CAPN5 calpain 5
Gene ID: 726, updated on 27-Nov-2024Gene type: protein coding
Also known as: VRNI; ADNIV; HTRA3; nCL-3
- See all available tests in GTR for this gene
- Go to complete Gene record for CAPN5
- Go to Variation Viewer for CAPN5 variants
Summary
Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. GeneReviews: Not available | |
| Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. GeneReviews: Not available | |
| Proliferative vitreoretinopathy | See labs |
Genomic context
- Location:
- 11q13.5
- Sequence:
- Chromosome: 11; NC_000011.10 (77066971..77126155)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CAPN5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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