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Aliases for MYOCD Gene

Aliases for MYOCD Gene

External Ids for MYOCD Gene

Previous GeneCards Identifiers for MYOCD Gene

  • GC17P012771
  • GC17P012510

Summaries for MYOCD Gene

Entrez Gene Summary for MYOCD Gene

  • 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]

GeneCards Summary for MYOCD Gene

MYOCD (Myocardin) is a Protein Coding gene. Diseases associated with MYOCD include Conotruncal Heart Malformations. Among its related pathways are HOP Signaling and SRF and miRs in Smooth Muscle Differentiation and Proliferation. GO annotations related to this gene include nucleic acid binding and transcription coactivator activity. An important paralog of this gene is MKL2.

UniProtKB/Swiss-Prot for MYOCD Gene

  • Smooth muscle cells (SM) and cardiac muscle cells-specific transcriptional factor which uses the canonical single or multiple CArG boxes DNA sequence. Acts as a cofactor of serum response factor (SRF) with the potential to modulate SRF-target genes. Plays a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage (myogenesis) (By similarity).

Gene Wiki entry for MYOCD Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYOCD Gene

Genomics for MYOCD Gene

Regulatory Elements for MYOCD Gene

Enhancers for MYOCD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G012636 0.9 Ensembl ENCODE 11.9 -28.6 -28585 1.5 JUND HDAC2 ZNF512 BHLHE40 INSM2 FOS KDM1A PRDM1 MYOCD GC17M012650 GC17M012612
GH17G012643 0.5 ENCODE 13 -21.5 -21504 1.1 CTCF TEAD4 CUX1 MYOCD GC17M012650 GC17M012612
GH17G012693 0.5 dbSUPER 11.3 +28.8 28800 2.1 MAFF ZNF316 ATF2 MAFK MYOCD LOC101928418 GC17M012664
GH17G012721 0.5 dbSUPER 10.9 +56.5 56482 2.5 CTCF ZBTB11 CHD4 MYOCD ARHGAP44 GC17P012717 GC17P012738
GH17G012712 0.2 dbSUPER 10.9 +46.9 46855 1.1 MYOCD GC17P012717 LOC101928418
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MYOCD on UCSC Golden Path with GeneCards custom track

Genomic Location for MYOCD Gene

Chromosome:
17
Start:
12,665,890 bp from pter
End:
12,768,949 bp from pter
Size:
103,060 bases
Orientation:
Plus strand

Genomic View for MYOCD Gene

Genes around MYOCD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYOCD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYOCD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYOCD Gene

Proteins for MYOCD Gene

  • Protein details for MYOCD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZQ8-MYCD_HUMAN
    Recommended name:
    Myocardin
    Protein Accession:
    Q8IZQ8
    Secondary Accessions:
    • Q5UBU5
    • Q8N7Q1

    Protein attributes for MYOCD Gene

    Size:
    938 amino acids
    Molecular mass:
    101997 Da
    Quaternary structure:
    • Homodimer. Interacts with SRF, its association does not depend on specific DNA sequences for ternary complex formation (By similarity). Interacts with MLLT7/FOXO4. Interacts (via C-terminal) with EP300 (via the CREB-binding domain). Interacts with HDAC4 and HDAC5 (By similarity). Interacts with MEF2C (By similarity).

    Alternative splice isoforms for MYOCD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYOCD Gene

Post-translational modifications for MYOCD Gene

  • Phosphorylation regulates negatively the intrinsic myocardin transcriptional activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYOCD Gene

No data available for DME Specific Peptides for MYOCD Gene

Domains & Families for MYOCD Gene

Gene Families for MYOCD Gene

Protein Domains for MYOCD Gene

Suggested Antigen Peptide Sequences for MYOCD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IZQ8

UniProtKB/Swiss-Prot:

