GATA6 GATA binding protein 6 [Homo sapiens] - Gene

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Summary

Official Symbol: GATA6provided by HGNC
Official Full Name: GATA binding protein 6provided by HGNC
Primary source: HGNC:4174
See related: Ensembl:ENSG00000141448; HPRD:09043; MIM:601656; Vega:OTTHUMG00000131767
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]

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Genomic context

Location :: 18q11.1-q11.2

Sequence :: Chromosome: 18; NC_000018.9 (19749416..19782227)

See GATA6 in Epigenomics, MapViewer

Chromosome 18 - NC_000018.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Selective gene amplification of GATA6 during esophageal adenocarcinomas development sustains oncogenic lineage-survival of esophageal adenocarcinoma.
Title: Activation of GATA binding protein 6 (GATA6) sustains oncogenic lineage-survival in esophageal adenocarcinoma.
These findings define the most common cause of human pancreatic agenesis and establish a key role for the transcription factor GATA6 in human pancreatic development.
Title: GATA6 haploinsufficiency causes pancreatic agenesis in humans.
GATA6 promotes pancreatic carcinogenesis by virtue of its activation of canonical Wnt signaling via regulation of DKK1.
Title: GATA6 activates Wnt signaling in pancreatic cancer by negatively regulating the Wnt antagonist Dickkopf-1.
The study individuates GATA6 as novel player in the complex transcriptional regulation of mesoangioblast differentiation into SM cells and highlights a role for S1P to favour vascular regeneration.
Title: Sphingosine 1-phosphate induces differentiation of mesoangioblasts towards smooth muscle. A role for GATA6.
GATA-6 acts as a transcriptional repressor of CAV1 gene expression in partial bladder outlet obstruction-induced bladder wall smooth muscle hypertrophy
Title: Transcriptional repression of Caveolin-1 (CAV1) gene expression by GATA-6 in bladder smooth muscle hypertrophy in mice and human beings.
Results suggest that the expression of GATA-6 at the early stages of the preterm lung may be related to impaired postnatal alveolar development.
Title: Expression of Transcription Factor GATA-6 in Alveolar Epithelial Cells Is Linked to Neonatal Lung Disease.
GATA6 plays a crucial role for endothelial cell function and survival, at least in part, by suppressing autocrine TGFbeta expression and ALK5-dependent signaling.
Title: GATA6 promotes angiogenic function and survival in endothelial cells by suppression of autocrine transforming growth factor beta/activin receptor-like kinase 5 signaling.
Data show that GATA6 is an important regulator of uPA gene expression, and the dysregulated expression of GATA6 contributes to colorectal tumorigenesis and tumor invasion.
Title: GATA6 promotes colon cancer cell invasion by regulating urokinase plasminogen activator gene expression.
PTEN selectively inhibits expression of VCAM-1 but not ICAM-1 through modulation of PI3K/Akt/GSK-3beta/GATA-6 signaling cascade in TNF-alpha-treated endothelial cells
Title: PTEN differentially regulates expressions of ICAM-1 and VCAM-1 through PI3K/Akt/GSK-3β/GATA-6 signaling pathways in TNF-α-activated human endothelial cells.
All these data suggest that GATA6 Ser184Asn is a novel mutation associated with CHDs and has an important role in disease pathogenesis.
Title: A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.

Submit: New GeneRIF Correction See all (49)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Atrioventricular septal defect 5

MIM: 614474

Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.

Pancreatic agenesis and congenital heart defects

MIM: 600001

Products	Interactant	Other Gene	Source	Pubs	Description
NP_005248.2	NT_010966.13		BIND	PubMed	GATA-6 interacts with I-BRE, which is an intronic region of the Smad7 gene.
Q92908	P52943	CRIP2	HPRD	PubMed
Q92908	Q09472	EP300	HPRD	PubMed
Q92908	Q03014	HHEX	HPRD	PubMed
Q92908	Q15648	MED1	HPRD	PubMed
Q92908	P43699	NKX2-1	HPRD	PubMed
BioGRID:108897	BioGRID:107459	CDK9	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108897	BioGRID:108347	EP300	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108897	BioGRID:115645	KLF2	BioGRID	PubMed	Two-hybrid
BioGRID:108897	BioGRID:112550	SP1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex

