Endometriosis Knowledgebase

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Gene id

2624

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (128493186: 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 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]

OMIM

137295

Protein Summary

Protein general information

P23769

Name: Endothelial transcription factor GATA 2 (GATA binding protein 2)

Length: 480 Mass: 50,500

Tissue specificity: Endothelial cells.

Sequence

MEVAPEQPRWMAHPAVLNAQHPDSHHPGLAHNYMEPAQLLPPDEVDVFFNHLDSQGNPYYANPAHARARVSYSPA
HARLTGGQMCRPHLLHSPGLPWLDGGKAALSAAAAHHHNPWTVSPFSKTPLHPSAAGGPGGPLSVYPGAGGGSGG
GSGSSVASLTPTAAHSGSHLFGFPPTPPKEVSPDPSTTGAASPASSSAGGSAARGEDKDGVKYQVSLTESMKMES
GSPLRPGLATMGTQPATHHPIPTYPSYVPAAAHDYSSGLFHPGGFLGGPASSFTPKQRSKARSCSEGRECVNCGA
TATPLWRRDGTGHYLCNACGLYHKMNGQNRPLIKPKRRLSAARRAGTCCANCQTTTTTLWRRNANGDPVCNACGL
YYKLHNVNRPLTMKKEGIQTRNRKMSNKSKKSKKGAECFEELSKCMQEKSSPFSAAALAGHMAPVGHLPPFSHSG
HILPTPTPIHPSSSLSFGHPHPSSMVTAMG

Structural information

Interpro:	IPR029522 IPR016374 IPR000679 IPR013088
Prosite:	PS00344 PS50114
Pfam:	PF00320
DIP:	29711
STRING:	ENSP00000345681;

