MYF5

Chr 12q21.31

myogenic factor 5

Aliases:: bHLHc2
MANE:: ENST00000228644.4

OMIM: 159990 ↗NCBI: 4617 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MYF5 · P13349

v62025-08-01

Predicted Aligned Error matrix for MYF5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.9/ 100

Low

255 residues

Confidence breakdown

Very high(≥ 90)22%
Confident(70–90)16%
Low(50–70)23%
Very low(< 50)39%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital fibrosis of the extraocular muscles
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

ophthalmoplegia, external, with rib and vertebral anomalies
0.67
External ophthalmoplegia
0.42
scoliosis
0.42
Abnormal rib morphology
0.42
aortic atherosclerosis
0.14
arthropathy
0.12
ovarian dysfunction
0.11
type 2 diabetes mellitus
0.11
neoplasm
0.10
amyotrophic lateral sclerosis
0.09

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

Protein function (UniProt)

Myogenic factor 5

Transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation (PubMed:29887215). Together with MYOG and MYOD1, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein