Gene: CAST

Alternate names for this Gene: BS-17|PLACK

Gene 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q15

Description of this Gene: calpastatin

Type of Gene: protein-coding

rs72772090 in CAST gene and Alanine aminotransferase measurement PMID 28090653 2017 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy.

rs27037 in CAST gene and Ankylosing spondylitis PMID 20062062 2010 Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.

rs3822683 in CAST gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs72772090 in CAST gene and Precursor Cell Lymphoblastic Leukemia Lymphoma PMID 28090653 2017 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy.

rs72772090 in CAST gene and Serum Alanine Aminotransferase Measurement PMID 28090653 2017 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy.