Gene: CASP8

Alternate names for this Gene: ALPS2B|CAP4|Casp-8|FLICE|MACH|MCH5

Gene Summary: This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined.

Gene is located in Chromosome: 2

Location in Chromosome : 2q33.1

Description of this Gene: caspase 8

Type of Gene: protein-coding

rs3769823 in CASP8 gene and Basal Cell Cancer PMID 28177523 2017 Association between genetic variation within vitamin D receptor-DNA binding sites and risk of basal cell carcinoma.

rs3769823 in CASP8 gene and Basal Cell Neoplasm PMID 28177523 2017 Association between genetic variation within vitamin D receptor-DNA binding sites and risk of basal cell carcinoma.

rs3769823 in CASP8 gene and Basal cell carcinoma PMID 28177523 2017 Association between genetic variation within vitamin D receptor-DNA binding sites and risk of basal cell carcinoma.

rs3769821 in CASP8 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs3769825 in CASP8 gene and Chronic Lymphocytic Leukemia PMID 23770605 2013 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.

rs10931936 in CASP8 gene and Esophageal Neoplasms PMID 22323360 2012 Genotypic variants at 2q33 and risk of esophageal squamous cell carcinoma in China: a meta-analysis of genome-wide association studies.

rs6735656 in CASP8 gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3769821 in CASP8 gene and Non-Small Cell Lung Carcinoma PMID 31326317 2019 Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations.

rs59308963 in CASP8 gene and Prostate carcinoma PMID 29892016 2018 Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.

rs3769825 in CASP8 gene and Small Lymphocytic Lymphoma PMID 23770605 2013 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.

rs3769823 in CASP8 gene and Triglycerides measurement PMID 29083408 2017 Exome-wide association study of plasma lipids in >300,000 individuals.

rs10931933 in CASP8 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10931936 in CASP8 gene and melanoma PMID 21983787 2011 Genome-wide association study identifies three new melanoma susceptibility loci.