IRF5 wt Allele

Preferred Label : IRF5 wt Allele;

NCIt synonyms : IBD14; SLEB10; Interferon Regulatory Factor 5 wt Allele;

NCIt definition : Human IRF5 wild-type allele is located in the vicinity of 7q32 and is approximately 12 kb in length. This allele, which encodes interferon regulatory factor 5 protein, plays a role in the regulation of interferon and inflammatory cytokine expression. Mutation of the gene is associated with inflammatory bowel disease 14 and susceptibility to systemic lupus erythematosus 10.;

GenBank Accession Number : NM_001098627;

Details

Origin ID

C124987;

UMLS CUI

C4084870;

Automatic exact mappings (from CISMeF team)
- Inflammatory bowel disease 14 [OMIM Phenotype]
- Systemic lupus erythematosus, susceptibility to, 10 [OMIM Phenotype]
- inflammatory bowel disease 14 [MeSH Supplementary Concept]
- inflammatory bowel disease 14 [DO Concept]
OMIM relation
- Interferon regulatory factor 5 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Toll-Like Receptor Signaling Pathway [NCIt concept]
- p53 Effector Pathway [NCIt concept]
gene_plays_role_in_process
- Antiviral Response [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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