GATA2
Endothelial transcription factor GATA-2
Also known as: GATA2_HUMAN, NFE1B
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P23769
- Gene
- GATA2
- Ensembl
- ENSG00000179348
- Chromosome
- 3
- Canonical length
- 480 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
Canonical amino-acid sequenceUniProt
480 residues, UniProt reviewed canonical sequence.
>P23769|GATA2
1 MEVAPEQPRW MAHPAVLNAQ HPDSHHPGLA HNYMEPAQLL PPDEVDVFFN HLDSQGNPYY
61 ANPAHARARV SYSPAHARLT GGQMCRPHLL HSPGLPWLDG GKAALSAAAA HHHNPWTVSP
121 FSKTPLHPSA AGGPGGPLSV YPGAGGGSGG GSGSSVASLT PTAAHSGSHL FGFPPTPPKE
181 VSPDPSTTGA ASPASSSAGG SAARGEDKDG VKYQVSLTES MKMESGSPLR PGLATMGTQP
241 ATHHPIPTYP SYVPAAAHDY SSGLFHPGGF LGGPASSFTP KQRSKARSCS EGRECVNCGA
301 TATPLWRRDG TGHYLCNACG LYHKMNGQNR PLIKPKRRLS AARRAGTCCA NCQTTTTTLW
361 RRNANGDPVC NACGLYYKLH NVNRPLTMKK EGIQTRNRKM SNKSKKSKKG AECFEELSKC
421 MQEKSSPFSA AALAGHMAPV GHLPPFSHSG HILPTPTPIH PSSSLSFGHP HPSSMVTAMGLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GATA2 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)
- 0.67
- Highest tissue expression
- 59 nTPM
Expression across tissuesHPA
Tissue
- seminal vesicle: 59 nTPM
- fallopian tube: 52 nTPM
- prostate: 50 nTPM
- endometrium: 45 nTPM
- cervix: 37 nTPM
- urinary bladder: 33 nTPM
Single-cell type
- mast cells: 770 nCPM
- syncytiotrophoblasts: 368 nCPM
- extravillous trophoblasts: 356 nCPM
- prostatic club cells: 280 nCPM
- megakaryocyte progenitors: 268 nCPM
- endometrial luminal cells: 207 nCPM
Immune cell
- basophil: 567 nTPM
- total PBMC: 3.9 nTPM
- eosinophil: 1.5 nTPM
- neutrophil: 0.4 nTPM
- memory CD4 T-cell: 0.1 nTPM
- myeloid DC: 0.1 nTPM
Brain region
- midbrain: 38 nTPM
- thalamus: 25 nTPM
- medulla oblongata: 23 nTPM
- pons: 21 nTPM
- amygdala: 20 nTPM
- cerebral cortex: 16 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GATA2.
Disease | AllUniProt
Conditions GATA2 is implicated in, by any mechanism.
- Immunodeficiency 21 (IMD21) MIM:614172
- Lymphedema, primary, with myelodysplasia (LMPM) MIM:614038
- Myelodysplastic syndrome (MDS) MIM:614286
Disease | GeneticClinVar
230 pathogenic / likely-pathogenic of 1,845 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Deafness-lymphedema-leukemia syndrome
- GATA2 deficiency with susceptibility to MDS/AML
- Monocytopenia with susceptibility to infections
- Inborn genetic diseases
- Myelodysplastic syndrome
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)
- 0.29
- gnomAD pLI
- 0.98
- gnomAD missense Z
- 2.04
- DepMap mean gene effect
- 0.04
- 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
- brown fat cell differentiation
- cell differentiation in hindbrain
- cell fate commitment
- cell fate determination
- central nervous system neuron development
- cochlea development
- commitment of neuronal cell to specific neuron type in forebrain
- definitive hemopoiesis
- embryonic placenta development
- eosinophil fate commitment
- fat cell differentiation
- GABAergic neuron differentiation
- glandular epithelial cell maturation
- hematopoietic progenitor cell differentiation
- hematopoietic stem cell homeostasis
- homeostasis of number of cells within a tissue
- inner ear morphogenesis
- negative regulation of brown fat cell differentiation
- negative regulation of endothelial cell apoptotic process
- negative regulation of gene expression
- negative regulation of hematopoietic progenitor cell differentiation
- negative regulation of macrophage differentiation
- negative regulation of neural precursor cell proliferation
- negative regulation of neuroblast proliferation
- negative regulation of Notch signaling pathway
- negative regulation of transcription by RNA polymerase II
- neuroblast proliferation
- neuron maturation
- neuron migration
- phagocytosis
- positive regulation of angiogenesis
- positive regulation of blood vessel endothelial cell migration
- positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis
- positive regulation of cell migration involved in sprouting angiogenesis
- positive regulation of cytosolic calcium ion concentration
- positive regulation of erythrocyte differentiation
- positive regulation of gene expression
- positive regulation of mast cell degranulation
- positive regulation of megakaryocyte differentiation
- positive regulation of miRNA transcription
- positive regulation of neuron differentiation
- positive regulation of phagocytosis
- positive regulation of phagocytosis, engulfment
- positive regulation of transcription by RNA polymerase II
- regulation of primitive erythrocyte differentiation
- response to lipid
- somatic stem cell population maintenance
- thyroid-stimulating hormone-secreting cell differentiation
- transcription by RNA polymerase II
- urogenital system development
- vascular wound healing
- ventral spinal cord interneuron differentiation
- regulation of forebrain neuron differentiation
- semicircular canal development
Molecular functions
- C2H2 zinc finger domain binding
- chromatin binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- 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 coactivator binding
- transcription coregulator binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GATA2 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 GATA2 as an antibody target. Whether an autoantibody or antibody against GATA2 could matter depends on whether native GATA2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GATA2 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 GATA2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...