• Gene id: 93649

Gene Summary

• Gene Symbol: MYOCD   Gene   UCSC   Ensembl
• Aliases: MGBL, MYCD
• Gene name: myocardin
• Alternate names: myocardin,
• Gene location: 17p12 (12665889: 12768948)     Exons: 15     NC_000017.11
• Gene summary(Entrez): 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-spec
• OMIM: 606127

Protein Summary

• Protein general information: Q8IZQ8  
  • Name: Myocardin
  • Length: 938  
  • Mass: 101997
  • Tissue specificity: Expressed in heart, aorta, and in smooth muscle cell-containing tissues
• Sequence:

  MTLLGSEHSLLIRSKFRSVLQLRLQQRRTQEQLANQGIIPPLKRPAEFHEQRKHLDSDKAKNSLKRKARNRCNSA
  DLVNMHILQASTAERSIPTAQMKLKRARLADDLNEKIALRPGPLELVEKNILPVDSAVKEAIKGNQVSFSKSTDA
  FAFEEDSSSDGLSPDQTRSEDPQNSAGSPPDAKASDTPSTGSLGTNQDLASGSENDRNDSASQPSHQSDAGKQGL
  GPPSTPIAVHAAVKSKSLGDSKNRHKKPKDPKPKVKKLKYHQYIPPDQKAEKSPPPMDSAYARLLQQQQLFLQLQ
  ILSQQQQQQQHRFSYLGMHQAQLKEPNEQMVRNPNSSSTPLSNTPLSPVKNSFSGQTGVSSFKPGPLPPNLDDLK
  VSELRQQLRIRGLPVSGTKTALMDRLRPFQDCSGNPVPNFGDITTVTFPVTPNTLPNYQSSSSTSALSNGFYHFG
  STSSSPPISPASSDLSVAGSLPDTFNDASPSFGLHPSPVHVCTEESLMSSLNGGSVPSELDGLDSEKDKMLVEKQ
  KVINELTWKLQQEQRQVEELRMQLQKQKRNNCSEKKPLPFLAASIKQEEAVSSCPFASQVPVKRQSSSSECHPPA
  CEAAQLQPLGNAHCVESSDQTNVLSSTFLSPQCSPQHSPLGAVKSPQHISLPPSPNNPHFLPSSSGAQGEGHRVS
  SPISSQVCTAQMAGLHSSDKVGPKFSIPSPTFSKSSSAISEVTQPPSYEDAVKQQMTRSQQMDELLDVLIESGEM
  PADAREDHSCLQKVPKIPRSSRSPTAVLTKPSASFEQASSGSQIPFDPYATDSDEHLEVLLNSQSPLGKMSDVTL
  LKIGSEEPHFDGIMDGFSGKAAEDLFNAHEILPGPLSPMQTQFSPSSVDSNGLQLSFTESPWETMEWLDLTPPNS
  TPGFSALTTSSPSIFNIDFLDVTDLNLNSSMDLHLQQW

• Structural information:
  • Protein Domains: (371..40-)
    (/note="SAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00186"-)
  • Interpro: IPR028721  IPR004018  IPR003034  IPR036361  
  • Prosite: PS51073 PS50800
  • STRING: ENSP00000401678
• Other Databases: GeneCards:  MYOCD  Malacards:  MYOCD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003713	transcription coactivator activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0051145	smooth muscle cell differentiation	IBA	biological process
GO:0055007	cardiac muscle cell differentiation	IBA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0035065	regulation of histone acetylation	ISS	biological process
GO:0060157	urinary bladder development	IMP	biological process
GO:2000727	positive regulation of cardiac muscle cell differentiation	IEA	biological process
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1904753	negative regulation of vascular associated smooth muscle cell migration	IEA	biological process
GO:1900239	regulation of phenotypic switching	IEA	biological process
GO:0097070	ductus arteriosus closure	IEA	biological process
GO:0061629	RNA polymerase II-specific DNA-binding transcription factor binding	IEA	molecular function
GO:0060157	urinary bladder development	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0043954	cellular component maintenance	IEA	biological process
GO:0043388	positive regulation of DNA binding	IEA	biological process
GO:0035065	regulation of histone acetylation	IEA	biological process
GO:0035035	histone acetyltransferase binding	IEA	molecular function
GO:0010832	negative regulation of myotube differentiation	IEA	biological process
GO:0010667	negative regulation of cardiac muscle cell apoptotic process	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003231	cardiac ventricle development	IEA	biological process
GO:0001570	vasculogenesis	IEA	biological process
GO:0001560	regulation of cell growth by extracellular stimulus	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:2000587	negative regulation of platelet-derived growth factor receptor-beta signaling pathway	IEA	biological process
GO:1904706	negative regulation of vascular smooth muscle cell proliferation	IEA	biological process
GO:1901228	positive regulation of transcription from RNA polymerase II promoter involved in heart development	IEA	biological process
GO:0070412	R-SMAD binding	IEA	molecular function
GO:0060065	uterus development	IEA	biological process
GO:0055012	ventricular cardiac muscle cell differentiation	IEA	biological process
GO:0055007	cardiac muscle cell differentiation	IEA	biological process
GO:0051145	smooth muscle cell differentiation	IEA	biological process
GO:0048565	digestive tract development	IEA	biological process
GO:0048286	lung alveolus development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045661	regulation of myoblast differentiation	IEA	biological process
GO:0042826	histone deacetylase binding	IEA	molecular function
GO:0042692	muscle cell differentiation	IEA	biological process
GO:0035886	vascular smooth muscle cell differentiation	IEA	biological process
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0000987	cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003257	positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0045736	negative regulation of cyclin-dependent protein serine/threonine kinase activity	IDA	biological process
GO:0045987	positive regulation of smooth muscle contraction	IDA	biological process
GO:0051152	positive regulation of smooth muscle cell differentiation	IDA	biological process
GO:2000727	positive regulation of cardiac muscle cell differentiation	IDA	biological process
GO:2001015	negative regulation of skeletal muscle cell differentiation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IDA	biological process
GO:2000721	positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation	IDA	biological process
GO:0001666	response to hypoxia	IEP	biological process
GO:2000724	positive regulation of cardiac vascular smooth muscle cell differentiation	ISS	biological process
GO:0061629	RNA polymerase II-specific DNA-binding transcription factor binding	ISS	molecular function
GO:0051145	smooth muscle cell differentiation	IMP	biological process
GO:0051150	regulation of smooth muscle cell differentiation	TAS	biological process
GO:0055007	cardiac muscle cell differentiation	ISS	biological process
GO:1900222	negative regulation of amyloid-beta clearance	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0035051	cardiocyte differentiation	NAS	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq