Gene Gene information from NCBI Gene database.
Entrez ID 93649
Gene name Myocardin
Gene symbol MYOCD
Synonyms (NCBI Gene)
MGBLMYCD
Chromosome 17
Chromosome location 17p12
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-spec
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs137939966 A>G Likely-pathogenic Coding sequence variant, missense variant
rs760792013 ->C Pathogenic Coding sequence variant, frameshift variant, intron variant
rs1597782599 C>T Pathogenic Coding sequence variant, stop gained
rs1597802479 CA>- Pathogenic Frameshift variant, coding sequence variant
rs1597809206 A>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
612
miRTarBase ID miRNA Experiments Reference
MIRT023927 hsa-miR-1-3p Western blot 20458751
MIRT721159 hsa-miR-548ac HITS-CLIP 19536157
MIRT721158 hsa-miR-548bb-3p HITS-CLIP 19536157
MIRT721157 hsa-miR-548d-3p HITS-CLIP 19536157
MIRT721156 hsa-miR-548h-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
FOXO3 Repression 18772130
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
73
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin IEA
GO:0001560 Process Regulation of cell growth by extracellular stimulus IEA
GO:0001570 Process Vasculogenesis IEA
GO:0001666 Process Response to hypoxia IMP 19098903
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606127 16067 ENSG00000141052
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IZQ8
Protein name Myocardin
Protein 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 ge
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02755 RPEL 107 130 RPEL repeat Disordered
PF02037 SAP 371 405 SAP domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the heart, aorta and bladder (PubMed:12640126, PubMed:20385216). Expressed in smooth muscle cell-containing tissues: stomach, small intestine, colon, lung, placenta and uterus (PubMed:12640126). Very faint expression in pr
Sequence
MTLLGSEHSLLIRSKFRSVLQLRLQQRRTQEQLANQGIIPPLKRPAEFHEQRKHLDSDKA
KNSLKRKARNRCNSADLVNMHILQASTAERSIPTAQMKLKRARLADDLNEKIALRPGPLE
LVEKNILPVD
SAVKEAIKGNQVSFSKSTDAFAFEEDSSSDGLSPDQTRSEDPQNSAGSPP
DAKASDTPSTGSLGTNQDLASGSENDRNDSASQPSHQSDAGKQGLGPPSTPIAVHAAVKS
KSLGDSKNRHKKPKDPKPKVKKLKYHQYIPPDQKAEKSPPPMDSAYARLLQQQQLFLQLQ
ILSQQQQQQQHRFSYLGMHQAQLKEPNEQMVRNPNSSSTPLSNTPLSPVKNSFSGQTGVS
SFKPGPLPPNLDDLKVSELRQQLRIRGLPVSGTKTALMDRLRPFQDCSGNPVPNFGDITT
VTFPVTPNTLPNYQSSSSTSALSNGFYHFGSTSSSPPISPASSDLSVAGSLPDTFNDASP
SFGLHPSPVHVCTEESLMSSLNGGSVPSELDGLDSEKDKMLVEKQKVINELTWKLQQEQR
QVEELRMQLQKQKRNNCSEKKPLPFLAASIKQEEAVSSCPFASQVPVKRQSSSSECHPPA
CEAAQLQPLGNAHCVESSDQTNVLSSTFLSPQCSPQHSPLGAVKSPQHISLPPSPNNPHF
LPSSSGAQGEGHRVSSPISSQVCTAQMAGLHSSDKVGPKFSIPSPTFSKSSSAISEVTQP
PSYEDAVKQQMTRSQQMDELLDVLIESGEMPADAREDHSCLQKVPKIPRSSRSPTAVLTK
PSASFEQASSGSQIPFDPYATDSDEHLEVLLNSQSPLGKMSDVTLLKIGSEEPHFDGIMD
GFSGKAAEDLFNAHEILPGPLSPMQTQFSPSSVDSNGLQLSFTESPWETMEWLDLTPPNS
TPGFSALTTSSPSIFNIDFLDVTDLNLNSSMDLHLQQW
Sequence length 938
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
21
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Megabladder, congenital Likely pathogenic; Pathogenic rs2150711288, rs1597782599, rs1597802479 RCV001807686
RCV000984630
RCV000984631
Prune belly syndrome Pathogenic rs1597782599, rs1597802479 RCV000850243
RCV000850244
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs760792013, rs1597809206 -
Cervical cancer Benign rs7219813 RCV005922972
Cholangiocarcinoma Benign rs7219813 RCV005922974
Clear cell carcinoma of kidney Benign rs374404083, rs28730823 RCV005929471
RCV005907261
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atherosclerosis Inhibit 26992033
Atherosclerosis Associate 30529831
Breast Neoplasms Associate 27156566
Carcinoma Hepatocellular Associate 26099202
Carcinoma Squamous Cell Associate 36451444
Cardiomyopathy Dilated Stimulate 20388650
Cardiovascular Diseases Associate 24681789
Coronary Artery Disease Stimulate 24681789
Coronary Artery Disease Associate 31815603
Coronary Disease Associate 31815603