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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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MYOCD
myocardin
Chromosome 17 Β· 17p12
NCBI Gene: 93649Ensembl: ENSG00000141052.19HGNC: HGNC:16067UniProt: Q8IZQ8
100PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of amyloid-beta clearancetranscription coactivator activityprotein bindingDNA-binding transcription factor bindingmegabladder, congenitalatrial fibrillationuterine fibroidprune belly syndrome
✦AI Summary

MYOCD (myocardin) is a muscle-restricted transcriptional coactivator that functions as a critical regulator of cardiac and smooth muscle cell differentiation. MYOCD acts as a cofactor of serum response factor (SRF), binding to CArG box DNA sequences to modulate transcription of muscle-specific genes 1. In cardiogenesis, MYOCD works synergistically with TBX5 and GATA4 to activate cardiac gene programs, with the three-factor combination most effectively inducing cardiac marker expression while suppressing non-cardiac genes 1. MYOCD promotes vascular smooth muscle cell (VSMC) contractile differentiation and inhibits pathological phenotypic switching; RBPMS enhances MYOCD alternative splicing to promote the contractile VSMC phenotype and reduce atherosclerotic plaque development 2. In airway smooth muscle, the RhoA/ROCK-MYOCD pathway regulates cell proliferation and differentiation during abnormal airway remodeling 3. MYOCD enables direct reprogramming of human urine cells and fibroblasts into cardiomyocyte-like cells through chr17 remodeling 4. Disease relevance includes congenital megabladder 5 and involvement in pathological processes: MYOCD promotes TGF-Ξ²-induced epithelial-mesenchymal transition and metastasis in lung cancer through positive feedback with SMAD3/SMAD4 6, and MYOCD amplification occurs in uterine leiomyosarcomas 7. PRMT5-mediated disruption of MYOCD-SRF interaction accelerates neointimal hyperplasia 8.

Sources cited
1
MYOCD is required for cardiomyocyte-like cell induction from human urine cells and fibroblasts through chromatin remodeling
PMID: 35246800
2
RBPMS enhances MYOCD alternative splicing to promote contractile VSMC phenotype and reduce atherosclerotic plaque development
PMID: 39999164
3
RhoA/ROCK-MYOCD pathway regulates airway smooth muscle cell proliferation and differentiation during pathological remodeling
PMID: 33909498
4
MYOCD forms positive feedback loop with SMAD3/SMAD4 to drive TGF-Ξ²-induced EMT and metastasis in lung cancer
PMID: 32029901
5
PRMT5 disrupts MYOCD-SRF interaction to promote SMC phenotypic switching and neointimal hyperplasia
PMID: 37201513
6
MYOCD amplification detected in uterine leiomyosarcomas
PMID: 33876771
7
MYOCD mutations identified in neurogenetic disorder exome sequencing study
PMID: 25558065
8
MYOCD works synergistically with TBX5 and GATA4 to activate cardiac genes in fibroblasts
PMID: 23144723
Disease Associationsβ“˜21
megabladder, congenitalOpen Targets
0.71Strong
atrial fibrillationOpen Targets
0.50Moderate
uterine fibroidOpen Targets
0.47Moderate
prune belly syndromeOpen Targets
0.45Moderate
benign prostatic hyperplasiaOpen Targets
0.45Moderate
cardiac arrhythmiaOpen Targets
0.40Moderate
androgenetic alopeciaOpen Targets
0.34Weak
prostate carcinomaOpen Targets
0.33Weak
cholelithiasisOpen Targets
0.31Weak
neurodegenerative diseaseOpen Targets
0.30Weak
pelvic organ prolapseOpen Targets
0.30Weak
alopeciaOpen Targets
0.30Weak
placenta praeviaOpen Targets
0.28Weak
asthmaOpen Targets
0.28Weak
skin lipomaOpen Targets
0.27Weak
hemorrhoidOpen Targets
0.27Weak
Intellectual disabilityOpen Targets
0.26Weak
SeizureOpen Targets
0.26Weak
urinary system diseaseOpen Targets
0.25Weak
diverticular diseaseOpen Targets
0.24Weak
Megabladder, congenitalUniProt
Pathogenic Variants7
NM_001146312.3(MYOCD):c.232del (p.Val78fs)Likely pathogenic
Megabladder, congenital
β˜…β˜†β˜†β˜†2024β†’ Residue 78
GRCh38/hg38 17p12(chr17:12453983-12791857)Likely pathogenic
Megabladder, congenital
β˜…β˜†β˜†β˜†2022
NM_001146312.3(MYOCD):c.971+3_971+6delLikely pathogenic
Megabladder, congenital
β˜…β˜†β˜†β˜†2021
NM_001146312.3(MYOCD):c.55+2T>CLikely pathogenic
Megabladder, congenital
β˜…β˜†β˜†β˜†
NM_001146312.3(MYOCD):c.343C>T (p.Arg115Ter)Pathogenic
Prune belly syndrome|Megabladder, congenital
β˜†β˜†β˜†β˜†2019β†’ Residue 115
NM_001146312.3(MYOCD):c.1053_1054del (p.Asn351fs)Pathogenic
Prune belly syndrome|Megabladder, congenital
β˜†β˜†β˜†β˜†2019β†’ Residue 351
NC_000017.11:g.12269251_12706280delPathogenic
Prune belly syndrome|Megabladder, congenital
β˜†β˜†β˜†β˜†2019
View on ClinVar β†—
Related Genes
NKX2-5Protein interaction100%HAND2Protein interaction100%EP300Protein interaction99%SMAD3Protein interaction93%ACTC1Protein interaction84%CNN1Protein interaction84%
Tissue Expression6 tissues
Heart
100%
Ovary
20%
Lung
9%
Brain
1%
Liver
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MYOCDNKX2-5HAND2EP300SMAD3ACTC1CNN1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8IZQ8
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.40Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.28 [0.20–0.40]
RankingsWhere MYOCD stands among ~20K protein-coding genes
  • #4,790of 20,598
    Most Researched100 Β· top quartile
  • #3,186of 5,498
    Most Pathogenic Variants7
  • #1,950of 17,882
    Most Constrained (LOEUF)0.40 Β· top quartile
Genes detectedMYOCD
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
PMID: 25558065
Cell Rep Β· 2015
1.00
2
MYOCD is Required for Cardiomyocyte-like Cells Induction from Human Urine Cells and Fibroblasts Through Remodeling Chromatin.
PMID: 35246800
Stem Cell Rev Rep Β· 2022
0.90
3
Integrated mutational landscape analysis of uterine leiomyosarcomas.
PMID: 33876771
Proc Natl Acad Sci U S A Β· 2021
0.80
4
The RNA-binding protein RBPMS inhibits smooth muscle cell-driven vascular remodeling in atherosclerosis and vascular injury.
PMID: 39999164
Proc Natl Acad Sci U S A Β· 2025
0.70
5
Rho/ROCK-MYOCD in regulating airway smooth muscle growth and remodeling.
PMID: 33909498
Am J Physiol Lung Cell Mol Physiol Β· 2021
0.60