MYOCD

Chr 17AD

myocardin

Also known as: MGBL, MYCD

NCBI Gene: 93649ENSG00000141052UniProt: Q8IZQ8OMIM: 606127

This gene encodes a transcriptional co-activator of serum response factor that regulates cardiac and smooth muscle-specific gene expression, playing a crucial role in cardiogenesis and smooth muscle cell differentiation. Mutations cause congenital megabladder, a condition affecting urinary bladder development and smooth muscle function. Inheritance is autosomal dominant.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismADLOEUF 0.391 OMIM phenotype
Clinical Summary— MYOCD
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.23) despite low pLI — interpret in context.
📋
ClinVar Variants
16 unique Pathogenic / Likely Pathogenic· 138 VUS of 219 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.39LOEUF
pLI 0.334
Z-score 4.73
OE 0.23 (0.14–0.39)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.34Z-score
OE missense 0.96 (0.89–1.03)
517 obs / 539.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.23 (0.14–0.39)
0≤0.351.4
Missense OE0.96 (0.89–1.03)
0≤0.61.4
Synonymous OE1.11
0≤1.21.6
LoF obs/exp: 10 / 43.8Missense obs/exp: 517 / 539.0Syn Z: -1.28
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
strongMYOCD-related congenital megabladderLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.5477th %ile
GOF
0.3292th %ile
LOF
0.61top 25%

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Literature Evidence

DNTogether, these data suggest that MYOCD ΔExon 11 may participate in modulating SMC phenotype, potentially acting as a dominant-negative repressor of contraction-related genes.PMID:21792927

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

219 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic12
Likely Pathogenic4
VUS138
Likely Benign11
Benign40
Conflicting4
12
Pathogenic
4
Likely Pathogenic
138
VUS
11
Likely Benign
40
Benign
4
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
3
0
9
0
12
Likely Pathogenic
3
0
1
0
4
VUS
3
132
2
1
138
Likely Benign
0
6
1
4
11
Benign
0
8
26
6
40
Conflicting
—4
Total91463911209

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MYOCD · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients