CMYA5 Chromosome 5
Cardiomyopathy associated 5
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What This Gene Does
Predicted to enable identical protein binding activity and protein phosphatase inhibitor activity. Predicted to act upstream of or within negative regulation of calcineurin-NFAT signaling cascade and regulation of skeletal muscle adaptation. Predicted to be located in several cellular components, including costamere; perinuclear region of cytoplasm; and sarcoplasmic reticulum. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Tripartite motif family|A-kinase anchoring proteins|Fibronectin type III domain containing"
Locus Type
gene with protein product
Location
5q14.1
Ensembl
ENSG00000164309
Key Variants
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146631524 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147271727 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148980576 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61730049 | Health Risk | Conflicting classifications of pathogenicity | — |