GATA6

Functionⁱ

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).By similarity6 Publications

Regions

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Zinc fingerⁱ	390 – 414	GATA-type 1PROSITE-ProRule annotationAdd BLAST		25
Zinc fingerⁱ	444 – 468	GATA-type 2PROSITE-ProRule annotationAdd BLAST		25

GO - Molecular functionⁱ

chromatin binding Source: GO_Central
DNA-binding transcription factor activity
Source: BHF-UCL
Inferred from direct assayⁱ
- 19666519
protein kinase binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 20864106
RNA polymerase II proximal promoter sequence-specific DNA binding Source: Ensembl
RNA polymerase II regulatory region sequence-specific DNA binding Source: GO_Central
RNA polymerase II repressing transcription factor binding Source: Ensembl
RNA polymerase II transcription factor activity, sequence-specific DNA binding
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 21127043
RNA polymerase II transcription factor binding Source: GO_Central
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: GO_Central
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding Source: Ensembl
transcription factor binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 14988427
transcription regulatory region DNA binding
Source: UniProtKB
Inferred from direct assayⁱ
- 18177748
- 20206639
zinc ion binding Source: InterPro

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

animal organ formation Source: Ensembl
blood coagulation Source: Reactome
cardiac muscle cell differentiation Source: Ensembl
cardiac muscle hypertrophy in response to stress Source: Ensembl
cardiac vascular smooth muscle cell differentiation
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 11889139
- 12615657
cellular protein metabolic process Source: Reactome
cellular response to BMP stimulus Source: Ensembl
cellular response to gonadotropin stimulus Source: Ensembl
cellular response to hypoxia
Source: UniProtKB
Inferred from direct assayⁱ
- 21127043
Clara cell differentiation Source: Ensembl
endodermal cell fate determination Source: Ensembl
intestinal epithelial cell differentiation
Source: MGI
Inferred from direct assayⁱ
- 9566909
in utero embryonic development Source: Ensembl
liver development Source: Ensembl
lung saccule development Source: Ensembl
male gonad development
Source: UniProtKB
Inferred from expression patternⁱ
- 17848411
negative regulation of apoptotic process
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 21127043
negative regulation of transcription, DNA-templated
Source: UniProtKB
Inferred from direct assayⁱ
- 18177748
negative regulation of transcription by RNA polymerase II
Source: UniProtKB
Inferred from direct assayⁱ
- 18177748
negative regulation of transforming growth factor beta1 production
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 21127043
negative regulation of transforming growth factor beta2 production
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 21127043
outflow tract septum morphogenesis
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 19666519
pancreatic A cell differentiation Source: Ensembl
phospholipid metabolic process Source: Ensembl
positive regulation of angiogenesis
Source: UniProtKB
Inferred from direct assayⁱ
- 21127043
positive regulation of BMP signaling pathway Source: GO_Central
positive regulation of cardiac muscle cell proliferation Source: Ensembl
positive regulation of cardiac muscle myoblast proliferation
Source: BHF-UCL
Inferred from direct assayⁱ
- 25068583
positive regulation of cardioblast differentiation Source: Ensembl
positive regulation of cell cycle arrest
Source: UniProtKB
Inferred from direct assayⁱ
- 9593712
positive regulation of transcription, DNA-templated
Source: UniProtKB
Inferred from mutant phenotypeⁱ
positive regulation of transcription by RNA polymerase II
Source: UniProtKB
Inferred from direct assayⁱ
- 19497978
response to drug
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 18671946
response to estrogen Source: Ensembl
response to growth factor
Source: UniProtKB
Inferred from direct assayⁱ
- 21127043
smooth muscle cell differentiation
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 17626241
transcription by RNA polymerase II
Source: BHF-UCL
Inferred from direct assayⁱ
- 19666519
tube morphogenesis Source: Ensembl
type B pancreatic cell differentiation Source: Ensembl
type II pneumocyte differentiation Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Activator, DNA-binding
Biological process	Transcription, Transcription regulation
Ligand	Metal-binding, Zinc

Enzyme and pathway databases

Reactomeⁱ	R-HSA-5683826 Surfactant metabolism R-HSA-983231 Factors involved in megakaryocyte development and platelet production
SignaLinkⁱ	Q92908
SIGNORⁱ	Q92908

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Transcription factor GATA-6 Alternative name(s): GATA-binding factor 6
Gene namesⁱ	Name:GATA6
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 18

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000141448.8
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:4174 GATA6
MIMⁱ	601656 gene
neXtProtⁱ	NX_Q92908

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Rare variants in GATA6 may be a cause of susceptibility to atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.3 Publications

Conotruncal heart malformations (CTHM)1 Publication

The disease is caused by mutations affecting the gene represented in this entry. GATA6 mutations have been found in patients with non-syndromic persistent truncus arteriosus (PubMed:19666519).1 Publication

Disease descriptionA group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_067388	466	N → H in CTHM; persistent truncus arteriosus; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906813EnsemblClinVar.		1

Atrial septal defect 9 (ASD9)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Some patients manifest tricuspid valve disease, pulmonary valve disease, and pulmonary artery hypertension.

