• Gene id: 2624

Gene Summary

• Gene Symbol: GATA2   Gene   UCSC   Ensembl
• Aliases: DCML, IMD21, MONOMAC, NFE1B
• Gene name: GATA binding protein 2
• Alternate names: endothelial transcription factor GATA-2,
• Gene location: 3q21.3 (128493200: 128479421)     Exons: 8     NC_000003.12
• Gene summary(Entrez): 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 transcript
• OMIM: 155730

Protein Summary

• Protein general information: P23769  
  • Name: Endothelial transcription factor GATA 2 (GATA binding protein 2)
  • Length: 480  
  • Mass: 50500
  • Tissue specificity: Endothelial cells.
• Sequence:

  MEVAPEQPRWMAHPAVLNAQHPDSHHPGLAHNYMEPAQLLPPDEVDVFFNHLDSQGNPYYANPAHARARVSYSPA
  HARLTGGQMCRPHLLHSPGLPWLDGGKAALSAAAAHHHNPWTVSPFSKTPLHPSAAGGPGGPLSVYPGAGGGSGG
  GSGSSVASLTPTAAHSGSHLFGFPPTPPKEVSPDPSTTGAASPASSSAGGSAARGEDKDGVKYQVSLTESMKMES
  GSPLRPGLATMGTQPATHHPIPTYPSYVPAAAHDYSSGLFHPGGFLGGPASSFTPKQRSKARSCSEGRECVNCGA
  TATPLWRRDGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTCCANCQTTTTTLWRRNANGDPVCNACGL
  YYKLHNVNRPLTMKKEGIQTRNRKMSNKSKKSKKGAECFEELSKCMQEKSSPFSAAALAGHMAPVGHLPPFSHSG
  HILPTPTPIHPSSSLSFGHPHPSSMVTAMG

• Structural information:
  • Interpro: IPR029522  IPR016374  IPR039355  IPR000679  IPR013088  
  • Prosite: PS00344 PS50114
  • CDD: cd00202
  • PDB: 5O9B
  • PDBsum: 5O9B
  • DIP: 29711
  • STRING: ENSP00000345681
• Other Databases: GeneCards:  GATA2  Malacards:  GATA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:1902895	positive regulation of pri-miRNA transcription by RNA polymerase II	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0045766	positive regulation of angiogenesis	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0045165	cell fate commitment	IBA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0030097	hemopoiesis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006909	phagocytosis	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:2000178	negative regulation of neural precursor cell proliferation	IDA	biological process
GO:0045746	negative regulation of Notch signaling pathway	IDA	biological process
GO:0003682	chromatin binding	IDA	molecular function
GO:0045766	positive regulation of angiogenesis	IDA	biological process
GO:0000987	cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:1902036	regulation of hematopoietic stem cell differentiation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000977	regulation of forebrain neuron differentiation	IEA	biological process
GO:2000178	negative regulation of neural precursor cell proliferation	IEA	biological process
GO:0097154	GABAergic neuron differentiation	IEA	biological process
GO:0060216	definitive hemopoiesis	IEA	biological process
GO:0048873	homeostasis of number of cells within a tissue	IEA	biological process
GO:0045650	negative regulation of macrophage differentiation	IEA	biological process
GO:0045648	positive regulation of erythrocyte differentiation	IEA	biological process
GO:0045599	negative regulation of fat cell differentiation	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0035065	regulation of histone acetylation	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0021983	pituitary gland development	IEA	biological process
GO:0021533	cell differentiation in hindbrain	IEA	biological process
GO:0010725	regulation of primitive erythrocyte differentiation	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0001709	cell fate determination	IEA	biological process
GO:0001655	urogenital system development	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043306	positive regulation of mast cell degranulation	IEA	biological process
GO:0033993	response to lipid	IEA	biological process
GO:0001764	neuron migration	IEA	biological process
GO:0060872	semicircular canal development	IEA	biological process
GO:0048663	neuron fate commitment	IEA	biological process
GO:0048469	cell maturation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045766	positive regulation of angiogenesis	IEA	biological process
GO:0045654	positive regulation of megakaryocyte differentiation	IEA	biological process
GO:0045638	negative regulation of myeloid cell differentiation	IEA	biological process
GO:0035019	somatic stem cell population maintenance	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0021954	central nervous system neuron development	IEA	biological process
GO:0021902	commitment of neuronal cell to specific neuron type in forebrain	IEA	biological process
GO:0021514	ventral spinal cord interneuron differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001892	embryonic placenta development	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0090102	cochlea development	IEA	biological process
GO:0060100	positive regulation of phagocytosis, engulfment	IEA	biological process
GO:0050766	positive regulation of phagocytosis	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0061042	vascular wound healing	IMP	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0070742	C2H2 zinc finger domain binding	IPI	molecular function
GO:0035854	eosinophil fate commitment	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0043536	positive regulation of blood vessel endothelial cell migration	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0090050	positive regulation of cell migration involved in sprouting angiogenesis	IMP	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:1902895	positive regulation of pri-miRNA transcription by RNA polymerase II	IDA	biological process
GO:2000352	negative regulation of endothelial cell apoptotic process	IMP	biological process
GO:1903589	positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IMP	biological process
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:1902895	positive regulation of pri-miRNA transcription by RNA polymerase II	IGI	biological process
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0070345	negative regulation of fat cell proliferation	IMP	biological process
GO:0045599	negative regulation of fat cell differentiation	IMP	biological process
GO:0050766	positive regulation of phagocytosis	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Myelodysplastic syndrome	KEGG:H01481
Myelodysplastic syndrome	KEGG:H01481
Myelodysplastic syndrome	PMID:12145700
aplastic anemia	PMID:11328281
Mental depression	PMID:25340772
Primary immunodeficiency disease	PMID:21670465
myeloid leukemia	PMID:19304323
acute myeloid leukemia	PMID:24514424
acute myeloid leukemia	PMID:22786876
acute myeloid leukemia	PMID:25241285
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray