Gene: IRF5

Alternate names for this Gene: SLEB10

Gene Summary: 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q32.1

Description of this Gene: interferon regulatory factor 5

Type of Gene: protein-coding

rs3807307 in IRF5 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3807307 in IRF5 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3807307 in IRF5 gene and AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3807307 in IRF5 gene and Autoimmune Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2004640 in IRF5 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3757387 in IRF5 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3757387 in IRF5 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs3807307 in IRF5 gene and Hypothyroidism PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10954214 in IRF5 gene and Lupus Erythematosus, Systemic PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

PMID 26663301 2016 Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans.

PMID 19838195 2009 A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.

PMID 26502338 2015 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.

PMID 27399966 2016 Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.

PMID 28714469 2017 Transancestral mapping and genetic load in systemic lupus erythematosus.

PMID 24871463 2014 GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

PMID 21408207 2011 Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.

rs3807306 in IRF5 gene and Myocardial Infarction PMID 21211798 2011 Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.

rs10954214 in IRF5 gene and Myositis PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

rs3757387 in IRF5 gene and Oral Ulcer PMID 30837455 2019 Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.

rs3757387 in IRF5 gene and Primary biliary cirrhosis PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.

rs10954214 in IRF5 gene and Rheumatoid Arthritis PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

PMID 30423114 2019 Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.

PMID 23143596 2012 High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.

PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

rs3757387 in IRF5 gene and Sjogren's Syndrome PMID 24097067 2013 Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome.

PMID 28076899 2017 Genome-Wide Association Analysis Reveals Genetic Heterogeneity of Sjögren's Syndrome According to Ancestry.

rs10954214 in IRF5 gene and Systemic Scleroderma PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.