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GATA3 GATA binding protein 3

Gene ID: 2625, updated on 23-Jan-2022
Gene type: protein coding
Also known as: HDR; HDRS

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. [provided by RefSeq, Nov 2009]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
GeneReviews: Not available
A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).
GeneReviews: Not available
A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus.
GeneReviews: Not available
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
GeneReviews: Not available
Genome-wide diet-gene interaction analyses for risk of colorectal cancer.
GeneReviews: Not available
Hypoparathyroidism, deafness, renal disease syndrome
MedGen: C1840333OMIM: 146255GeneReviews: Not available
See labs
Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.
GeneReviews: Not available
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
GeneReviews: Not available
Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.
GeneReviews: Not available
Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.
GeneReviews: Not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-06-24)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-06-24)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
10p14
Sequence:
Chromosome: 10; NC_000010.11 (8045420..8075198)
Total number of exons:
8

Links

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