X7

UniProtKB/TrEMBL

A0A0D9SFD0, B2R681

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

89198250..89385215 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054352607.1 → XP_054208582.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_054352626.1 → XP_054208601.1 myocyte-specific enhancer factor 2C isoform X4

UniProtKB/TrEMBL

B2R681
XM_054352617.1 → XP_054208592.1 myocyte-specific enhancer factor 2C isoform X3

UniProtKB/TrEMBL

B2R681
XM_054352599.1 → XP_054208574.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_054352627.1 → XP_054208602.1 myocyte-specific enhancer factor 2C isoform X4

UniProtKB/TrEMBL

B2R681
XM_054352618.1 → XP_054208593.1 myocyte-specific enhancer factor 2C isoform X3

UniProtKB/TrEMBL

B2R681
XM_054352600.1 → XP_054208575.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_054352623.1 → XP_054208598.1 myocyte-specific enhancer factor 2C isoform X3

UniProtKB/TrEMBL

B2R681
XM_054352628.1 → XP_054208603.1 myocyte-specific enhancer factor 2C isoform X4

UniProtKB/TrEMBL

B2R681
XM_054352619.1 → XP_054208594.1 myocyte-specific enhancer factor 2C isoform X3

UniProtKB/TrEMBL

B2R681
XM_054352621.1 → XP_054208596.1 myocyte-specific enhancer factor 2C isoform X3

UniProtKB/TrEMBL

B2R681
XM_054352611.1 → XP_054208586.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_054352625.1 → XP_054208600.1 myocyte-specific enhancer factor 2C isoform X3

UniProtKB/TrEMBL

B2R681
XM_054352603.1 → XP_054208578.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_054352604.1 → XP_054208579.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_054352612.1 → XP_054208587.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_054352641.1 → XP_054208616.1 myocyte-specific enhancer factor 2C isoform X8

UniProtKB/TrEMBL

B2R681
XM_054352615.1 → XP_054208590.1 myocyte-specific enhancer factor 2C isoform X2

UniProtKB/TrEMBL

A0A0D9SGI5, B2R681
XM_054352605.1 → XP_054208580.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_054352608.1 → XP_054208583.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_054352616.1 → XP_054208591.1 myocyte-specific enhancer factor 2C isoform X2

UniProtKB/TrEMBL

A0A0D9SGI5, B2R681
XM_054352601.1 → XP_054208576.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_054352609.1 → XP_054208584.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_054352610.1 → XP_054208585.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_054352613.1 → XP_054208588.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_054352602.1 → XP_054208577.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_054352614.1 → XP_054208589.1 myocyte-specific enhancer factor 2C isoform X2

UniProtKB/TrEMBL

A0A0D9SGI5, B2R681
XM_054352624.1 → XP_054208599.1 myocyte-specific enhancer factor 2C isoform X3

UniProtKB/TrEMBL

B2R681
XM_054352606.1 → XP_054208581.1 myocyte-specific enhancer factor 2C isoform X1

UniProtKB/Swiss-Prot

C9JMZ0, D7F7N5, F8W7V7, Q06413

UniProtKB/TrEMBL

B2R681
XM_054352633.1 → XP_054208608.1 myocyte-specific enhancer factor 2C isoform X6

UniProtKB/TrEMBL

A0A0R4J2G5, B2R681
XM_054352637.1 → XP_054208612.1 myocyte-specific enhancer factor 2C isoform X7

UniProtKB/TrEMBL

A0A0D9SFD0, B2R681
XM_054352631.1 → XP_054208606.1 myocyte-specific enhancer factor 2C isoform X6

UniProtKB/TrEMBL

A0A0R4J2G5, B2R681
XM_054352629.1 → XP_054208604.1 myocyte-specific enhancer factor 2C isoform X5

UniProtKB/TrEMBL

B2R681
XM_054352638.1 → XP_054208613.1 myocyte-specific enhancer factor 2C isoform X7

UniProtKB/TrEMBL

A0A0D9SFD0, B2R681
XM_054352632.1 → XP_054208607.1 myocyte-specific enhancer factor 2C isoform X6

UniProtKB/TrEMBL

A0A0R4J2G5, B2R681
XM_054352630.1 → XP_054208605.1 myocyte-specific enhancer factor 2C isoform X5

UniProtKB/TrEMBL

B2R681
XM_054352635.1 → XP_054208610.1 myocyte-specific enhancer factor 2C isoform X6

UniProtKB/TrEMBL

A0A0R4J2G5, B2R681
XM_054352640.1 → XP_054208615.1 myocyte-specific enhancer factor 2C isoform X7

UniProtKB/TrEMBL

A0A0D9SFD0, B2R681
XM_054352636.1 → XP_054208611.1 myocyte-specific enhancer factor 2C isoform X6

UniProtKB/TrEMBL

A0A0R4J2G5, B2R681
XM_054352634.1 → XP_054208609.1 myocyte-specific enhancer factor 2C isoform X6

UniProtKB/TrEMBL

A0A0R4J2G5, B2R681
XM_054352639.1 → XP_054208614.1 myocyte-specific enhancer factor 2C isoform X7

UniProtKB/TrEMBL

A0A0D9SFD0, B2R681