IRF9 Chromosome 14
Interferon regulatory factor 9
Upload your DNA to see your personal genotypes for variants in IRF9.
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. Mutations in this gene result in Immunodeficiency 65. [provided by RefSeq, Jul 2020]
Gene Info
Gene Group
Interferon regulatory factors
Locus Type
gene with protein product
Location
14q12
Ensembl
ENSG00000213928
Associated Conditions (2)
Immunodeficiency 65
susceptibility to viral infections
Key Variants
RS199740615
Conflicting classifications of pathogenicity
Health Risk
RS749049284
Conflicting classifications of pathogenicity
Health Risk
RS755364562
Conflicting classifications of pathogenicity
Health Risk
RS1594389703
risk factor
Immunodeficiency 65, susceptibility to viral infections, Immunodeficiency 65
Health Risk
RS1594390415
risk factor
Immunodeficiency 65, susceptibility to viral infections, Immunodeficiency 65
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199740615 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS749049284 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755364562 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1594389703 | Health Risk | risk factor | Immunodeficiency 65, susceptibility to viral infections, Immunodeficiency 65 |
| RS1594390415 | Health Risk | risk factor | Immunodeficiency 65, susceptibility to viral infections, Immunodeficiency 65 |