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Gene id

2627

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

GATA6 Gene UCSC Ensembl

Gene name

GATA binding protein 6

Alternate names

transcription factor GATA-6, GATA-binding factor 6,

Gene location

18q11.2 (22169436: 22202527) Exons: 7 NC_000018.10

Gene summary(Entrez)

This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects. [provided by RefSeq, Mar 2012]

OMIM

601656

Protein Summary

Protein general information

Q92908

Name: Transcription factor GATA 6 (GATA binding factor 6)

Length: 595 Mass: 60,033

Tissue specificity: Expressed in heart, gut and gut-derived tissues.

Sequence

MALTDGGWCLPKRFGAAGADASDSRAFPAREPSTPPSPISSSSSSCSRGGERGPGGASNCGTPQLDTEAAAGPPA
RSLLLSSYASHPFGAPHGPSAPGVAGPGGNLSSWEDLLLFTDLDQAATASKLLWSSRGAKLSPFAPEQPEEMYQT
LAALSSQGPAAYDGAPGGFVHSAAAAAAAAAAASSPVYVPTTRVGSMLPGLPYHLQGSGSGPANHAGGAGAHPGW
PQASADSPPYGSGGGAAGGGAAGPGGAGSAAAHVSARFPYSPSPPMANGAAREPGGYAAAGSGGAGGVSGGGSSL
AAMGGREPQYSSLSAARPLNGTYHHHHHHHHHHPSPYSPYVGAPLTPAWPAGPFETPVLHSLQSRAGAPLPVPRG
PSADLLEDLSESRECVNCGSIQTPLWRRDGTGHYLCNACGLYSKMNGLSRPLIKPQKRVPSSRRLGLSCANCHTT
TTTLWRRNAEGEPVCNACGLYMKLHGVPRPLAMKKEGIQTRKRKPKNINKSKTCSGNSNNSIPMTPTSTSSNSDD
CSKNTSPTTQPTASGAGAPVMTGAGESTNPENSELKYSGQDGLYIGVSLASPAEVTSSVRPDSWCALALA

Structural information

Interpro:	IPR008013 IPR028437 IPR000679 IPR013088
Prosite:	PS00344 PS50114
Pfam:	PF00320 PF05349
MINT:	3379576
STRING:	ENSP00000269216;

