MYOCD

Chr 17p12

myocardin

Aliases:: MYCD
MANE:: ENST00000425538.6

OMIM: 606127 ↗NCBI: 93649 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MYOCD · Q8IZQ8

v62025-08-01

Predicted Aligned Error matrix for MYOCD — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

54.9/ 100

Low

938 residues

Confidence breakdown

Very high(≥ 90)18%
Confident(70–90)11%
Low(50–70)8%
Very low(< 50)63%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

CAKUT
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric disorders - additional genes
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

megabladder, congenital
0.71
atrial fibrillation
0.47
prune belly syndrome
0.45
uterine corpus leiomyoma
0.45
benign prostatic hyperplasia
0.43
cardiac arrhythmia
0.37
androgenetic alopecia
0.37
prostate carcinoma
0.32
alopecia
0.32
cholelithiasis
0.31

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Myocardin

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 genes. Plays a crucial role in cardiogenesis, urinary bladder development, and differentiation of the smooth muscle cell lineage (myogenesis) (By similarity). Positively regulates the transcription of genes involved in vascular smooth muscle contraction (By similarity)