Tetralogy of Fallot (TOF)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_067383	198	L → V in TOF; uncertain pathological significance; does not affect transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906814EnsemblClinVar.		1

Atrioventricular septal defect 5 (AVSD5)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_067381	178	A → V in AVSD5; increased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906815EnsemblClinVar.		1

Pancreatic agenesis and congenital heart defects (PACHD)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal dominant disease characterized by pancreatic severe hypoplasia or agenesis, diabetes mellitus, and congenital heart abnormalities including ventricular septal defect, patent ductus arteriosus, pulmonary artery stenosis, truncus arteriosus and tetralogy of Fallot.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_067384	452	T → A in PACHD. 1 PublicationCorresponds to variant dbSNP:rs387906817EnsemblClinVar.	1
Natural variantⁱVAR_067385	456	R → C in PACHD; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906818EnsemblClinVar.	1
Natural variantⁱVAR_067386	456	R → H in PACHD. 1 PublicationCorresponds to variant dbSNP:rs387906819EnsemblClinVar.	1
Natural variantⁱVAR_067387	466	N → D in PACHD; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906813EnsemblClinVar.	1
Natural variantⁱVAR_067389	467	A → T in PACHD; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906820EnsemblClinVar.	1
Natural variantⁱVAR_067390	473	K → Q in PACHD; loss of transcriptional activity. 1 Publication	1

Keywords - Diseaseⁱ

Atrial septal defect, Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	2627
MalaCards human disease database More...MalaCardsⁱ	GATA6
MIMⁱ	187500 phenotype 217095 phenotype 600001 phenotype 614474 phenotype 614475 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000141448
Orphanetⁱ	99103 Atrial septal defect, ostium secundum type 99067 Complete atrioventricular canal - ventricle hypoplasia 2140 Congenital diaphragmatic hernia 334 Familial atrial fibrillation 2255 Pancreatic hypoplasia - diabetes - congenital heart disease 1330 Partial atrioventricular canal 3303 Tetralogy of Fallot
PharmGKBⁱ	PA28589

Polymorphism and mutation databases

BioMutaⁱ	GATA6
DMDMⁱ	215273987

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000083423	1 – 595	Transcription factor GATA-6Add BLAST		595

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	268	PhosphoserineCombined sources	1
Cross-linkⁱ	429	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linkⁱ	473	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linkⁱ	484	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMⁱ

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDⁱ	Q92908
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q92908
PaxDbⁱ	Q92908
PeptideAtlas More...PeptideAtlasⁱ	Q92908
PRIDEⁱ	Q92908
ProteomicsDBⁱ	75592 75593 [Q92908-2]

PTM databases

iPTMnetⁱ	Q92908
PhosphoSitePlusⁱ	Q92908

Expressionⁱ

Tissue specificityⁱ

Expressed in heart, gut and gut-derived tissues.

Gene expression databases

Bgeeⁱ	ENSG00000141448 Expressed in 158 organ(s), highest expression level in germinal epithelium of ovary
CleanExⁱ	HS_GATA6
Genevisibleⁱ	Q92908 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB011581 HPA066629

HPAⁱ

CAB011581
HPA066629

Interactionⁱ

Subunit structureⁱ

Interacts with LMCD1.By similarity

GO - Molecular functionⁱ

protein kinase binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 20864106
RNA polymerase II repressing transcription factor binding Source: Ensembl
RNA polymerase II transcription factor binding Source: GO_Central
transcription factor binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 14988427

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	108897, 8 interactors
IntActⁱ	Q92908, 4 interactors
Molecular INTeraction database More...MINTⁱ	Q92908
STRINGⁱ	9606.ENSP00000269216

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q92908
SMRⁱ	Q92908
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Compositional bias

Feature key	Position(s)	DescriptionActions	Length
Compositional biasⁱ	173 – 183	Poly-AlaAdd BLAST	11
Compositional biasⁱ	324 – 333	Poly-His	10
Compositional biasⁱ	449 – 453	Poly-Thr	5

Domainⁱ

The GATA-type zinc fingers mediate interaction with LMCD1.By similarity

Zinc finger

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Zinc fingerⁱ	390 – 414	GATA-type 1PROSITE-ProRule annotationAdd BLAST		25
Zinc fingerⁱ	444 – 468	GATA-type 2PROSITE-ProRule annotationAdd BLAST		25

Keywords - Domainⁱ

Repeat, Zinc-finger

Phylogenomic databases

eggNOGⁱ	KOG1601 Eukaryota COG5641 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000119221
HOGENOMⁱ	HOG000047700
HOVERGENⁱ	HBG051703
InParanoidⁱ	Q92908
KEGG Orthology (KO) More...KOⁱ	K17897
OMAⁱ	GAHPGWP
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0AUR
PhylomeDBⁱ	Q92908
TreeFamⁱ	TF315391

