Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
93649
Gene name Gene Name - the full gene name approved by the HGNC.
Myocardin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MYOCD
Synonyms (NCBI Gene) Gene synonyms aliases
MGBL, MYCD
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MGBL
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p12
Summary Summary of gene provided in NCBI Entrez 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-spec
SNPs SNP information provided by dbSNP.
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.
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 factor Regulation Reference
FOXO3 Repression 18772130
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 IEP 19098903
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606127 16067 ENSG00000141052
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
30061737, 29892015
Cardiomyopathy Cardiomyopathies rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
31513549
Congenital heart disease Congenital heart disease rs386833852, rs864321649, rs864321648, rs864321645, rs864321650, rs864321698, rs864321703, rs864321700, rs864321701, rs864321702, rs864321705, rs864321704, rs1554498312 31513549
Unknown
Disease term Disease name Evidence References Source
Paroxysmal atrial fibrillation Paroxysmal atrial fibrillation 29892015, 30061737 ClinVar
Atrial Fibrillation Atrial Fibrillation GWAS
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Uterine Fibroids Uterine Fibroids GWAS
Associations from Text Mining
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