CMYA5 cardiomyopathy associated 5
Gene ID: 202333, updated on 17-Sep-2024Gene type: protein coding
Also known as: SPRYD2; TRIM76; C5orf10
- See all available tests in GTR for this gene
- Go to complete Gene record for CMYA5
- Go to Variation Viewer for CMYA5 variants
Summary
Predicted to enable identical protein binding activity. Predicted to act upstream of or within negative regulation of calcineurin-NFAT signaling cascade; negative regulation of phosphoprotein phosphatase activity; and regulation of skeletal muscle adaptation. Located in cytosol; nuclear speck; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Combined linkage and association analyses identify a novel locus for obesity near PROX1 in Asians. GeneReviews: Not available | |
| Genome-wide association study of selenium concentrations. GeneReviews: Not available |
Genomic context
- Location:
- 5q14.1
- Sequence:
- Chromosome: 5; NC_000005.10 (79689836..79800222)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CMYA5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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