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    MYOCD myocardin [ Homo sapiens (human) ]

    Gene ID: 93649, updated on 10-Dec-2024

    Summary

    Official Symbol
    MYOCDprovided by HGNC
    Official Full Name
    myocardinprovided by HGNC
    Primary source
    HGNC:HGNC:16067
    See related
    Ensembl:ENSG00000141052 MIM:606127; AllianceGenome:HGNC:16067
    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
    MGBL; MYCD
    Summary
    This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
    Expression
    Broad expression in esophagus (RPKM 7.3), endometrium (RPKM 5.9) and 15 other tissues See more
    Orthologs
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    Genomic context

    See MYOCD in Genome Data Viewer
    Location:
    17p12
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (12665890..12768949)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (12573362..12676444)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (12569207..12672266)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase 4 Neighboring gene dynein light chain Tctex-type 1 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:12125284-12125872 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:12287658-12287861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11736 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:12358360-12358972 Neighboring gene Sharpr-MPRA regulatory region 9419 Neighboring gene long intergenic non-protein coding RNA 670 Neighboring gene uncharacterized LOC105371540 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:12533784-12534983 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:12540895-12541394 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:12591458-12591958 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:12591959-12592459 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46971 Neighboring gene MYOCD antisense RNA 1 Neighboring gene ARHGAP44 and MYOCD antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11737 Neighboring gene Rho GTPase activating protein 44 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11739 Neighboring gene microRNA 1269b Neighboring gene Sharpr-MPRA regulatory region 8598 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:12920660-12921160 Neighboring gene elaC ribonuclease Z 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (14 hits/1265 screens)

    Associated conditions

    Description Tests
    Megabladder, congenital
    MedGen: C5231472 OMIM: 618719 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of myocardin (MYOCD) in primary human brain microvascular endothelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor binding PubMed 
    enables R-SMAD binding  
    enables RNA polymerase II-specific DNA-binding transcription factor binding  
    enables histone acetyltransferase binding  
    enables histone deacetylase binding  
    enables protein binding PubMed 
    enables transcription coactivator activity  
    enables transcription coactivator activity PubMed 
    Items 1 - 25 of 45
    Process Evidence Code Pubs
    involved_in cardiac muscle cell apoptotic process  
    involved_in cardiac muscle cell differentiation  
    involved_in cardiac muscle cell differentiation  
    involved_in cardiac muscle cell myoblast differentiation PubMed 
    involved_in cardiac vascular smooth muscle cell differentiation  
    involved_in cardiac ventricle development  
    involved_in cardiocyte differentiation PubMed 
    involved_in cellular component maintenance  
    involved_in digestive tract development  
    involved_in ductus arteriosus closure  
    involved_in lung alveolus development  
    involved_in negative regulation of amyloid-beta clearance PubMed 
    involved_in negative regulation of cardiac muscle cell apoptotic process  
    involved_in negative regulation of cell adhesion molecule production  
    involved_in negative regulation of cell population proliferation PubMed 
    involved_in negative regulation of cyclin-dependent protein serine/threonine kinase activity PubMed 
    involved_in negative regulation of myotube differentiation  
    involved_in negative regulation of platelet-derived growth factor receptor-beta signaling pathway  
    involved_in negative regulation of skeletal muscle cell differentiation PubMed 
    involved_in negative regulation of transcription by RNA polymerase II  
    involved_in negative regulation of vascular associated smooth muscle cell migration  
    involved_in negative regulation of vascular associated smooth muscle cell proliferation  
    involved_in positive regulation of DNA-binding transcription factor activity PubMed 
    involved_in positive regulation of DNA-templated transcription PubMed 
    involved_in positive regulation of cardiac muscle cell differentiation PubMed 
    involved_in positive regulation of cell population proliferation  
    involved_in positive regulation of miRNA transcription  
    involved_in positive regulation of smooth muscle cell differentiation PubMed 
    involved_in positive regulation of smooth muscle contraction PubMed 
    involved_in positive regulation of transcription by RNA polymerase II  
    involved_in positive regulation of transcription by RNA polymerase II PubMed 
    involved_in positive regulation of transforming growth factor beta receptor signaling pathway  
    involved_in regulation of cell growth by extracellular stimulus  
    involved_in regulation of myoblast differentiation  
    involved_in regulation of phenotypic switching  
    involved_in regulation of smooth muscle cell differentiation PubMed 
    involved_in response to hypoxia PubMed 
    involved_in smooth muscle cell differentiation  
    involved_in smooth muscle cell differentiation PubMed 
    involved_in smooth muscle cell differentiation PubMed 
    involved_in transcription initiation-coupled chromatin remodeling  
    involved_in urinary bladder development PubMed 
    involved_in uterus development  
    involved_in vasculogenesis  
    involved_in ventricular cardiac muscle cell differentiation  
    Items 1 - 25 of 45
    Component Evidence Code Pubs
    located_in chromatin  
    is_active_in nucleus  
    located_in nucleus PubMed 

    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.

    Genomic

    1. NG_012972.1 RefSeqGene

      Range
      5001..108060
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001146312.3 → NP_001139784.1  myocardin isoform 1

      See identical proteins and their annotated locations for NP_001139784.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC005358, AK292885
      Consensus CDS
      CCDS54091.1
      UniProtKB/Swiss-Prot
      Q8IZQ8
      Related
      ENSP00000401678.1, ENST00000425538.6
      Conserved Domains (2) summary
      smart00707
      Location:106 → 131
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02037
      Location:371 → 404
      SAP; SAP domain
    2. NM_001378306.1 → NP_001365235.1  myocardin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC005358
      Conserved Domains (2) summary
      smart00513
      Location:292 → 323
      SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
      smart00707
      Location:27 → 52
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    3. NM_153604.4 → NP_705832.1  myocardin isoform 2

      See identical proteins and their annotated locations for NP_705832.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in a shorter isoform (2) that lacks a 48 aa segment, compared to isoform 1.
      Source sequence(s)
      AC005358, AF532596, BQ000229, DA650534
      Consensus CDS
      CCDS11163.1
      UniProtKB/Swiss-Prot
      Q5UBU5, Q8IZQ8, Q8N7Q1
      Related
      ENSP00000341835.4, ENST00000343344.8
      Conserved Domains (2) summary
      smart00707
      Location:106 → 131
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02037
      Location:371 → 404
      SAP; SAP domain

    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

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      12665890..12768949
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005256863.1 → XP_005256920.1  myocardin isoform X2

      Conserved Domains (2) summary
      smart00707
      Location:106 → 131
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02037
      Location:371 → 404
      SAP; SAP domain
    2. XM_017025342.1 → XP_016880831.1  myocardin isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      12573362..12676444
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317821.1 → XP_054173796.1  myocardin isoform X2

    2. XM_054317820.1 → XP_054173795.1  myocardin isoform X1

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