Other Databases

GeneCards: GATA6; Malacards: GATA6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	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:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	IMP	molecular_function
GO:0001085	RNA polymerase II transcr iption factor binding	IBA	molecular_function
GO:0001103	RNA polymerase II repress ing transcription factor binding	IEA	molecular_function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IBA	molecular_function
GO:0001701	in utero embryonic develo pment	IEA	biological_process
GO:0001889	liver development	IEA	biological_process
GO:0003148	outflow tract septum morp hogenesis	IMP	biological_process
GO:0003309	type B pancreatic cell di fferentiation	IEA	biological_process
GO:0003310	pancreatic A cell differe ntiation	IEA	biological_process
GO:0003682	chromatin binding	IBA	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:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	IEA	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	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005667	transcription factor comp lex	IBA	cellular_component
GO:0006366	transcription from RNA po lymerase II promoter	IDA	biological_process
GO:0006644	phospholipid metabolic pr ocess	IEA	biological_process
GO:0007493	endodermal cell fate dete rmination	IEA	biological_process
GO:0007596	blood coagulation	TAS	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0008270	zinc ion binding	IEA	molecular_function
GO:0008584	male gonad development	IEP	biological_process
GO:0014898	cardiac muscle hypertroph y in response to stress	IEA	biological_process
GO:0019901	protein kinase binding	IPI	molecular_function
GO:0030513	positive regulation of BM P signaling pathway	IBA	biological_process
GO:0032911	negative regulation of tr ansforming growth factor beta1 production	IMP	biological_process
GO:0032912	negative regulation of tr ansforming growth factor beta2 production	IMP	biological_process
GO:0035239	tube morphogenesis	IEA	biological_process
GO:0042493	response to drug	IMP	biological_process
GO:0043066	negative regulation of ap optotic process	IMP	biological_process
GO:0043627	response to estrogen	IEA	biological_process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044267	cellular protein metaboli c process	TAS	biological_process
GO:0045165	cell fate commitment	IBA	biological_process
GO:0045766	positive regulation of an giogenesis	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	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	IDA	biological_process
GO:0048468	cell development	IBA	biological_process
GO:0048645	animal organ formation	IEA	biological_process
GO:0051145	smooth muscle cell differ entiation	IMP	biological_process
GO:0051891	positive regulation of ca rdioblast differentiation	IEA	biological_process
GO:0055007	cardiac muscle cell diffe rentiation	IEA	biological_process
GO:0060045	positive regulation of ca rdiac muscle cell prolife ration	IEA	biological_process
GO:0060430	lung saccule development	IEA	biological_process
GO:0060486	Clara cell differentiatio n	IEA	biological_process
GO:0060510	Type II pneumocyte differ entiation	IEA	biological_process
GO:0060575	intestinal epithelial cel l differentiation	IDA	biological_process
GO:0060947	cardiac vascular smooth m uscle cell differentiatio n	IMP	biological_process
GO:0060947	cardiac vascular smooth m uscle cell differentiatio n	IMP	biological_process
GO:0070848	response to growth factor	IDA	biological_process
GO:0071158	positive regulation of ce ll cycle arrest	IDA	biological_process
GO:0071371	cellular response to gona dotropin stimulus	IEA	biological_process
GO:0071456	cellular response to hypo xia	IDA	biological_process
GO:0071773	cellular response to BMP stimulus	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	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:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	IMP	molecular_function
GO:0001085	RNA polymerase II transcr iption factor binding	IBA	molecular_function
GO:0001103	RNA polymerase II repress ing transcription factor binding	IEA	molecular_function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IBA	molecular_function
GO:0001701	in utero embryonic develo pment	IEA	biological_process
GO:0001889	liver development	IEA	biological_process
GO:0003148	outflow tract septum morp hogenesis	IMP	biological_process
GO:0003309	type B pancreatic cell di fferentiation	IEA	biological_process
GO:0003310	pancreatic A cell differe ntiation	IEA	biological_process
GO:0003677	DNA binding	IEA	molecular_function
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	IBA	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	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:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	IEA	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	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005667	transcription factor comp lex	IEA	cellular_component
GO:0005667	transcription factor comp lex	IBA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	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	IDA	biological_process
GO:0006644	phospholipid metabolic pr ocess	IEA	biological_process
GO:0007493	endodermal cell fate dete rmination	IEA	biological_process
GO:0007596	blood coagulation	TAS	biological_process
GO:0008134	transcription factor bind ing	IEA	molecular_function
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0008270	zinc ion binding	IEA	molecular_function
