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    Mef2a myocyte enhancer factor 2A [ Mus musculus (house mouse) ]

    Gene ID: 17258, updated on 9-Dec-2024

    Summary

    Official Symbol
    Mef2aprovided by MGI
    Official Full Name
    myocyte enhancer factor 2Aprovided by MGI
    Primary source
    MGI:MGI:99532
    See related
    Ensembl:ENSMUSG00000030557 AllianceGenome:MGI:99532
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    A430079H05Rik
    Summary
    Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein kinase binding activity. Involved in several processes, including mitochondrion organization; positive regulation of macromolecule biosynthetic process; and ventricular cardiac myofibril assembly. Acts upstream of or within positive regulation of D-glucose import and positive regulation of DNA-templated transcription. Located in chromatin and nucleus. Is expressed in several structures, including brain; embryo mesenchyme; genitourinary system; heart; and sensory organ. Human ortholog(s) of this gene implicated in dilated cardiomyopathy. Orthologous to human MEF2A (myocyte enhancer factor 2A). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in heart adult (RPKM 19.7), frontal lobe adult (RPKM 17.9) and 28 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Mef2a in Genome Data Viewer
    Location:
    7 C; 7 36.72 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (66880911..67026435, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (67231163..67376456, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1700112J16 gene Neighboring gene STARR-positive B cell enhancer ABC_E4933 Neighboring gene LysM, putative peptidoglycan-binding, domain containing 4 Neighboring gene STARR-seq mESC enhancer starr_19095 Neighboring gene STARR-seq mESC enhancer starr_19096 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:74557695-74557804 Neighboring gene STARR-positive B cell enhancer ABC_E3725 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:74565953-74566106 Neighboring gene STARR-positive B cell enhancer ABC_E3726 Neighboring gene predicted gene, 51462 Neighboring gene predicted gene, 33926

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    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 IC
    Inferred by Curator
    more info
     
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables RNA polymerase II-specific DNA-binding transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II-specific DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables SMAD binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables SMAD binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables histone acetyltransferase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables histone acetyltransferase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables histone deacetylase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables histone deacetylase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables histone deacetylase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein heterodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in ERK5 cascade ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in ERK5 cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in MAPK cascade ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in MAPK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to calcium ion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to calcium ion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in dendrite morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial genome maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrion distribution IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within positive regulation of D-glucose import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cardiac muscle hypertrophy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cardiac muscle hypertrophy ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of gene expression IDA
    Inferred from Direct Assay
    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 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ventricular cardiac myofibril assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IC
    Inferred by Curator
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    part_of transcription regulator complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of transcription regulator complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    myocyte-specific enhancer factor 2A

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001033713.2NP_001028885.1  myocyte-specific enhancer factor 2A isoform a

      See identical proteins and their annotated locations for NP_001028885.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the canonical isoform (a). Variants 1 and 7 both encode the same isoform (a).
      Source sequence(s)
      AC120123, AC158751, AI849762, AK052385, AK132678, AK136368, BC061128
      Consensus CDS
      CCDS39981.1
      UniProtKB/Swiss-Prot
      Q3V155, Q4VA09, Q60929, Q6P8Q3
      Related
      ENSMUSP00000117496.2, ENSMUST00000156690.8
      Conserved Domains (2) summary
      COG5068
      Location:1235
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      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 ...
    2. NM_001291191.2NP_001278120.1  myocyte-specific enhancer factor 2A isoform b

      See identical proteins and their annotated locations for NP_001278120.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons and contains another alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AC120123, AC158751, AI849762
      Consensus CDS
      CCDS71979.1
      UniProtKB/Swiss-Prot
      Q60929
      Related
      ENSMUSP00000032776.9, ENSMUST00000032776.15
      Conserved Domains (3) summary
      cd00265
      Location:278
      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 ...
      pfam11597
      Location:129238
      Med13_N; Mediator complex subunit 13 N-terminal
      pfam12347
      Location:98152
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    3. NM_001291192.1NP_001278121.1  myocyte-specific enhancer factor 2A isoform b