Function	Evidence Code	Pubs
RNA polymerase II repressing transcription factor binding	IEA Inferred from Electronic Annotation more info
chromatin binding	IEA Inferred from Electronic Annotation more info
double-stranded DNA binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein kinase binding	IPI Inferred from Physical Interaction more info
sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding RNA polymerase II transcription factor activity	IMP Inferred from Mutant Phenotype more info
sequence-specific DNA binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
sequence-specific distal enhancer binding RNA polymerase II transcription factor activity	IEA Inferred from Electronic Annotation more info
transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
transcription regulatory region DNA binding	IDA Inferred from Direct Assay more info	PubMed
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
Clara cell differentiation	IEA Inferred from Electronic Annotation more info
Type II pneumocyte differentiation	IEA Inferred from Electronic Annotation more info
blood coagulation	TAS Traceable Author Statement more info
cardiac muscle cell differentiation	IEA Inferred from Electronic Annotation more info
cardiac vascular smooth muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
cellular response to gonadotropin stimulus	IEA Inferred from Electronic Annotation more info
cellular response to hypoxia	IDA Inferred from Direct Assay more info
endoderm development	IEA Inferred from Electronic Annotation more info
endodermal cell fate determination	IEA Inferred from Electronic Annotation more info
epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
in utero embryonic development	IEA Inferred from Electronic Annotation more info
intestinal epithelial cell differentiation	IDA Inferred from Direct Assay more info	PubMed
liver development	IEA Inferred from Electronic Annotation more info
lung saccule development	IEA Inferred from Electronic Annotation more info
male gonad development	IEP Inferred from Expression Pattern more info	PubMed
negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info
negative regulation of transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
negative regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
negative regulation of transforming growth factor beta1 production	IMP Inferred from Mutant Phenotype more info
negative regulation of transforming growth factor beta2 production	IMP Inferred from Mutant Phenotype more info
odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
organ formation	IEA Inferred from Electronic Annotation more info
outflow tract septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
pancreas development	IEA Inferred from Electronic Annotation more info
pancreatic A cell differentiation	IEA Inferred from Electronic Annotation more info
phospholipid metabolic process	IEA Inferred from Electronic Annotation more info
positive regulation of BMP signaling pathway	IEA Inferred from Electronic Annotation more info
positive regulation of angiogenesis	IDA Inferred from Direct Assay more info
positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
positive regulation of cardiac muscle cell proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of cardioblast differentiation	IEA Inferred from Electronic Annotation more info
positive regulation of cell cycle arrest	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info
regulation of transcription from RNA polymerase II promoter	IMP Inferred from Mutant Phenotype more info
response to cAMP	IEA Inferred from Electronic Annotation more info
response to drug	IMP Inferred from Mutant Phenotype more info	PubMed
response to estrogen stimulus	IEA Inferred from Electronic Annotation more info
response to growth factor stimulus	IDA Inferred from Direct Assay more info
response to toxin	IEA Inferred from Electronic Annotation more info
smooth muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
transcription from RNA polymerase II promoter	IMP Inferred from Mutant Phenotype more info
tube morphogenesis	IEA Inferred from Electronic Annotation more info
type B pancreatic cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
nucleoplasm	TAS Traceable Author Statement more info
nucleus	IDA Inferred from Direct Assay more info	PubMed
transcription factor complex	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: transcription factor GATA-6

Names: transcription factor GATA-6; GATA-binding factor 6

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032677.1 RefSeqGene

Range

5001..38088

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005257.4 → NP_005248.2 transcription factor GATA-6

Status: REVIEWED

Source sequence(s)

AK223547, AU309820, CN280495, N91601, U66075, W19304, X95701

Consensus CDS

CCDS11872.1

UniProtKB/TrEMBL

Q05CA6

UniProtKB/Swiss-Prot

Q92908

Related

ENSP00000269216, OTTHUMP00000162571, ENST00000269216, OTTHUMT00000254696

Conserved Domains (2) summary

cd00202
Location:443 – 494
Blast Score: 175

ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C

pfam05349
Location:147 – 381
Blast Score: 246

GATA-N; GATA-type transcription activator, N-terminal

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000018.9 Reference GRCh37.p5 Primary Assembly

Range

19749416..19782227

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000150.1 Alternate HuRef

Range

16596246..16629059

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC091588.6 (93026..125837)	None
genomic	CH471088.1	EAX01137.1
genomic	EF444980.1	ACA05995.1
mRNA	AK223547.1	BAD97267.1
mRNA	AU309820.1	None
mRNA	BC027891.1	AAH27891.1
mRNA	CN280495.1	None
mRNA	D87811.1	BAA22621.1
mRNA	N91601.1	None
mRNA	U66075.1	AAC50941.1
mRNA	W19304.1	None
mRNA	X95701.1	CAA64997.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q05CA6	GenPept	UniProtKB/TrEMBL:Q05CA6
Q53EU2	GenPept	UniProtKB/TrEMBL:Q53EU2
Q92908.2	GenPept	UniProtKB/Swiss-Prot:Q92908