MYCD_HUMAN :
  • The C-terminal region contains a general transcription activation domain. The N-terminal region, comprising a basic and a Gln-rich domain, confers transcriptional potency and specificity by mediating association with the MADS box of SRF. The basic domain may be required for nuclear localization. The SAP domain is important for transactivation and ternary complex formation (By similarity).
Domain:
  • The C-terminal region contains a general transcription activation domain. The N-terminal region, comprising a basic and a Gln-rich domain, confers transcriptional potency and specificity by mediating association with the MADS box of SRF. The basic domain may be required for nuclear localization. The SAP domain is important for transactivation and ternary complex formation (By similarity).
genes like me logo Genes that share domains with MYOCD: view

Function for MYOCD Gene

Molecular function for MYOCD Gene

UniProtKB/Swiss-Prot Function:
Smooth muscle cells (SM) and cardiac muscle cells-specific transcriptional factor which uses the canonical single or multiple CArG boxes DNA sequence. Acts as a cofactor of serum response factor (SRF) with the potential to modulate SRF-target genes. Plays a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage (myogenesis) (By similarity).
UniProtKB/Swiss-Prot Induction:
Up-regulated during heart failure.

Gene Ontology (GO) - Molecular Function for MYOCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000987 core promoter proximal region sequence-specific DNA binding IEA --
GO:0001046 core promoter sequence-specific DNA binding IDA 19797053
GO:0001076 transcription factor activity, RNA polymerase II transcription factor binding ISS --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 22157009
GO:0001105 RNA polymerase II transcription coactivator activity IBA --
genes like me logo Genes that share ontologies with MYOCD: view
genes like me logo Genes that share phenotypes with MYOCD: view

Animal Models for MYOCD Gene

MGI Knock Outs for MYOCD:

Animal Model Products

CRISPR Products

miRNA for MYOCD Gene

miRTarBase miRNAs that target MYOCD

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MYOCD Gene

Localization for MYOCD Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYOCD Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYOCD gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
mitochondrion 2
cytosol 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MYOCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IEA --
GO:0005634 nucleus IDA,IEA 14970199
genes like me logo Genes that share ontologies with MYOCD: view

Pathways & Interactions for MYOCD Gene

genes like me logo Genes that share pathways with MYOCD: view

Pathways by source for MYOCD Gene

1 Qiagen pathway for MYOCD Gene

SIGNOR curated interactions for MYOCD Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MYOCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001560 regulation of cell growth by extracellular stimulus IEA --
GO:0001570 vasculogenesis IEA --
GO:0001666 response to hypoxia IEP 19098903
GO:0003231 cardiac ventricle development IEA --
genes like me logo Genes that share ontologies with MYOCD: view

Drugs & Compounds for MYOCD Gene

(2) Drugs for MYOCD Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for MYOCD Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MYOCD: view

Transcripts for MYOCD Gene

Unigene Clusters for MYOCD Gene

Myocardin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYOCD Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: -
SP2:
SP3: -
SP4:

Relevant External Links for MYOCD Gene

GeneLoc Exon Structure for
MYOCD
ECgene alternative splicing isoforms for
MYOCD

Expression for MYOCD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYOCD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYOCD Gene

This gene is overexpressed in Artery - Aorta (x5.4), Colon - Sigmoid (x5.1), Artery - Tibial (x4.7), Artery - Coronary (x4.6), and Esophagus - Muscularis (x4.4).

Protein differential expression in normal tissues from HIPED for MYOCD Gene

This gene is overexpressed in Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MYOCD Gene



Protein tissue co-expression partners for MYOCD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MYOCD Gene:

MYOCD

SOURCE GeneReport for Unigene cluster for MYOCD Gene:

Hs.567641

mRNA Expression by UniProt/SwissProt for MYOCD Gene:

Q8IZQ8-MYCD_HUMAN
Tissue specificity: Expressed in heart, aorta, and in smooth muscle cell-containing tissues: stomach, bladder, small intestine, colon, lung, placenta and uterus. Very faint expression in prostate and skeletal muscle.

Evidence on tissue expression from TISSUES for MYOCD Gene

  • Heart(4.6)
  • Muscle(3.3)
genes like me logo Genes that share expression patterns with MYOCD: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MYOCD Gene

Orthologs for MYOCD Gene

This gene was present in the common ancestor of animals.

