HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GATA3
GATA binding protein 3
Chromosome 10 Β· 10p14
NCBI Gene: 2625Ensembl: ENSG00000107485.19HGNC: HGNC:4172UniProt: P23771
515PubMed Papers
21Diseases
0Drugs
109Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of inflammatory responsepositive regulation of DNA-templated transcriptionpositive regulation of endothelial cell migrationnegative regulation of DNA-templated transcriptionhypoparathyroidism-deafness-renal disease syndromeHypoparathyroidism - deafness - renal diseaseB-cell acute lymphoblastic leukemiabreast adenocarcinoma
✦AI Summary

GATA3 is a zinc-finger pioneer transcription factor that regulates gene expression by binding to nucleosomal DNA and facilitating chr10 remodeling 1. As a transcriptional activator, GATA3 binds consensus sequences (5'-AGATAG-3') in T-cell receptor enhancers and is essential for Th2 cell differentiation during immune responses 2. Beyond immunity, GATA3 regulates filaggrin expression in keratinocytes, supporting epidermal barrier integrity, particularly under inflammatory conditions like atopic dermatitis 3. GATA3 also supports intestinal regulatory T cell function through epigenetic mechanisms involving H3K36 methylation 4. Clinically, GATA3 mutations cause Barakat (HDR) syndrome, characterized by hypoparathyroidism, sensorineural deafness, and renal disease, resulting from GATA3 haploinsufficiency 5 6. In cancer, GATA3 expression marks luminal breast cancer subtypes and mediates doxorubicin resistance by suppressing ferroptosis-related genes like CYB5R2, thereby reducing chemotherapy efficacy 7. GATA3 is also implicated in multiple malignancies including bladder and squamous cell carcinomas 1, and GATA3 polymorphisms associate with childhood acute lymphoblastic leukemia susceptibility in Chinese populations 8.

Sources cited
1
GATA3 is a zinc-finger pioneer transcription factor involved in chromatin remodeling and cell differentiation; mutations linked to breast, bladder cancer, and other malignancies
PMID: 37726118
2
GATA3 gene structure and its abundant expression in T-lymphocyte lineage; role in T-cell receptor gene activation
PMID: 8088776
3
GATA3 regulates filaggrin and filaggrin-2 expression in keratinocytes and maintains epidermal barrier integrity in atopic dermatitis
PMID: 28928464
4
Setd2-supported GATA3 expression regulates intestinal regulatory T cell function through H3K36 methylation
PMID: 36463230
5
GATA3 haploinsufficiency causes HDR syndrome with hypoparathyroidism, sensorineural deafness, and renal anomalies
PMID: 11577985
6
Barakat syndrome diagnosis and GATA3 mutations as causative defect; 64.4% of patients present with full HDR triad
PMID: 29663634
7
GATA3 mediates doxorubicin resistance in luminal breast cancer by inhibiting CYB5R2-catalyzed ferroptosis
PMID: 37230023
8
GATA3 rs3824662 polymorphism associated with increased childhood acute lymphoblastic leukemia susceptibility in Chinese population
PMID: 36952466
Disease Associationsβ“˜21
hypoparathyroidism-deafness-renal disease syndromeOpen Targets
0.82Strong
Hypoparathyroidism - deafness - renal diseaseOpen Targets
0.79Strong
B-cell acute lymphoblastic leukemiaOpen Targets
0.57Moderate
breast adenocarcinomaOpen Targets
0.57Moderate
asthmaOpen Targets
0.56Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
rheumatoid arthritisOpen Targets
0.53Moderate
Hodgkins lymphomaOpen Targets
0.50Moderate
Nasal Cavity PolypOpen Targets
0.50Moderate
genetic disorderOpen Targets
0.45Moderate
adult onset asthmaOpen Targets
0.45Moderate
breast carcinomaOpen Targets
0.44Moderate
congenital anomaly of kidney and urinary tractOpen Targets
0.43Moderate
allergic diseaseOpen Targets
0.43Moderate
lower respiratory tract diseaseOpen Targets
0.42Moderate
respiratory system diseaseOpen Targets
0.42Moderate
multiple sclerosisOpen Targets
0.42Moderate
chronic rhinosinusitisOpen Targets
0.42Moderate
acute lymphoblastic leukemiaOpen Targets
0.41Moderate
Abnormal thrombosisOpen Targets
0.40Weak
Hypoparathyroidism, sensorineural deafness, and renal diseaseUniProt
Pathogenic Variants109
NM_001002295.2(GATA3):c.896G>A (p.Arg299Gln)Pathogenic
not provided|Hypoparathyroidism, deafness, renal disease syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 299
