Gene: IKZF1

Alternate names for this Gene: CVID13|Hs.54452|IK1|IKAROS|LYF1|LyF-1|PPP1R92|PRO0758|ZNFN1A1

Gene Summary: This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions as a regulator of lymphocyte differentiation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. Most isoforms share a common C-terminal domain, which contains two zinc finger motifs that are required for hetero- or homo-dimerization, and for interactions with other proteins. The isoforms, however, differ in the number of N-terminal zinc finger motifs that bind DNA and in nuclear localization signal presence, resulting in members with and without DNA-binding properties. Only a few isoforms contain the requisite three or more N-terminal zinc motifs that confer high affinity binding to a specific core DNA sequence element in the promoters of target genes. The non-DNA-binding isoforms are largely found in the cytoplasm, and are thought to function as dominant-negative factors. Overexpression of some dominant-negative isoforms have been associated with B-cell malignancies, such as acute lymphoblastic leukemia (ALL).

Gene is located in Chromosome: 7

Location in Chromosome : 7p12.2

Description of this Gene: IKAROS family zinc finger 1

Type of Gene: protein-coding

rs150640087 in IKZF1 gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs184035716 in IKZF1 gene and Body Height PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs7797772 in IKZF1 gene and Clostridium difficile infection PMID 29594489 2018 Host genetic susceptibility to Clostridium difficile infections in patients undergoing autologous stem cell transplantation: a genome-wide association study.

rs10230385 in IKZF1 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs62447205 in IKZF1 gene and Diabetes Mellitus, Insulin-Dependent PMID 25751624 2015 Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.

rs150640087 in IKZF1 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs6592965 in IKZF1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs770551610 in IKZF1 gene and IMMUNODEFICIENCY, COMMON VARIABLE, 13 PMID 26981933 2016 Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

PMID 21548011 2012 Congenital pancytopenia and absence of B lymphocytes in a neonate with a mutation in the Ikaros gene.

rs12718597 in IKZF1 gene and Mean Corpuscular Volume (result) PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

PMID 28453575 2017 Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs149007767 in IKZF1 gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs149007767 in IKZF1 gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs7797772 in IKZF1 gene and Multiple Myeloma PMID 29594489 2018 Host genetic susceptibility to Clostridium difficile infections in patients undergoing autologous stem cell transplantation: a genome-wide association study.

rs11978267 in IKZF1 gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs7804185 in IKZF1 gene and Oral Ulcer PMID 30837455 2019 Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.

rs11980379 in IKZF1 gene and Precursor B-Cell Lymphoblastic Leukemia-Lymphoma PMID 23996088 2013 Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.

PMID 29296818 2017 Genetic association with B-cell acute lymphoblastic leukemia in allogeneic transplant patients differs by age and sex.

PMID 29632299 2018 Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.

rs11978267 in IKZF1 gene and Precursor Cell Lymphoblastic Leukemia Lymphoma PMID 19684603 2009 Germline genomic variants associated with childhood acute lymphoblastic leukemia.

PMID 22076464 2012 Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.

PMID 29348612 2018 GWAS in childhood acute lymphoblastic leukemia reveals novel genetic associations at chromosomes 17q12 and 8q24.21.

PMID 23512250 2013 Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations.

PMID 19684604 2009 Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia.

rs12534526 in IKZF1 gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

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.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs6592965 in IKZF1 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.