TRAF3IP2 wt Allele

Preferred Label : TRAF3IP2 wt Allele;

NCIt synonyms : Chromosome 6 Open Reading Frame 4 Gene; Chromosome 6 Open Reading Frame 2 Gene; CIKS; DKFZP586G0522; PSORS13; TRAF3 Interacting Protein 2 wt Allele; ACT1; C6orf2; C6orf4; C6orf5; CANDF8; C6orf6; Chromosome 6 Open Reading Frame 6 Gene; Chromosome 6 Open Reading Frame 5 Gene;

NCIt definition : Human TRAF3IP2 wild-type allele is located in the vicinity of 6q21 and is approximately 52 kb in length. This allele, which encodes E3 ubiquitin ligase TRAF3IP2 protein, plays a role in both protein polyubiquitination and the activation of nuclear factor kappa-B and mitogen-activated protein kinase 8. Polymorphism in the gene is associated with increased susceptibility for psoriasis and homozygous mutation in the gene is associated with familial chronic mucocutaneous candidiasis-8.;

NCI Metathesaurus CUI : CL1648061;

GenBank Accession Number : AF136405;

Details

Origin ID

C178601;

UMLS CUI

C5550984;

Automatic exact mappings (from CISMeF team)
- Candidiasis, familial, 8 [OMIM Phenotype]
- Psoriasis 13, susceptibility to [OMIM Phenotype]
- TRAF3 interacting protein 2 [ORDO Gene]
- Traf3-interacting protein 2 [OMIM gene]
- psoriasis 13 [DO Concept]
OMIM relation
- Traf3-interacting protein 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6p21 [NCIt concept]
gene_plays_role_in_process
- Interleukin Signaling Process [NCIt concept]
- Polyubiquitination [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]
- Ubiquitination [NCIt concept]

Keyword's position in hierarchy(ies) :

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