CAST calpastatin
Gene ID: 831, updated on 10-Oct-2024Gene type: protein coding
Also known as: BS-17; PLACK; MIR583HG
- See all available tests in GTR for this gene
- Go to complete Gene record for CAST
- Go to Variation Viewer for CAST variants
Summary
The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. GeneReviews: Not available | |
| Genome-wide association study of alcohol dependence. GeneReviews: Not available | |
| Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups. GeneReviews: Not available | |
| Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome | See labs |
Genomic context
- Location:
- 5q15
- Sequence:
- Chromosome: 5; NC_000005.10 (95961429..96774683)
- Total number of exons:
- 49
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CAST 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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