Gene: GATA3

Alternate names for this Gene: HDR|HDRS

Gene Summary: This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia.

Gene is located in Chromosome: 10

Location in Chromosome : 10p14

Description of this Gene: GATA binding protein 3

Type of Gene: protein-coding

rs4143094 in GATA3 gene and Adenocarcinoma of large intestine PMID 24743840 2014 Genome-wide diet-gene interaction analyses for risk of colorectal cancer.

rs11255504 in GATA3 gene and Adult onset asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

rs10905284 in GATA3 gene and Asthma PMID 30552067 2019 Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study.

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

PMID 31619474 2019 Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.

rs104894163 in GATA3 gene and Barakat syndrome PMID 10935639 2000 GATA3 haplo-insufficiency causes human HDR syndrome.

PMID 11389161 2001 GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.

PMID 26514990 2015 A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome.

rs4143094 in GATA3 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 24743840 2014 Genome-wide diet-gene interaction analyses for risk of colorectal cancer.

rs4143094 in GATA3 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 24743840 2014 Genome-wide diet-gene interaction analyses for risk of colorectal cancer.

rs4143094 in GATA3 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 24743840 2014 Genome-wide diet-gene interaction analyses for risk of colorectal cancer.

rs4143094 in GATA3 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 24743840 2014 Genome-wide diet-gene interaction analyses for risk of colorectal cancer.

rs4143094 in GATA3 gene and Colorectal Carcinoma PMID 24743840 2014 The risk of colorectal cancer associated with processed meat was increased among individuals with the rs4143094-TG and -TT genotypes (OR = 1.20 and OR = 1.39, respectively) and null among those with the GG genotype (OR = 1.03).

rs4143094 in GATA3 gene and Colorectal Neoplasms PMID 24743840 2014 Genome-wide diet-gene interaction analyses for risk of colorectal cancer.

rs3802604 in GATA3 gene and Diabetes Mellitus, Insulin-Dependent PMID 31152121 2019 We identified four T1D risk loci reaching genome-wide significance in the Chinese Han population, including two novel loci, rs4320356 near <i>BTN3A1</i> (odds ratio [OR] 1.26, <i>P</i> = 2.70 × 10<sup>-8</sup>) and rs3802604 in <i>GATA3</i> (OR 1.24, <i>P</i> = 2.06 × 10<sup>-8</sup>), and two previously reported loci, rs1770 in MHC (OR 4.28, <i>P</i> = 2.25 × 10<sup>-232</sup>) and rs705699 in <i>SUOX</i> (OR 1.46, <i>P</i> = 7.48 × 10<sup>-20</sup>).

rs10905284 in GATA3 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.

rs3781093 in GATA3 gene and Hodgkin Disease PMID 29196614 2017 We identify risk loci for all classical Hodgkin lymphoma at 6q22.33 (rs9482849, P = 1.52 × 10<sup>-8</sup>) and for nodular sclerosis Hodgkin lymphoma at 3q28 (rs4459895, P = 9.43 × 10<sup>-17</sup>), 6q23.3 (rs6928977, P = 4.62 × 10<sup>-11</sup>), 10p14 (rs3781093, P = 9.49 × 10<sup>-13</sup>), 13q34 (rs112998813, P = 4.58 × 10<sup>-8</sup>) and 16p13.13 (rs34972832, P = 2.12 × 10<sup>-8</sup>).

rs1244181 in GATA3 gene and Immunoglobulin A deficiency (disorder) PMID 27723758 2016 Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.

rs4143094 in GATA3 gene and Malignant neoplasm of large intestine PMID 24743840 2014 The risk of colorectal cancer associated with processed meat was increased among individuals with the rs4143094-TG and -TT genotypes (OR = 1.20 and OR = 1.39, respectively) and null among those with the GG genotype (OR = 1.03).

rs4143094 in GATA3 gene and Malignant tumor of colon PMID 24743840 2014 Genome-wide diet-gene interaction analyses for risk of colorectal cancer.

rs10905284 in GATA3 gene and Nasal Polyps PMID 30643255 2019 A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis.

rs3781093 in GATA3 gene and Nodular Sclerosis Classical Hodgkin Lymphoma PMID 29196614 2017 We identify risk loci for all classical Hodgkin lymphoma at 6q22.33 (rs9482849, P = 1.52 × 10<sup>-8</sup>) and for nodular sclerosis Hodgkin lymphoma at 3q28 (rs4459895, P = 9.43 × 10<sup>-17</sup>), 6q23.3 (rs6928977, P = 4.62 × 10<sup>-11</sup>), 10p14 (rs3781093, P = 9.49 × 10<sup>-13</sup>), 13q34 (rs112998813, P = 4.58 × 10<sup>-8</sup>) and 16p13.13 (rs34972832, P = 2.12 × 10<sup>-8</sup>).

rs3824662 in GATA3 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 29632299 2018 Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.

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

rs3781093 in GATA3 gene and Precursor Cell Lymphoblastic Leukemia Lymphoma PMID 24141364 2013 Inherited GATA3 variants are associated with Ph-like childhood acute lymphoblastic leukemia and risk of relapse.

PMID 25468567 2015 A genome-wide association study of susceptibility to acute lymphoblastic leukemia in adolescents and young adults.

rs3781094 in GATA3 gene and Respiratory Tract Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3781094 in GATA3 gene and Rheumatoid Arthritis PMID 24532676 2015 High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci.

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

PMID 24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.

rs1244181 in GATA3 gene and Selective immunoglobulin A deficiency PMID 27723758 2016 Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.