CAPN10 calpain 10
Gene ID: 11132, updated on 30-Mar-2024Gene type: protein coding
Also known as: CANP10; NIDDM1
- See all available tests in GTR for this gene
- Go to complete Gene record for CAPN10
- Go to Variation Viewer for CAPN10 variants
Summary
Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Diabetes mellitus, noninsulin-dependent, 1 | See labs |
Genomic context
- Location:
- 2q37.3
- Sequence:
- Chromosome: 2; NC_000002.12 (240586734..240599104)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CAPN10 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CAPN10 database
- 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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