GATA6: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

GATA6

Aliases

Entrez Gene ID

2627

Gene Name

GATA binding protein 6

Chromosomal Location

18q11.2

HGNC ID

HGNC:4174

Summary

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]

RefSeq DNA

NG_032677.2

RefSeq mRNA

NM_005257.5

e!Ensembl

Gene	ENSG00000141448
Transcript	ENST00000269216, ENST00000581694
Protein	ENSP00000269216, ENSP00000462313

Gene Ontology (GO)

Show/Hide all(31 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000122	Biological process	Negative regulation of transcription by RNA polymerase II	IDA	18177748
GO:0003148	Biological process	Outflow tract septum morphogenesis	IMP	19666519
GO:0006366	Biological process	Transcription by RNA polymerase II	IDA	19666519
GO:0008584	Biological process	Male gonad development	IEP	17848411
GO:0030855	Biological process	Epithelial cell differentiation	IBA	21873635
GO:0032911	Biological process	Negative regulation of transforming growth factor beta1 production	IMP	21127043
GO:0032912	Biological process	Negative regulation of transforming growth factor beta2 production	IMP	21127043
GO:0042493	Biological process	Response to drug	IMP	18671946
GO:0043066	Biological process	Negative regulation of apoptotic process	IMP	21127043
GO:0045766	Biological process	Positive regulation of angiogenesis	IDA	21127043
GO:0045892	Biological process	Negative regulation of transcription, DNA-templated	IDA	18177748
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IMP	22750565, 22824924, 27756709
GO:0051145	Biological process	Smooth muscle cell differentiation	IMP	17626241
GO:0060575	Biological process	Intestinal epithelial cell differentiation	IDA	9566909
GO:0060947	Biological process	Cardiac vascular smooth muscle cell differentiation	IMP	11889139, 12615657
GO:0070848	Biological process	Response to growth factor	IDA	21127043
GO:0071158	Biological process	Positive regulation of cell cycle arrest	IDA	9593712
GO:0071456	Biological process	Cellular response to hypoxia	IDA	21127043
GO:0110024	Biological process	Positive regulation of cardiac muscle myoblast proliferation	IDA	25068583
GO:0005634	Cellular component	Nucleus	IBA	21873635
GO:0005634	Cellular component	Nucleus	IDA	9566909, 9593712, 17785913, 19666519, 20206639, 21127043, 21828274, 27756709
GO:0000978	Molecular function	RNA polymerase II proximal promoter sequence-specific DNA binding	IBA	21873635
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	IMP	21127043
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	19274049
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	NAS	19274049
GO:0003700	Molecular function	DNA-binding transcription factor activity	IDA	19666519
GO:0005515	Molecular function	Protein binding	IPI	11889139, 16199874
GO:0008134	Molecular function	Transcription factor binding	IPI	14988427, 15016828
GO:0019901	Molecular function	Protein kinase binding	IPI	20864106
GO:0044212	Molecular function	Transcription regulatory region DNA binding	IDA	9566909, 18177748, 19666519, 20206639

Protein Information

Protein Name

Transcription factor GATA-6, GATA-binding factor 6

Function

Transcriptional activator (PubMed:19666519, PubMed:27756709, PubMed:22750565, PubMed:22824924). Regulates SEMA3C and PLXNA2 (PubMed:19666519). Involved in gene regulation specifically in the gastric epithelium (PubMed:9315713). May regulate genes that protect epithelial cells from bacterial infection (PubMed:16968778). Involved in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (By similarity). Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity).

Refseq Proteins

NP_005248.2

UniProt

Q92908

Pfam

Pfam Accession	Pfam ID
PF00320	GATA
PF05349	GATA-N