CASP8 wt Allele

Preferred Label : CASP8 wt Allele;

NCIt synonyms : MACH; Apoptotic Cysteine Protease Gene; Caspase-8 Gene; MACH-Beta-1/2/3/4 Protein Gene; MORT1-Associated CED3 Homolog Gene; MORT1-Associated CED-3 Homolog Gene; MCH5 Isoform Alpha Gene; ICE-Like Apoptotic Protease 5 Gene; Apoptotic Protease MCH-5 Gene; MACH-Alpha-1/2/3 Protein Gene; MCH5; FADD-Like ICE Gene; FLICE; FADD-Homologous ICE/CED3-Like Protease Gene; CAP4; Caspase 8 wt Allele; Caspase 8, Apoptosis-Related Cysteine Protease Gene; Caspase 8, Apoptosis Related Cysteine Protease Gene; Casp-8;

NCIt definition : Human CASP8 wild-type allele is located within 2q33-q34 and is approximately 54 kb in length. This allele, which encodes caspase-8 protein, plays a role in apoptosis via the cleavage and activation of caspases 3, 4, 6, 7, 9 and 10. Certain allelic variants of CASP8 are associated with caspase-8 protein deficiency and somatic hepatocellular carcinoma.;

GenBank Accession Number : NM_001228;

Details

Origin ID

C49560;

UMLS CUI

C1705065;

OMIM relation
- Caspase 8, apoptosis-related cysteine protease [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Central Nervous System Degenerative Disorder [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- CASP8 Gene Mutation [NCIt concept]
gene_has_physical_location
- 2: 201923719-201977938 [NCIt concept]
gene_in_chromosomal_location
- 2q33-q34 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Autoimmune Lymphoproliferative Syndrome with Germline CASP8 Mutation [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Apoptosis Pathway [NCIt concept]
- Caspase Cascade Pathway [NCIt concept]
- Caspase Cascade in Apoptosis [NCIt concept]
- Ceramide Signaling Pathway BioCarta [NCIt concept]
- Ceramide Signaling Pathway PID [NCIt concept]
- Chagas Disease Pathway [NCIt concept]
- Coregulation Pathway for Androgen Receptor Activity [NCIt concept]
- D4-GDI Signaling Pathway [NCIt concept]
- DR3 and DR4/5 Mediated Apoptosis Pathway [NCIt concept]
- FAS Signaling Pathway PID [NCIt concept]
- Fas Signaling Pathway BioCarta [NCIt concept]
- HIV-1 Nef: Negative Effector Pathway for Fas and TNF-Alpha [NCIt concept]
- HIV-I Nef in Apoptosis Pathway [NCIt concept]
- Huntington's Disease Pathway [NCIt concept]
- Integrin Angiogenesis Pathway [NCIt concept]
- Mitochondria in Apoptotic Signaling Pathway [NCIt concept]
- NOD-Like Receptor Signaling Pathway [NCIt concept]
- RIG-I-Like Receptor Signaling Pathway [NCIt concept]
- SODD/TNFR1 Signaling Pathway [NCIt concept]
- TNF Receptor Family Signaling Pathway [NCIt concept]
- TNFR1 Signaling Pathway [NCIt concept]
- TRAIL Signaling Pathway [NCIt concept]
- Toll-Like Receptor Signaling Pathway [NCIt concept]
- Viral Myocarditis Pathway [NCIt concept]
- p53 Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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