GATA3

Chr 10

GATA binding protein 3

Also known as: HDR, HDRS

NCBI Gene: 2625 ENSG00000107485 UniProt: P23771

The GATA3 transcription factor binds to specific DNA sequences to regulate T-cell development and differentiation, particularly in Th2 immune responses, and also functions in endothelial cell biology. Loss-of-function mutations cause autosomal dominant hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR syndrome). The gene is highly intolerant to loss-of-function variants, consistent with haploinsufficiency as the underlying disease mechanism.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHypoparathyroidism, sensorineural deafness, and renal disease

Clinical highlights

Gene-disease validity (ClinGen)

hypoparathyroidism-deafness-renal disease syndrome · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

776

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

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GeneReview available — GATA3

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Some data sources returned errors (2)

gnomad: TimeoutError: The operation was aborted due to timeout

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GATA3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

DECIPHER

Genomic variants and phenotypes in rare disease patients

📖

GeneReview available — GATA3

Authoritative clinical overview · NCBI Bookshelf · Recommended first read

Open GeneReview ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

HER 2 Negative Breast Cancer

A Multicenter, Single-Arm, Phase II Exploratory Study of Eribulin in Combination With Anlotinib for HER2-Negative Recurrent/Metastatic Breast Cancer Previously Treated With Antibody-Drug Conjugates

RECRUITING

NCT07520760Phase PHASE2Sun Yat-sen UniversityStarted 2026-04-01

Eribulin in Combination with Anlotinib

Breast Cancer

Investigation of the Prognostic Value of Patterns of Genomic Alterations or Protein Expression in Patients With Operated Early Breast Cancer

ACTIVE NOT RECRUITING

NCT07630558Hellenic Cooperative Oncology GroupStarted 1997-01-31

Transplantation InfectionKidney Diseases

Molecular Biological and Moleculargenetic Monitoring of Therapy After Kidney Transplantation

RECRUITING

NCT01515605Odense University HospitalStarted 2011-01-01

Clinical Literature