MYH2 Chromosome 17
Myosin heavy chain 2
Upload your DNA to see your personal genotypes for variants in MYH2.
What This Gene Does
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]
Gene Info
Gene Group
Myosin heavy chains, class II
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000125414
Associated Conditions (7)
Myopathy
proximal
and ophthalmoplegia
MYH2-related disorder
Inborn genetic diseases
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Key Variants
RS1042270
Conflicting classifications of pathogenicity
Myopathy, proximal, and ophthalmoplegia
Health Risk
RS1131691628
Conflicting classifications of pathogenicity
Myopathy, proximal, and ophthalmoplegia
Health Risk
RS116419997
Conflicting classifications of pathogenicity
Myopathy, proximal, and ophthalmoplegia
Health Risk
RS11658164
Conflicting classifications of pathogenicity
Myopathy, proximal, and ophthalmoplegia
Health Risk
RS117390537
Conflicting classifications of pathogenicity
Myopathy, proximal, and ophthalmoplegia
Health Risk
RS139130605
Conflicting classifications of pathogenicity
Myopathy, proximal, and ophthalmoplegia
Health Risk
RS139212712
Conflicting classifications of pathogenicity
Myopathy, proximal, and ophthalmoplegia
Health Risk
RS139295564
Conflicting classifications of pathogenicity
Myopathy, proximal, and ophthalmoplegia
Health Risk
RS139691540
Conflicting classifications of pathogenicity
Myopathy, proximal, and ophthalmoplegia
Health Risk
RS140468333
Conflicting classifications of pathogenicity
Myopathy, proximal, and ophthalmoplegia
Health Risk
RS140527143
Conflicting classifications of pathogenicity
Myopathy, proximal, and ophthalmoplegia
Health Risk
RS141764966
Conflicting classifications of pathogenicity
Myopathy, proximal, and ophthalmoplegia
Health Risk
All Variants (131)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS890845570 | Health Risk | Conflicting classifications of pathogenicity | Myopathy, proximal, and ophthalmoplegia |
| RS965291972 | Health Risk | Conflicting classifications of pathogenicity | Myopathy, proximal, and ophthalmoplegia |
| RS1234832404 | Health Risk | Likely pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS1268310821 | Health Risk | Likely pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS1280851724 | Health Risk | Likely pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS1349048266 | Health Risk | Likely pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS1567734638 | Health Risk | Likely pathogenic | — |
| RS201082272 | Health Risk | Likely pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS201790813 | Health Risk | Likely pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2073335561 | Health Risk | Likely pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2073357260 | Health Risk | Likely pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2073501817 | Health Risk | Likely pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2142290339 | Health Risk | Likely pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2142293525 | Health Risk | Likely pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2142303290 | Health Risk | Likely pathogenic | — |
| RS2142305562 | Health Risk | Likely pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2142318412 | Health Risk | Likely pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2142319855 | Health Risk | Likely pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS754104695 | Health Risk | Likely pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS770945288 | Health Risk | Likely pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS779103482 | Health Risk | Likely pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS781504304 | Health Risk | Likely pathogenic | Childhood-onset autosomal recessive myopathy with external ophthalmoplegia, Myopathy, proximal |
| RS797045096 | Health Risk | Likely pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS973700825 | Health Risk | Likely pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS1007918379 | Health Risk | Pathogenic | — |
| RS1027921042 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS1187271694 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS121434589 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS1226690028 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS1230553094 | Health Risk | Pathogenic | — |
| RS1250462450 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS1372709572 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS1435997919 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS147708782 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS1567730339 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2073330917 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2073340697 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2073494828 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2142293598 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2142297044 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2142299866 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2142303605 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2142305450 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2142309612 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2508409130 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2508413490 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2508414007 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2508417068 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2508417397 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |
| RS2508428819 | Health Risk | Pathogenic | Myopathy, proximal, and ophthalmoplegia |