MYH2

Chr 17

myosin heavy chain 2

Also known as: CMYO6, CMYP6, IBM3, MYH2A, MYHSA2, MYHas8, MyHC-2A, MyHC-IIa

NCBI Gene: 4620ENSG00000125414UniProt: Q9UKX2

Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital myopathy 6 with ophthalmoplegia

Clinical highlights

Gene-disease validity (ClinGen)
myopathy, proximal, and ophthalmoplegia · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
1
Active trials
49
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.69
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.69LOEUF
pLI 0.000
Z-score 4.15
OE 0.55 (0.44–0.69)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.97Z-score
OE missense 0.82 (0.78–0.87)
826 obs / 1001.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.55 (0.44–0.69)
0≤0.351.4
Missense OE?0.82 (0.78–0.87)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 53 / 97.1Missense obs/exp: 826 / 1001.7Syn Z: -0.69

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MYH2 · protein map & ClinVar variants

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

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