IRF5 Chromosome 7
Interferon regulatory factor 5
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What This Gene Does
This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Alternative promoter use and alternative splicing result in multiple transcript variants, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa segment. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
Interferon regulatory factors
Locus Type
gene with protein product
Location
7q32.1
Ensembl
ENSG00000128604
Associated Conditions (6)
Systemic lupus erythematosus
susceptibility to
10
SYSTEMIC LUPUS ERYTHEMATOSUS
ASSOCIATION WITH SUSCEPTIBILITY TO
Inflammatory bowel disease 14
Key Variants
RS10954213
risk factor
Systemic lupus erythematosus, susceptibility to, 10
Health Risk
RS2070197
risk factor
SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH SUSCEPTIBILITY TO, 10
Health Risk
RS77571059
risk factor
Inflammatory bowel disease 14, susceptibility to, Systemic lupus erythematosus
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS10954213 | Health Risk | risk factor | Systemic lupus erythematosus, susceptibility to, 10 |
| RS2070197 | Health Risk | risk factor | SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH SUSCEPTIBILITY TO, 10 |
| RS77571059 | Health Risk | risk factor | Inflammatory bowel disease 14, susceptibility to, Systemic lupus erythematosus |