XIRP2

Chr 2

xin actin binding repeat containing 2

Also known as: CMYA3

NCBI Gene: 129446 ENSG00000163092 UniProt: A4UGR9

XIRP2 encodes a protein that protects actin filaments from depolymerization and is essential for cardiomyocyte membrane morphology, intercalated disk maturation, and maintenance of cochlear stereocilia structure. Mutations cause cardiomyopathy with conduction defects and sensorineural hearing loss, inherited in an autosomal recessive pattern. The gene shows tolerance to loss-of-function variants (low pLI score), consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

Enables actin filament binding activity. Predicted to be involved in actin filament organization and regulation of actin filament organization. Predicted to act upstream of or within cardiac muscle tissue morphogenesis; cell-cell junction organization; and ventricular septum development. Located in focal adhesion and stress fiber. Implicated in depressive disorder. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.93

LOEUF

Multiple*

Mechanism· predicted