Other Databases

GeneCards: GATA2; Malacards: GATA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000977	RNA polymerase II regulat ory region sequence-speci fic DNA binding	IBA	molecular_function
GO:0000979	RNA polymerase II core pr omoter sequence-specific DNA binding	IEA	molecular_function
GO:0000980	RNA polymerase II distal enhancer sequence-specifi c DNA binding	IEA	molecular_function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IEA	molecular_function
GO:0001085	RNA polymerase II transcr iption factor binding	IBA	molecular_function
GO:0001158	enhancer sequence-specifi c DNA binding	IDA	molecular_function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IBA	molecular_function
GO:0001655	urogenital system develop ment	IEA	biological_process
GO:0001709	cell fate determination	IEA	biological_process
GO:0001764	neuron migration	IEA	biological_process
GO:0001892	embryonic placenta develo pment	IEA	biological_process
GO:0003682	chromatin binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	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:0005634	nucleus	IBA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005667	transcription factor comp lex	IBA	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0006351	transcription, DNA-templa ted	IDA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0006909	phagocytosis	IEA	biological_process
GO:0007204	positive regulation of cy tosolic calcium ion conce ntration	IEA	biological_process
GO:0007507	heart development	IBA	biological_process
GO:0007596	blood coagulation	TAS	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0008270	zinc ion binding	IEA	molecular_function
GO:0009887	animal organ morphogenesi s	IBA	biological_process
GO:0009888	tissue development	IBA	biological_process
GO:0010725	regulation of primitive e rythrocyte differentiatio n	IEA	biological_process
GO:0021514	ventral spinal cord inter neuron differentiation	IEA	biological_process
GO:0021533	cell differentiation in h indbrain	IEA	biological_process
GO:0021902	commitment of neuronal ce ll to specific neuron typ e in forebrain	IEA	biological_process
GO:0021954	central nervous system ne uron development	IEA	biological_process
GO:0021983	pituitary gland developme nt	IEA	biological_process
GO:0033993	response to lipid	IEA	biological_process
GO:0035019	somatic stem cell populat ion maintenance	IEA	biological_process
GO:0035065	regulation of histone ace tylation	IEA	biological_process
GO:0035854	eosinophil fate commitmen t	IDA	biological_process
GO:0042472	inner ear morphogenesis	IEA	biological_process
GO:0042629	mast cell granule	IEA	cellular_component
GO:0043303	mast cell degranulation	IEA	biological_process
GO:0045599	negative regulation of fa t cell differentiation	IMP	biological_process
GO:0045648	positive regulation of er ythrocyte differentiation	IEA	biological_process
GO:0045650	negative regulation of ma crophage differentiation	IEA	biological_process
GO:0045654	positive regulation of me gakaryocyte differentiati on	IEA	biological_process
GO:0045666	positive regulation of ne uron differentiation	IEA	biological_process
GO:0045746	negative regulation of No tch signaling pathway	IDA	biological_process
GO:0045766	positive regulation of an giogenesis	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IGI	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0048469	cell maturation	IEA	biological_process
GO:0048565	digestive tract developme nt	IBA	biological_process
GO:0048873	homeostasis of number of cells within a tissue	IEA	biological_process
GO:0050766	positive regulation of ph agocytosis	ISS	biological_process
GO:0060100	positive regulation of ph agocytosis, engulfment	IEA	biological_process
GO:0060216	definitive hemopoiesis	IEA	biological_process
GO:0060872	semicircular canal develo pment	IEA	biological_process
GO:0070345	negative regulation of fa t cell proliferation	IMP	biological_process
GO:0070742	C2H2 zinc finger domain b inding	IPI	molecular_function
GO:0097154	GABAergic neuron differen tiation	IEA	biological_process
GO:2000178	negative regulation of ne ural precursor cell proli feration	IDA	biological_process
GO:2000977	regulation of forebrain n euron differentiation	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000977	RNA polymerase II regulat ory region sequence-speci fic DNA binding	IBA	molecular_function
GO:0000979	RNA polymerase II core pr omoter sequence-specific DNA binding	IEA	molecular_function
GO:0000980	RNA polymerase II distal enhancer sequence-specifi c DNA binding	IEA	molecular_function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IEA	molecular_function
GO:0001085	RNA polymerase II transcr iption factor binding	IBA	molecular_function
GO:0001158	enhancer sequence-specifi c DNA binding	IDA	molecular_function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IBA	molecular_function
GO:0001655	urogenital system develop ment	IEA	biological_process
GO:0001709	cell fate determination	IEA	biological_process
GO:0001764	neuron migration	IEA	biological_process
GO:0001892	embryonic placenta develo pment	IEA	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003682	chromatin binding	IEA	molecular_function
GO:0003682	chromatin binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	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:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IBA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005667	transcription factor comp lex	IBA	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006351	transcription, DNA-templa ted	IDA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0006909	phagocytosis	IEA	biological_process
