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GATA3

GATA binding protein 3
2 disorders 1 no genetic record 1 causative 10p14 gene with protein product
HGNC:4172MonarchNCBI Gene 2625ENSG00000107485UniProt P23771OMIM 131320

Aliases: HDR.

Normal function · from ai-gene-review (P23771, commit 79fe13b38970) · AI-generated, not KB evidence

GATA3 is a zinc finger transcription factor that serves as the master regulator of T-helper 2 (Th2) cell differentiation and a key regulator of T cell development, epithelial differentiation, and neuronal development. It binds DNA via two zinc finger domains at WGATAR consensus sequences and functions as a pioneer transcription factor capable of remodeling chromatin.

Binds to WGATAR consensus sequences in cis-regulatory regions via two C4-type zinc finger domains to regulate RNA polymerase II transcription
molecular function: RNA polymerase II cis-regulatory region sequence-specific DNA binding · directly involved in: positive regulation of DNA-templated transcription; negative regulation of transcription by RNA polymerase II
Activates transcription of Th2 cytokine genes (IL4, IL5, IL13) through direct promoter/enhancer binding and coactivator recruitment
molecular function: DNA-binding transcription activator activity, RNA polymerase II-specific · directly involved in: positive regulation of interleukin-4 production; positive regulation of interleukin-5 production; positive regulation of interleukin-13 production; positive regulation of T-helper 2 cell cytokine production · anatomical locations: bone marrow; spleen; lymph node
Functions as a pioneer transcription factor that binds to nucleosomal DNA and recruits chromatin remodeling complexes to establish enhancers; CHD4/NuRD counterbalances inappropriate pioneer activity via nucleosome positioning over GATA3 motifs
molecular function: chromatin binding · directly involved in: chromatin remodeling; positive regulation of DNA-templated transcription · locations: chromatin; nucleus
Acts as master regulator of Th2 cell differentiation by activating Th2-specific genes and repressing Th1 lineage genes; requires a distal enhancer ~900 kb downstream of GATA3 that loops to the Gata3 TSS in Th2 cells for in vivo differentiation and allergic airway inflammation
molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific · directly involved in: T-helper 2 cell differentiation; regulation of T-helper cell differentiation; negative regulation of type II interferon production; cell fate determination · anatomical locations: spleen; lymph node
Physically interacts with T-bet to mutually antagonize each other's transcriptional programs during Th1/Th2 lineage decisions
molecular function: DNA-binding transcription factor binding · directly involved in: regulation of T-helper cell differentiation; negative regulation of type II interferon production
Regulates CD4+ T cell development in the thymus by inducing ThPOK and promoting CD4 lineage commitment
molecular function: DNA-binding transcription activator activity, RNA polymerase II-specific · directly involved in: T cell differentiation in thymus; thymus development; thymic T cell selection; pro-T cell differentiation · anatomical locations: thymus · substrates: ZBTB7B promoter; TCF7 promoter; CD4 regulatory elements
Forms transcriptional complexes with c-Myb, Menin, and MLL to maintain Th2 cell identity through histone modifications
molecular function: transcription coactivator binding · directly involved in: T-helper 2 cell differentiation; positive regulation of gene expression
In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Hypoparathyroidism-Deafness-Renal Disease Syndrome causative germline loss of function
mechanism: GATA3 Haploinsufficiency
Asthma no genetic record
mechanism: Type 2 Immune Response / Th2 Signaling
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen diseaseMOIClassificationdismech entry
hypoparathyroidism-deafness-renal disease syndrome MONDO:0007797 AD Definitive
2019-06-18

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.