GATA3
Trans-acting T-cell-specific transcription factor GATA-3
Also known as: GATA3_HUMAN, HDR
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P23771
- Gene
- GATA3
- Ensembl
- ENSG00000107485
- Chromosome
- 10
- Canonical length
- 443 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
OverviewNCBI 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 this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009]
Canonical amino-acid sequenceUniProt
443 residues, UniProt reviewed canonical sequence.
>P23771|GATA3
1 MEVTADQPRW VSHHHPAVLN GQHPDTHHPG LSHSYMDAAQ YPLPEEVDVL FNIDGQGNHV
61 PPYYGNSVRA TVQRYPPTHH GSQVCRPPLL HGSLPWLDGG KALGSHHTAS PWNLSPFSKT
121 SIHHGSPGPL SVYPPASSSS LSGGHASPHL FTFPPTPPKD VSPDPSLSTP GSAGSARQDE
181 KECLKYQVPL PDSMKLESSH SRGSMTALGG ASSSTHHPIT TYPPYVPEYS SGLFPPSSLL
241 GGSPTGFGCK SRPKARSSTG RECVNCGATS TPLWRRDGTG HYLCNACGLY HKMNGQNRPL
301 IKPKRRLSAA RRAGTSCANC QTTTTTLWRR NANGDPVCNA CGLYYKLHNI NRPLTMKKEG
361 IQTRNRKMSS KSKKCKKVHD SLEDFPKNSS FNPAALSRHM SSLSHISPFS HSSHMLTTPT
421 PMHPPSSLSF GPHHPSSMVT AMGLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GATA3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.66
- Highest tissue expression
- 169 nTPM
Expression across tissuesHPA
Tissue
- skin: 169 nTPM
- parathyroid gland: 112 nTPM
- urinary bladder: 35 nTPM
- breast: 34 nTPM
- placenta: 32 nTPM
- kidney: 27 nTPM
Single-cell type
- syncytiotrophoblasts: 1,534 nCPM
- extravillous trophoblasts: 1,181 nCPM
- migrating cytotrophoblasts: 831 nCPM
- breast hormone-responsive cells: 488 nCPM
- urothelial cells: 465 nCPM
- renal collecting duct principal cells: 459 nCPM
Immune cell
- T-reg: 51 nTPM
- memory CD4 T-cell: 42 nTPM
- NK-cell: 40 nTPM
- memory CD8 T-cell: 34 nTPM
- MAIT T-cell: 33 nTPM
- gdT-cell: 25 nTPM
Brain region
- midbrain: 66 nTPM
- pons: 31 nTPM
- thalamus: 11 nTPM
- medulla oblongata: 9.6 nTPM
- amygdala: 2.5 nTPM
- choroid plexus: 2.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GATA3.
Disease | AllUniProt
Conditions GATA3 is implicated in, by any mechanism.
- Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) MIM:146255
Disease | GeneticClinVar
110 pathogenic / likely-pathogenic of 520 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hypoparathyroidism, deafness, renal disease syndrome
- GATA3-related disorder
- Familial cancer of breast
- Neoplasm
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.39
- gnomAD pLI
- 0.9
- gnomAD missense Z
- 1.91
- DepMap mean gene effect
- -0.12
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- anatomical structure formation involved in morphogenesis
- anatomical structure morphogenesis
- aortic valve morphogenesis
- axon guidance
- canonical Wnt signaling pathway
- cardiac right ventricle morphogenesis
- cartilage development
- cell fate commitment
- cell fate determination
- cell maturation
- cell population proliferation
- cellular response to BMP stimulus
- cellular response to interferon-alpha
- cellular response to interleukin-4
- cellular response to tumor necrosis factor
- chromatin remodeling
- cochlea development
- defense response
- developmental growth
- ear development
- embryonic hemopoiesis
- embryonic organ development
- erythrocyte differentiation
- humoral immune response
- immune system development
- in utero embryonic development
- inflammatory response
- innate immune response
- inner ear morphogenesis
- kidney development
- lens development in camera-type eye
- lymphocyte migration
- macrophage differentiation
- male gonad development
- mast cell differentiation
- mesenchymal to epithelial transition
- mesonephros development
- negative regulation of cell cycle
- negative regulation of cell motility
- negative regulation of cell population proliferation
- negative regulation of DNA-templated transcription
- negative regulation of endothelial cell apoptotic process
- negative regulation of epithelial to mesenchymal transition
- negative regulation of inflammatory response
- negative regulation of interleukin-2 production
- negative regulation of mammary gland epithelial cell proliferation
- negative regulation of transcription by RNA polymerase II
- negative regulation of type II interferon production
- nephric duct formation
- nephric duct morphogenesis
- neuron migration
- norepinephrine biosynthetic process
- otic vesicle development
- parathyroid gland development
- parathyroid hormone secretion
- pharyngeal system development
- phosphatidylinositol 3-kinase/protein kinase B signal transduction
- positive regulation of DNA-templated transcription
- positive regulation of endothelial cell migration
- positive regulation of interleukin-13 production
- positive regulation of interleukin-4 production
- positive regulation of interleukin-5 production
- positive regulation of miRNA transcription
- positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
- positive regulation of signal transduction
- positive regulation of T cell differentiation
- positive regulation of T-helper 2 cell cytokine production
- positive regulation of thyroid hormone generation
- positive regulation of transcription by RNA polymerase II
- positive regulation of transcription regulatory region DNA binding
- positive regulation of ureteric bud formation
- post-embryonic development
- pro-T cell differentiation
- regulation of cytokine production
- regulation of epithelial cell differentiation
- regulation of establishment of cell polarity
- regulation of nephron tubule epithelial cell differentiation
- regulation of neuron apoptotic process
- regulation of neuron projection development
- regulation of T-helper cell differentiation
- response to estrogen
- response to ethanol
- response to gamma radiation
- response to virus
- response to xenobiotic stimulus
- signal transduction
- sympathetic nervous system development
- T cell differentiation
- T cell receptor signaling pathway
- T-helper 2 cell differentiation
- thymic T cell selection
- thymus development
- TOR signaling
- transcription by RNA polymerase II
- ureter maturation
- ureter morphogenesis
- ureteric bud formation
- uterus development
- ventricular septum development
- negative regulation of cell proliferation involved in mesonephros development
- negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation
- negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation
- regulation of cellular response to X-ray
- type IV hypersensitivity
Molecular functions
- cis-regulatory region sequence-specific DNA binding
- DNA binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- E-box binding
- histone methyltransferase binding
- HMG box domain binding
- identical protein binding
- interleukin-2 receptor binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II-specific DNA-binding transcription factor binding
- sequence-specific double-stranded DNA binding
- transcription cis-regulatory region binding
- transcription coactivator binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GATA3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GATA3 as an antibody target. Whether an autoantibody or antibody against GATA3 could matter depends on whether native GATA3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GATA3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GATA3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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