MYOM2 Chromosome 8
Myomesin 2
Upload your DNA to see your personal genotypes for variants in MYOM2.
What This Gene Does
The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"I-set domain containing|Myosin binding proteins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
8p23.3
Ensembl
ENSG00000036448
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148851201 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200959191 | Health Risk | Conflicting classifications of pathogenicity | — |