Gene: IKZF3
Alternate names for this Gene: AIO|AIOLOS|ZNFN1A3
Gene Summary: This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants.
Gene is located in Chromosome: 17
Location in Chromosome : 17q12-q21.1
Description of this Gene: IKAROS family zinc finger 3
Type of Gene: protein-coding
rs10445308 in
IKZF3 gene and
Allergic Reaction
PMID 23817569 2013 A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
rs10445308 in
IKZF3 gene and
Asthma
PMID 21804549 2011 Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.
PMID 24388013 2014 Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
PMID 30787307 2019 Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations.
PMID 28461288 2017 Moreover, we examined whether susceptibility loci identified in previous meta-analyses of GWAS are associated with asthma in Puerto Ricans.The only locus to achieve genome-wide significance was chromosome 17q21, as evidenced by our top single nucleotide polymorphism (SNP), rs907092 (OR 0.71, p=1.2×10<sup>-12</sup>) at <i>IKZF3</i> Similar to results in non-Puerto Ricans, SNPs in genes in the same linkage disequilibrium block as <i>IKZF3</i> (<i>e.g.
PMID 20860503 2010 A large-scale, consortium-based genomewide association study of asthma.
PMID 24406073 2014 Genome-wide association study and admixture mapping identify different asthma-associated loci in Latinos: the Genes-environments & Admixture in Latino Americans study.
rs9303277 in
IKZF3 gene and
Biliary cirrhosis
PMID 20639880 2010 Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
rs10445308 in
IKZF3 gene and
Childhood asthma
PMID 26542096 2015 Meta-analysis identifies seven susceptibility loci involved in the atopic march.
PMID 17611496 2007 Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma.
rs10445308 in
IKZF3 gene and
Dermatitis, Atopic
PMID 26542096 2015 Meta-analysis identifies seven susceptibility loci involved in the atopic march.
rs13313564 in
IKZF3 gene and
Eosinophil count procedure
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs907091 in
IKZF3 gene and
Esophageal Neoplasms
PMID 22960999 2012 Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.
rs12450323 in
IKZF3 gene and
Hay fever
PMID 24388013 2014 Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
rs8071789 in
IKZF3 gene and
Immunoglobulin A deficiency (disorder)
PMID 27723758 2016 Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.
rs143123127 in
IKZF3 gene and
Lupus Erythematosus, Systemic
PMID 26502338 2015 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.
PMID 31407831 2019 Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.
rs34233420 in
IKZF3 gene and
Lymphocyte Count measurement
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
rs2941509 in
IKZF3 gene and
Marginal Zone B-Cell Lymphoma
PMID 31407831 2019 Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.
rs2060941 in
IKZF3 gene and
Polycystic Ovary Syndrome
PMID 30343302 2019 High Genetic Risk Scores of ASIC2, MACROD2, CHRM3, and C2orf83 Genetic Variants Associated with Polycystic Ovary Syndrome Impair Insulin Sensitivity and Interact with Energy Intake in Korean Women.
rs10445308 in
IKZF3 gene and
Primary biliary cirrhosis
PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
PMID 30643196 2019 POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33.
PMID 22936693 2012 Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.
PMID 20639880 2010 Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.
PMID 28062665 2017 Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
PMID 23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
PMID 28425483 2017 A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.
rs8071789 in
IKZF3 gene and
Selective immunoglobulin A deficiency
PMID 27723758 2016 Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.
rs12943633 in
IKZF3 gene and
White Blood Cell Count procedure
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.