MYOM2

Chr 8

myomesin 2

Also known as: TTNAP

NCBI Gene: 9172 ENSG00000036448 UniProt: P54296 OMIM: 603509

MYOM2 encodes a major component of the myofibrillar M band that binds myosin, titin, and light meromyosin in muscle sarcomeres. Mutations cause hypertrophic cardiomyopathy and tetralogy of Fallot with autosomal dominant inheritance. The gene shows low constraint against loss-of-function variants, suggesting tolerance to heterozygous disruption.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.48

LOEUF

Multiple*

Mechanism· predicted