GO:0008584	male gonad development	IEP	biological_process
GO:0010468	regulation of gene expres sion	IEA	biological_process
GO:0014898	cardiac muscle hypertroph y in response to stress	IEA	biological_process
GO:0019901	protein kinase binding	IPI	molecular_function
GO:0030513	positive regulation of BM P signaling pathway	IBA	biological_process
GO:0030855	epithelial cell different iation	IEA	biological_process
GO:0031016	pancreas development	IEA	biological_process
GO:0032911	negative regulation of tr ansforming growth factor beta1 production	IMP	biological_process
GO:0032912	negative regulation of tr ansforming growth factor beta2 production	IMP	biological_process
GO:0035239	tube morphogenesis	IEA	biological_process
GO:0035987	endodermal cell different iation	IEA	biological_process
GO:0042493	response to drug	IMP	biological_process
GO:0043066	negative regulation of ap optotic process	IMP	biological_process
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0043627	response to estrogen	IEA	biological_process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044267	cellular protein metaboli c process	TAS	biological_process
GO:0045165	cell fate commitment	IBA	biological_process
GO:0045766	positive regulation of an giogenesis	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IEA	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	IDA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0048468	cell development	IBA	biological_process
GO:0048645	animal organ formation	IEA	biological_process
GO:0048738	cardiac muscle tissue dev elopment	IEA	biological_process
GO:0051145	smooth muscle cell differ entiation	IMP	biological_process
GO:0051891	positive regulation of ca rdioblast differentiation	IEA	biological_process
GO:0055007	cardiac muscle cell diffe rentiation	IEA	biological_process
GO:0060045	positive regulation of ca rdiac muscle cell prolife ration	IEA	biological_process
GO:0060430	lung saccule development	IEA	biological_process
GO:0060486	Clara cell differentiatio n	IEA	biological_process
GO:0060510	Type II pneumocyte differ entiation	IEA	biological_process
GO:0060575	intestinal epithelial cel l differentiation	IDA	biological_process
GO:0060947	cardiac vascular smooth m uscle cell differentiatio n	IMP	biological_process
GO:0060947	cardiac vascular smooth m uscle cell differentiatio n	IMP	biological_process
GO:0070848	response to growth factor	IDA	biological_process
GO:0071158	positive regulation of ce ll cycle arrest	IDA	biological_process
GO:0071371	cellular response to gona dotropin stimulus	IEA	biological_process
GO:0071456	cellular response to hypo xia	IDA	biological_process
GO:0071773	cellular response to BMP stimulus	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0000977	RNA polymerase II regulat ory region sequence-speci fic DNA binding	IBA	molecular_function
GO:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	IMP	molecular_function
GO:0001085	RNA polymerase II transcr iption factor binding	IBA	molecular_function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IBA	molecular_function
GO:0003148	outflow tract septum morp hogenesis	IMP	biological_process
GO:0003682	chromatin binding	IBA	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: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:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005667	transcription factor comp lex	IBA	cellular_component
GO:0006366	transcription from RNA po lymerase II promoter	IDA	biological_process
GO:0007596	blood coagulation	TAS	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0008584	male gonad development	IEP	biological_process
GO:0019901	protein kinase binding	IPI	molecular_function
GO:0030513	positive regulation of BM P signaling pathway	IBA	biological_process
GO:0032911	negative regulation of tr ansforming growth factor beta1 production	IMP	biological_process
GO:0032912	negative regulation of tr ansforming growth factor beta2 production	IMP	biological_process
GO:0042493	response to drug	IMP	biological_process
GO:0043066	negative regulation of ap optotic process	IMP	biological_process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044267	cellular protein metaboli c process	TAS	biological_process
GO:0045165	cell fate commitment	IBA	biological_process
GO:0045766	positive regulation of an giogenesis	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	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	IDA	biological_process
GO:0048468	cell development	IBA	biological_process
GO:0051145	smooth muscle cell differ entiation	IMP	biological_process
GO:0060575	intestinal epithelial cel l differentiation	IDA	biological_process
GO:0060947	cardiac vascular smooth m uscle cell differentiatio n	IMP	biological_process
GO:0060947	cardiac vascular smooth m uscle cell differentiatio n	IMP	biological_process
GO:0070848	response to growth factor	IDA	biological_process
GO:0071158	positive regulation of ce ll cycle arrest	IDA	biological_process
GO:0071456	cellular response to hypo xia	IDA	biological_process

Diseases

Associated diseases	References
Atrioventricular septal defect	KEGG: H00547, OMIM: 600576, OMIM: 601656
Congenital heart defects	OMIM: 601656
Endometriosis	PMID: 24603652
Persistent truncus arteriosus	OMIM: 601656
Persistent truncus arteriosus	KEGG: H01736
Polycystic ovary syndrome (PCOS)	PMID: 17070195
Polycystic ovary syndrome (PCOS)	PMID: 16159937
Endometriosis	INFBASE24603652
Tetralogy of Fallot	KEGG: H00549, OMIM: 601656

PubMed references

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