Gene Gene information from NCBI Gene database.
Entrez ID 2625
Gene name GATA binding protein 3
Gene symbol GATA3
Synonyms (NCBI Gene)
HDRHDRS
Chromosome 10
Chromosome location 10p14
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
SNPs SNP information provided by dbSNP.
13
SNP ID Visualize variation Clinical significance Consequence
rs104894162 C>T Pathogenic Stop gained, coding sequence variant
rs104894163 T>A Pathogenic Missense variant, coding sequence variant
rs104894164 C>T Pathogenic Stop gained, coding sequence variant
rs104894165 A>G,T Pathogenic Missense variant, coding sequence variant, synonymous variant
rs112417755 G>C,T Pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
522
miRTarBase ID miRNA Experiments Reference
MIRT021783 hsa-miR-132-3p Microarray 17612493
MIRT024016 hsa-miR-1-3p Microarray 18668037
MIRT049754 hsa-miR-92a-3p CLASH 23622248
MIRT438911 hsa-miR-29b-3p Luciferase reporter assayqRT-PCR 23354167
MIRT438911 hsa-miR-29b-3p Luciferase reporter assayqRT-PCR 23354167
Transcription factors Transcription factors information provided by TRRUST V2 database.
9
Transcription factor Regulation Reference
GATA3 Unknown 20484083
MEN1 Unknown 20484083
MYB Unknown 20484083
NFKB1 Activation 20660789
RELA Activation 20660789
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
214
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin IDA 20855495
GO:0000785 Component Chromatin ISA
GO:0000902 Process Cell morphogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
131320 4172 ENSG00000107485
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P23771
Protein name Trans-acting T-cell-specific transcription factor GATA-3 (GATA-binding factor 3)
Protein function Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes. Binds to the consensus sequence 5'-AGATAG-3'. Required for the T-helper 2 (Th2) differentiation process following immune and inflammatory respons
PDB 4HC7 , 4HC9 , 4HCA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00320 GATA 263 297 GATA zinc finger Domain
PF00320 GATA 317 351 GATA zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: T-cells and endothelial cells.
Sequence
MEVTADQPRWVSHHHPAVLNGQHPDTHHPGLSHSYMDAAQYPLPEEVDVLFNIDGQGNHV
PPYYGNSVRATVQRYPPTHHGSQVCRPPLLHGSLPWLDGGKALGSHHTASPWNLSPFSKT
SIHHGSPGPLSVYPPASSSSLSGGHASPHLFTFPPTPPKDVSPDPSLSTPGSAGSARQDE
KECLKYQVPLPDSMKLESSHSRGSMTALGGASSSTHHPITTYPPYVPEYSSGLFPPSSLL
GGSPTGFGCKSRPKARSSTGRECVNCGATSTPLWRRDGTGHYLCNACGLYHKMNGQNRPL
IKPKRRLSAARRAGTSCANCQTTTTTLWRRNANGDPVCNACGLYYKLHNINRPLTMKKEG
IQTRNRKMSSKSKKCKKVHDSLEDFPKNSSFNPAALSRHMSSLSHISPFSHSSHMLTTPT
PMHPPSSLSFGPHHPSSMVTAMG
Sequence length 443
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Th1 and Th2 cell differentiation
Th17 cell differentiation
Parathyroid hormone synthesis, secretion and action
Inflammatory bowel disease
  Ub-specific processing proteases
Interleukin-4 and Interleukin-13 signaling
RUNX1 regulates transcription of genes involved in differentiation of HSCs
Estrogen-dependent gene expression
Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
44
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital anomaly of kidney and urinary tract Likely pathogenic rs1832899364 RCV001328306
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness, autosomal dominant Pathogenic rs2491461355 RCV003155569
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast Pathogenic rs763236375, rs112417755 RCV005869746
RCV005899790
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GATA3-related disorder Pathogenic; Likely pathogenic rs772396478, rs2491461857, rs112417755, rs1588377948 RCV004731212
RCV003982547
RCV004730959
RCV003892163
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 28551327
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 27684731, 28415601, 28566565, 29434778, 30859636, 31519704
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 27338760, 28461097, 28693610, 29851704, 30059453
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 24743840
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27568346, 28322854, 29299165, 29453984, 30093726, 30628926
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 24578300, 28316088
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 28374498
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 28374498
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 27684731, 28415601
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 15632006, 18430472, 20660789, 21037568, 26473286, 28877074
★☆☆☆☆
Found in Text Mining only