CASP10 wt Allele

Preferred Label : CASP10 wt Allele;

NCIt synonyms : Caspase-10 Gene; Apoptotic Protease MCH-4 Gene; MCH4; Caspase 10, Apoptosis-Related Cysteine Protease Gene; FAS-Associated Death Domain Protein Interleukin-1B-Converting Enzyme 2 Gene; Fas-Associated Death Domain Protein Gene; FLICE2; Interleukin-1B-Converting Enzyme 2 Gene; ICE-Like Apoptotic Protease 4 Gene; ALPS2; FADD-Like ICE2 Gene; Caspase 10 wt Allele; FLICE-2; Caspase 10, Apoptosis-Related Cysteine Peptidase Gene;

NCIt definition : Human CASP10 wild-type allele is located within 2q33-q34 and is approximately 46 kb in length. This allele, which encodes caspase-10 protein, plays a role in the activation of caspase-dependent apoptosis. Defects in the CASP10 gene are the cause of type II autoimmune lymphoproliferative syndrome.;

GenBank Accession Number : NM_032977;

Details

Origin ID

C49547;

UMLS CUI

C1705060;

OMIM relation
- Caspase 10, 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
- Non-Hodgkin Lymphoma [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- CASP10 Gene Mutation [NCIt concept]
gene_has_physical_location
- 2: 201873361-201919616 [NCIt concept]
gene_in_chromosomal_location
- 2q33-q34 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Autoimmune Lymphoproliferative Syndrome with Germline CASP10 Mutation [NCIt concept]
gene_is_element_in_pathway
- Apoptosis Pathway [NCIt concept]
- Caspase Cascade Pathway [NCIt concept]
- Caspase Cascade in Apoptosis [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]
- RIG-I-Like Receptor Signaling Pathway [NCIt concept]
- TRAIL Signaling Pathway [NCIt concept]
- p53 Effector Pathway [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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