CASP8AP2 wt Allele

Preferred Label : CASP8AP2 wt Allele;

NCIt synonyms : FLASH; FLJ11208; RIP25; KIAA1315; CED-4; Caspase 8 Associated Protein 2 wt Allele;

NCIt definition : Human CASP8AP2 wild-type allele is located in the vicinity of 6q15 and is approximately 45 kb in length. This allele, which encodes CASP8-associated protein 2, plays a role in the regulation of apoptosis.;

NCIt note : There is a report of a fusion involving the CASP8AP2 gene and the KMT2A (MLL) gene. This fusion may be associated with hematopoietic neoplasms. (COSMIC);

NCI Metathesaurus CUI : CL505059;

GenBank Accession Number : AB037736;

Details

Origin ID

C126618;

UMLS CUI

C4284306;

Automatic exact mappings (from CISMeF team)
- Caspase 8-associated protein 2 [OMIM gene]
- Flash (qualifier value) [SNOMED CT concept]
- Flashing (disorder) [SNOMED CT concept]
- Photopsia (disorder) [SNOMED CT concept]
OMIM relation
- Caspase 8-associated protein 2 [OMIM gene]
See also inter- (CISMeF)
- Cranioectodermal dysplasia 4 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Caspase Activation [NCIt concept]
- Caspase-Dependent Apoptosis [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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