Gene: IRF4

Alternate names for this Gene: LSIRF|MUM1|NF-EM5|SHEP8

Gene Summary: The protein encoded by this gene belongs to the IRF (interferon regulatory factor) family of transcription factors, characterized by an unique tryptophan pentad repeat DNA-binding domain. The IRFs are important in the regulation of interferons in response to infection by virus, and in the regulation of interferon-inducible genes. This family member is lymphocyte specific and negatively regulates Toll-like-receptor (TLR) signaling that is central to the activation of innate and adaptive immune systems. A chromosomal translocation involving this gene and the IgH locus, t(6;14)(p25;q32), may be a cause of multiple myeloma. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p25.3

Description of this Gene: interferon regulatory factor 4

Type of Gene: protein-coding

rs2316515 in IRF4 gene and Adenocarcinoma of lung (disorder) PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs12203592 in IRF4 gene and Alopecia PMID 28196072 2017 Genetic prediction of male pattern baldness.

rs6906608 in IRF4 gene and Alopecia Areata PMID 25608926 2015 Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci.

rs12203592 in IRF4 gene and Alopecia, Androgenetic, 1 PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs12203592 in IRF4 gene and Alopecia, Androgenetic, 2 PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs12203592 in IRF4 gene and Alopecia, Androgenetic, 3 PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

rs12203592 in IRF4 gene and Alopecia, Male Pattern PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs12203592 in IRF4 gene and Androgenetic Alopecia PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

rs9391997 in IRF4 gene and Asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

rs12203592 in IRF4 gene and Basal Cell Cancer PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs12203592 in IRF4 gene and Basal Cell Neoplasm PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

rs12203592 in IRF4 gene and Basal cell carcinoma PMID 27539887 2016 Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs1050976 in IRF4 gene and Celiac Disease PMID 22057235 2011 Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.

rs9391997 in IRF4 gene and Childhood asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

PMID 31036433 2019 Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.

rs1050976 in IRF4 gene and Chronic Lymphocytic Leukemia PMID 23770605 2013 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.

PMID 18758461 2008 We identified six previously unreported CLL risk loci at 2q13 (rs17483466; P = 2.36 x 10(-10)), 2q37.1 (rs13397985, SP140; P = 5.40 x 10(-10)), 6p25.3 (rs872071, IRF4; P = 1.91 x 10(-20)), 11q24.1 (rs735665; P = 3.78 x 10(-12)), 15q23 (rs7176508; P = 4.54 x 10(-12)) and 19q13.32 (rs11083846, PRKD2; P = 3.96 x 10(-9)).

PMID 22700719 2012 Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.

PMID 24292274 2014 A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.

PMID 26956414 2016 Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia.

rs2797305 in IRF4 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs872071 in IRF4 gene and Erectile dysfunction PMID 22704111 2012 Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.

rs12203592 in IRF4 gene and Eye Color PMID 20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.

PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

rs12203592 in IRF4 gene and Freckles PMID 20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.

rs12203592 in IRF4 gene and Hair Color PMID 23548203 2013 Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.

PMID 20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.

PMID 18483556 2008 After adjustment for rs12203592, the association between rs1540771 and hair color was not significant (p = 0.52).

PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

rs1050976 in IRF4 gene and Hypothyroidism PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs397750039 in IRF4 gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs12203592 in IRF4 gene and Melanosis PMID 20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.

PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

rs1050976 in IRF4 gene and Multiple Myeloma PMID 30213928 2018 Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.

rs872071 in IRF4 gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs12203592 in IRF4 gene and Other alopecia PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs12203592 in IRF4 gene and Progressive supranuclear palsy PMID 21685912 2011 Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

rs12203592 in IRF4 gene and Skin Pigmentation PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

PMID 25963972 2015 Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.

PMID 23548203 2013 Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.

rs12203592 in IRF4 gene and Skin carcinoma PMID 23548203 2013 Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.

rs872071 in IRF4 gene and Small Lymphocytic Lymphoma PMID 24292274 2014 A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.

PMID 23770605 2013 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.

PMID 18758461 2008 A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia.

PMID 22700719 2012 Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.

PMID 26956414 2016 Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia.

rs12203592 in IRF4 gene and Squamous cell carcinoma PMID 26829030 2016 Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma.

PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs12203592 in IRF4 gene and Squamous cell carcinoma of skin PMID 27424798 2016 Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma.

rs12203592 in IRF4 gene and Suntan PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

PMID 23548203 2013 Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.

PMID 29739929 2018 Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.

rs12203592 in IRF4 gene and Vitiligo PMID 27723757 2016 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.

rs12203592 in IRF4 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.