Orthologs for MYOCD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYOCD 34 35
  • 99.46 (n)
dog
(Canis familiaris)
Mammalia MYOCD 34
  • 85.45 (n)
-- 35
  • 85 (a)
OneToMany
cow
(Bos Taurus)
Mammalia LOC539517 34
  • 84.34 (n)
-- 35
  • 83 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Myocd 16 35 34
  • 82.59 (n)
rat
(Rattus norvegicus)
Mammalia Myocd 34
  • 82.13 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 68 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 59 (a)
OneToMany
chicken
(Gallus gallus)
Aves MYOCD 34 35
  • 71.79 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 64 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia myocd 34
  • 64.73 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100331725 34
  • 54.84 (n)
MYOCD 35
  • 45 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Mrtf 35
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5092 35
  • 37 (a)
OneToMany
Species where no ortholog for MYOCD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MYOCD Gene

ENSEMBL:
Gene Tree for MYOCD (if available)
TreeFam:
Gene Tree for MYOCD (if available)

Paralogs for MYOCD Gene

Paralogs for MYOCD Gene

(3) SIMAP similar genes for MYOCD Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MYOCD: view

Variants for MYOCD Gene

Sequence variations from dbSNP and Humsavar for MYOCD Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs137939966 Likely pathogenic 12,752,540(+) GGGAT(A/G)TAACG reference, missense
rs193920964 Uncertain significance 12,763,360(+) CTGGG(-/A)AGGCT nc-transcript-variant, reference, frameshift-variant
rs368720240 Uncertain significance 12,736,288(+) CCAGA(C/T)GCTAA reference, synonymous-codon
rs1000008196 -- 12,738,028(+) TCATT(C/T)GTACA intron-variant
rs1000026502 -- 12,765,611(+) AGCGG(C/T)GTTAC intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for MYOCD Gene

Variant ID Type Subtype PubMed ID
esv2715663 CNV deletion 23290073
esv34095 CNV loss 18971310
esv3582529 CNV loss 25503493
esv3639977 CNV loss 21293372
nsv524458 CNV loss 19592680

Variation tolerance for MYOCD Gene

Residual Variation Intolerance Score: 76.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.76; 66.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYOCD Gene

Human Gene Mutation Database (HGMD)
MYOCD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYOCD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYOCD Gene

Disorders for MYOCD Gene

MalaCards: The human disease database

(1) MalaCards diseases for MYOCD Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
conotruncal heart malformations
  • double-outlet right ventricle
- elite association - COSMIC cancer census association via MalaCards
Search MYOCD in MalaCards View complete list of genes associated with diseases

Relevant External Links for MYOCD

Genetic Association Database (GAD)
MYOCD
Human Genome Epidemiology (HuGE) Navigator
MYOCD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYOCD
genes like me logo Genes that share disorders with MYOCD: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYOCD Gene

Publications for MYOCD Gene

  1. Potentiation of serum response factor activity by a family of myocardin-related transcription factors. (PMID: 12397177) Wang D.-Z. … Olson E.N. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 4 22 64
  2. Myocardin gene regulatory variants as surrogate markers of cardiac hypertrophy - study in a genetically homogeneous population. (PMID: 18028454) Kontaraki J.E. … Vardas P.E. (Clin. Genet. 2008) 3 22 46 64
  3. Activation of cardiac and smooth muscle-specific genes in primary human cells after forced expression of human myocardin. (PMID: 15907818) van Tuyn J. … Atsma D.E. (Cardiovasc. Res. 2005) 3 4 22 64
  4. Phenotypic modulation of smooth muscle cells through interaction of Foxo4 and myocardin. (PMID: 16054032) Liu Z.-P. … Olson E.N. (Dev. Cell 2005) 3 4 22 64
  5. Myocardin is a critical serum response factor cofactor in the transcriptional program regulating smooth muscle cell differentiation. (PMID: 12640126) Du K.L. … Parmacek M.S. (Mol. Cell. Biol. 2003) 3 4 22 64

Products for MYOCD Gene

Sources for MYOCD Gene

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