GO:0007204	positive regulation of cy tosolic calcium ion conce ntration	IEA	biological_process
GO:0007507	heart development	IBA	biological_process
GO:0007596	blood coagulation	TAS	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0008270	zinc ion binding	IEA	molecular_function
GO:0009887	animal organ morphogenesi s	IBA	biological_process
GO:0009888	tissue development	IBA	biological_process
GO:0010725	regulation of primitive e rythrocyte differentiatio n	IEA	biological_process
GO:0021514	ventral spinal cord inter neuron differentiation	IEA	biological_process
GO:0021533	cell differentiation in h indbrain	IEA	biological_process
GO:0021902	commitment of neuronal ce ll to specific neuron typ e in forebrain	IEA	biological_process
GO:0021954	central nervous system ne uron development	IEA	biological_process
GO:0021983	pituitary gland developme nt	IEA	biological_process
GO:0030097	hemopoiesis	IEA	biological_process
GO:0030154	cell differentiation	IEA	biological_process
GO:0030182	neuron differentiation	IEA	biological_process
GO:0033993	response to lipid	IEA	biological_process
GO:0035019	somatic stem cell populat ion maintenance	IEA	biological_process
GO:0035065	regulation of histone ace tylation	IEA	biological_process
GO:0035854	eosinophil fate commitmen t	IDA	biological_process
GO:0042472	inner ear morphogenesis	IEA	biological_process
GO:0042629	mast cell granule	IEA	cellular_component
GO:0043234	protein complex	IEA	cellular_component
GO:0043303	mast cell degranulation	IEA	biological_process
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0045599	negative regulation of fa t cell differentiation	IEA	biological_process
GO:0045599	negative regulation of fa t cell differentiation	IMP	biological_process
GO:0045638	negative regulation of my eloid cell differentiatio n	IEA	biological_process
GO:0045648	positive regulation of er ythrocyte differentiation	IEA	biological_process
GO:0045650	negative regulation of ma crophage differentiation	IEA	biological_process
GO:0045654	positive regulation of me gakaryocyte differentiati on	IEA	biological_process
GO:0045666	positive regulation of ne uron differentiation	IEA	biological_process
GO:0045746	negative regulation of No tch signaling pathway	IDA	biological_process
GO:0045766	positive regulation of an giogenesis	IEA	biological_process
GO:0045766	positive regulation of an giogenesis	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IGI	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0048469	cell maturation	IEA	biological_process
GO:0048565	digestive tract developme nt	IBA	biological_process
GO:0048663	neuron fate commitment	IEA	biological_process
GO:0048873	homeostasis of number of cells within a tissue	IEA	biological_process
GO:0050766	positive regulation of ph agocytosis	IEA	biological_process
GO:0050766	positive regulation of ph agocytosis	ISS	biological_process
GO:0060100	positive regulation of ph agocytosis, engulfment	IEA	biological_process
GO:0060216	definitive hemopoiesis	IEA	biological_process
GO:0060872	semicircular canal develo pment	IEA	biological_process
GO:0070345	negative regulation of fa t cell proliferation	IMP	biological_process
GO:0070742	C2H2 zinc finger domain b inding	IPI	molecular_function
GO:0097154	GABAergic neuron differen tiation	IEA	biological_process
GO:2000178	negative regulation of ne ural precursor cell proli feration	IEA	biological_process
GO:2000178	negative regulation of ne ural precursor cell proli feration	IDA	biological_process
GO:2000977	regulation of forebrain n euron differentiation	IEA	biological_process
GO:0000977	RNA polymerase II regulat ory region sequence-speci fic DNA binding	IBA	molecular_function
GO:0001085	RNA polymerase II transcr iption factor binding	IBA	molecular_function
GO:0001158	enhancer sequence-specifi c DNA binding	IDA	molecular_function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IBA	molecular_function
GO:0003682	chromatin binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	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:0005634	nucleus	IBA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005667	transcription factor comp lex	IBA	cellular_component
GO:0006351	transcription, DNA-templa ted	IDA	biological_process
GO:0007507	heart development	IBA	biological_process
GO:0007596	blood coagulation	TAS	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0009887	animal organ morphogenesi s	IBA	biological_process
GO:0009888	tissue development	IBA	biological_process
GO:0035854	eosinophil fate commitmen t	IDA	biological_process
GO:0045599	negative regulation of fa t cell differentiation	IMP	biological_process
GO:0045746	negative regulation of No tch signaling pathway	IDA	biological_process
GO:0045766	positive regulation of an giogenesis	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IGI	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0048565	digestive tract developme nt	IBA	biological_process
GO:0050766	positive regulation of ph agocytosis	ISS	biological_process
GO:0070345	negative regulation of fa t cell proliferation	IMP	biological_process
GO:0070742	C2H2 zinc finger domain b inding	IPI	molecular_function
GO:2000178	negative regulation of ne ural precursor cell proli feration	IDA	biological_process

Diseases

Associated diseases	References
Cancer	PMID: 19304323
Coronary artery disease	PMID: 19706030
Endometriosis	PMID: 24603652
Female infertility	PMID: 22999554
Myelodysplastic syndrome	KEGG: H01481
Nasal polyposis	PMID: 19860791
Parkinson's disease	PMID: 19864173
Endometriosis	INFBASE24603652

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
24603652	Endometrio sis				Female infertility	GATA2 GATA6	Show abstract