NM_001002295.2(GATA3):c.708del (p.Ser237fs)Pathogenic
Hypoparathyroidism, deafness, renal disease syndrome|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 237
NM_001002295.2(GATA3):c.404dup (p.Ala136fs)Pathogenic
Hypoparathyroidism, deafness, renal disease syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 136
NM_001002295.2(GATA3):c.916C>T (p.Arg306Ter)Pathogenic
not provided|Hypoparathyroidism, deafness, renal disease syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 306
NM_001002295.2(GATA3):c.708dup (p.Ser237fs)Pathogenic
Hypoparathyroidism, deafness, renal disease syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 237
NM_001002295.2(GATA3):c.404del (p.Pro135fs)Pathogenic
not provided|Hypoparathyroidism, deafness, renal disease syndrome|GATA3-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 135
NM_001002295.2(GATA3):c.925-3_925-2delPathogenic
Hypoparathyroidism, deafness, renal disease syndrome|Familial cancer of breast|Neoplasm|not provided
β˜…β˜…β˜†β˜†2025
NM_001002295.2(GATA3):c.431dup (p.His145fs)Pathogenic
Hypoparathyroidism, deafness, renal disease syndrome|not provided|GATA3-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 145
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter)Pathogenic
Hypoparathyroidism, deafness, renal disease syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 367
NM_001002295.2(GATA3):c.1201_1202del (p.Met401fs)Pathogenic
not provided|Hypoparathyroidism, deafness, renal disease syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 401
NM_001002295.2(GATA3):c.431del (p.Gly144fs)Pathogenic
Hypoparathyroidism, deafness, renal disease syndrome|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 144
NM_001002295.2(GATA3):c.895C>T (p.Arg299Trp)Likely pathogenic
not provided|Inborn genetic diseases|Neoplasm
β˜…β˜…β˜†β˜†2023β†’ Residue 299
NM_001002295.2(GATA3):c.1050+2T>CPathogenic
not provided|Hypoparathyroidism, deafness, renal disease syndrome
β˜…β˜…β˜†β˜†2023
NM_001002295.2(GATA3):c.924+1G>APathogenic
Hypoparathyroidism, deafness, renal disease syndrome|not provided
β˜…β˜…β˜†β˜†2022
NM_001002295.2(GATA3):c.335G>A (p.Trp112Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 112
NM_001002295.2(GATA3):c.399C>G (p.Tyr133Ter)Pathogenic
Hypoparathyroidism, deafness, renal disease syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 133
NM_001002295.2(GATA3):c.1033T>C (p.Tyr345His)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 345
NM_001002295.2(GATA3):c.444del (p.His149fs)Likely pathogenic
Hypoparathyroidism, deafness, renal disease syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 149
NM_001002295.2(GATA3):c.515C>A (p.Ser172Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 172
NM_001002295.2(GATA3):c.675C>A (p.Tyr225Ter)Pathogenic
Hypoparathyroidism, deafness, renal disease syndrome|Monogenic hearing loss
β˜…β˜†β˜†β˜†2025β†’ Residue 225
View on ClinVar β†—
Related Genes
LDB1Protein interaction100%HDAC2Protein interaction100%MTA3Protein interaction100%RUNX1Protein interaction100%ETS1Protein interaction100%PBX1Protein interaction100%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
55%
Heart
31%
Liver
24%
Ovary
3%
Brain
1%
Gene Interaction Network
Click a node to explore
GATA3LDB1HDAC2MTA3RUNX1ETS1PBX1
PROTEIN STRUCTURE
Preparing viewer…
PDB4HC9 Β· 1.60 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.38Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.19 [0.10–0.38]
RankingsWhere GATA3 stands among ~20K protein-coding genes
  • #510of 20,598
    Most Researched515 Β· top 5%
  • #715of 5,498
    Most Pathogenic Variants109 Β· top quartile
  • #1,776of 17,882
    Most Constrained (LOEUF)0.38 Β· top 10%
Genes detectedGATA3
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Gene of the month: GATA3.
PMID: 37726118
J Clin Pathol Β· 2023
1.00
2
GATA3 mediates doxorubicin resistance by inhibiting CYB5R2-catalyzed iron reduction in breast cancer cells.
PMID: 37230023
Drug Resist Updat Β· 2023
0.90
3
Barakat syndrome revisited.
PMID: 29663634
Am J Med Genet A Β· 2018
0.80
4
Endosalpingiosis Is Negative for GATA3.
PMID: 33571371
Arch Pathol Lab Med Β· 2021
0.72
5
Aging and GATA3-positive macrophages.
PMID: 31017875
Aging (Albany NY) Β· 2019
0.70