Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2625
Gene name Gene Name - the full gene name approved by the HGNC.
GATA binding protein 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GATA3
Synonyms (NCBI Gene) Gene synonyms aliases
HDR, HDRS
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p14
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 assay, qRT-PCR 23354167
MIRT438911 hsa-miR-29b-3p Luciferase reporter assay, qRT-PCR 23354167
Transcription factors
Transcription factor Regulation Reference
GATA3 Unknown 20484083
MEN1 Unknown 20484083
MYB Unknown 20484083
NFKB1 Activation 20660789
RELA Activation 20660789
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
131320 4172 ENSG00000107485
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypoparathyroidism-deafness-renal disease syndrome Hypoparathyroidism, deafness, renal disease syndrome rs1588374920, rs387906621, rs878853222, rs2131511647, rs1085307641, rs104894163, rs2131501178, rs1564405163, rs104894164, rs1832680700, rs1588377948, rs771019738, rs1588378126, rs1832898282, rs387906551
View all (1 more)
N/A
Kidney Disease Stage 5 chronic kidney disease rs112417755 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma in any disease, Asthma, Nonatopic asthma, Asthma (adult onset), Asthma (moderate or severe) N/A N/A GWAS
Colorectal Cancer Colorectal cancer (diet interaction) N/A N/A GWAS
Dermatitis Atopic dermatitis N/A N/A GWAS
hearing impairment Hearing impairment N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Inhibit 37035756
Abscess Associate 33159669
Acanthoma Associate 26595821
Achalasia Addisonianism Alacrimia syndrome Stimulate 37980558
ACTH Secreting Pituitary Adenoma Associate 30390035
Addison Disease Associate 24614117
Adenocarcinoma Associate 28102292, 28693610, 31222589, 33762601
Adenocarcinoma Clear Cell Associate 36320040
Adenocarcinoma Mucinous Inhibit 24504018
Adenocarcinoma Mucinous Associate 35405716