      See identical proteins and their annotated locations for NP_001278121.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks two alternate in-frame exons, and contains another alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AC158751, AI849762, AK132678, AK136368, AK153751
      Consensus CDS
      CCDS71979.1
      UniProtKB/Swiss-Prot
      Q60929
      Related
      ENSMUSP00000075664.6, ENSMUST00000076325.12
      Conserved Domains (3) summary
      cd00265
      Location:278
      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 ...
      pfam11597
      Location:129238
      Med13_N; Mediator complex subunit 13 N-terminal
      pfam12347
      Location:98152
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    4. NM_001291195.1NP_001278124.1  myocyte-specific enhancer factor 2A isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC158751, AI849762, AK052385, AK132678, AK136368
      Consensus CDS
      CCDS71980.1
      UniProtKB/Swiss-Prot
      Q60929
      Related
      ENSMUSP00000103100.2, ENSMUST00000107476.8
      Conserved Domains (2) summary
      COG5068
      Location:1235
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      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 ...
    5. NM_001291196.1NP_001278125.1  myocyte-specific enhancer factor 2A isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate exon, lacks an alternate in-frame exon, and initiates translation at an alternate start codon compared to variant 1. The resulting isoform (d) is shorter at the N-terminus and lacks an internal segment compared to variant 1.
      Source sequence(s)
      AC158751, AI849762, AK052385, AK132678, AK136368
      UniProtKB/Swiss-Prot
      Q60929
    6. NM_001357324.1NP_001344253.1  myocyte-specific enhancer factor 2A isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks an alternate in-frame exon and contains another alternate in-frame exon compared to variant 1. The resulting isoform (e) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC120123, AC158751, AI849762
      Conserved Domains (2) summary
      cd00265
      Location:278
      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:97151
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    7. NM_001357325.1NP_001344254.1  myocyte-specific enhancer factor 2A isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 1, and encodes isoform a. Variants 1 and 7 both encode the same isoform (a).
      Source sequence(s)
      AC120123, AC158751, AI849762
      Consensus CDS
      CCDS39981.1
      UniProtKB/Swiss-Prot
      Q3V155, Q4VA09, Q60929, Q6P8Q3
      Conserved Domains (2) summary
      COG5068
      Location:1235
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      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_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      66880911..67026435 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036152740.1XP_036008633.1  myocyte-specific enhancer factor 2A isoform X5

    2. XM_036152735.1XP_036008628.1  myocyte-specific enhancer factor 2A isoform X2

      UniProtKB/Swiss-Prot
      Q3V155, Q4VA09, Q60929, Q6P8Q3
      Conserved Domains (2) summary
      COG5068
      Location:1235
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      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 ...
    3. XM_030242191.2XP_030098051.1  myocyte-specific enhancer factor 2A isoform X3

      Conserved Domains (2) summary
      COG5068
      Location:1235
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      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 ...
    4. XM_036152738.1XP_036008631.1  myocyte-specific enhancer factor 2A isoform X3

      Conserved Domains (2) summary
      COG5068
      Location:1235
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      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 ...
    5. XM_036152736.1XP_036008629.1  myocyte-specific enhancer factor 2A isoform X2

      UniProtKB/Swiss-Prot
      Q3V155, Q4VA09, Q60929, Q6P8Q3
      Related
      ENSMUSP00000138566.2, ENSMUST00000135493.8
      Conserved Domains (2) summary
      COG5068
      Location:1235
      ARG80; Regulator of arginine metabolism and related MADS box-containing transcription factors [Transcription]
      cd00265
      Location:278
      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 ...
    6. XM_036152739.1XP_036008632.1  myocyte-specific enhancer factor 2A isoform X4

    7. XM_036152734.1XP_036008627.1  myocyte-specific enhancer factor 2A isoform X1

      Conserved Domains (2) summary
      cd00265
      Location:278
      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:97151
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    8. XM_006540684.5XP_006540747.1  myocyte-specific enhancer factor 2A isoform X1

      See identical proteins and their annotated locations for XP_006540747.1

      Conserved Domains (2) summary
      cd00265
      Location:278
      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:97151
      HJURP_C; Holliday junction regulator protein family C-terminal repeat
    9. XM_036152737.1XP_036008630.1  myocyte-specific enhancer factor 2A isoform X1

      Conserved Domains (2) summary
      cd00265
      Location:278
      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:97151
      HJURP_C; Holliday junction regulator protein family C-terminal repeat