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00202 ZnF_GATA, 2 hits
Gene3Dⁱ	3.30.50.10, 2 hits
InterProⁱ	View protein in InterPro IPR008013 GATA_N IPR016375 TF_GATA_4/5/6 IPR039355 Transcription_factor_GATA IPR000679 Znf_GATA IPR013088 Znf_NHR/GATA
PANTHERⁱ	PTHR10071 PTHR10071, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00320 GATA, 2 hits PF05349 GATA-N, 1 hit
PIRSFⁱ	PIRSF003028 TF_GATA_4/5/6, 1 hit
PRINTSⁱ	PR00619 GATAZNFINGER
SMARTⁱ	View protein in SMART SM00401 ZnF_GATA, 2 hits
PROSITEⁱ	View protein in PROSITE PS00344 GATA_ZN_FINGER_1, 2 hits PS50114 GATA_ZN_FINGER_2, 2 hits

Sequences (2)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative initiation. Align Add to basket

Isoform 1 (identifier: Q92908-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MALTDGGWCL PKRFGAAGAD ASDSRAFPAR EPSTPPSPIS SSSSSCSRGG 
        60         70         80         90        100
ERGPGGASNC GTPQLDTEAA AGPPARSLLL SSYASHPFGA PHGPSAPGVA 
       110        120        130        140        150
GPGGNLSSWE DLLLFTDLDQ AATASKLLWS SRGAKLSPFA PEQPEEMYQT 
       160        170        180        190        200
LAALSSQGPA AYDGAPGGFV HSAAAAAAAA AAASSPVYVP TTRVGSMLPG 
       210        220        230        240        250
LPYHLQGSGS GPANHAGGAG AHPGWPQASA DSPPYGSGGG AAGGGAAGPG 
       260        270        280        290        300
GAGSAAAHVS ARFPYSPSPP MANGAAREPG GYAAAGSGGA GGVSGGGSSL 
       310        320        330        340        350
AAMGGREPQY SSLSAARPLN GTYHHHHHHH HHHPSPYSPY VGAPLTPAWP 
       360        370        380        390        400
AGPFETPVLH SLQSRAGAPL PVPRGPSADL LEDLSESREC VNCGSIQTPL 
       410        420        430        440        450
WRRDGTGHYL CNACGLYSKM NGLSRPLIKP QKRVPSSRRL GLSCANCHTT 
       460        470        480        490        500
TTTLWRRNAE GEPVCNACGL YMKLHGVPRP LAMKKEGIQT RKRKPKNINK 
       510        520        530        540        550
SKTCSGNSNN SIPMTPTSTS SNSDDCSKNT SPTTQPTASG AGAPVMTGAG 
       560        570        580        590 
ESTNPENSEL KYSGQDGLYI GVSLASPAEV TSSVRPDSWC ALALA

Length:595

Mass (Da):60,033

Last modified:November 25, 2008 - v2

Checksum:ⁱC4D5410916543E0B

GO

Isoform 2 (identifier: Q92908-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-146: Missing.

« Hide

        10         20         30         40         50
MYQTLAALSS QGPAAYDGAP GGFVHSAAAA AAAAAAASSP VYVPTTRVGS 
        60         70         80         90        100
MLPGLPYHLQ GSGSGPANHA GGAGAHPGWP QASADSPPYG SGGGAAGGGA 
       110        120        130        140        150
AGPGGAGSAA AHVSARFPYS PSPPMANGAA REPGGYAAAG SGGAGGVSGG 
       160        170        180        190        200
GSSLAAMGGR EPQYSSLSAA RPLNGTYHHH HHHHHHHPSP YSPYVGAPLT 
       210        220        230        240        250
PAWPAGPFET PVLHSLQSRA GAPLPVPRGP SADLLEDLSE SRECVNCGSI 
       260        270        280        290        300
QTPLWRRDGT GHYLCNACGL YSKMNGLSRP LIKPQKRVPS SRRLGLSCAN 
       310        320        330        340        350
CHTTTTTLWR RNAEGEPVCN ACGLYMKLHG VPRPLAMKKE GIQTRKRKPK 
       360        370        380        390        400
NINKSKTCSG NSNNSIPMTP TSTSSNSDDC SKNTSPTTQP TASGAGAPVM 
       410        420        430        440 
TGAGESTNPE NSELKYSGQD GLYIGVSLAS PAEVTSSVRP DSWCALALA

Note: Produced by alternative initiation at Met-147 of isoform 1.

Show »

Length:449

Mass (Da):45,386

Checksum:ⁱ2A0C294757CC2E92

GO

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	281	G → V in CAA64997 (PubMed:9294001).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_067380	15	G → R4 PublicationsCorresponds to variant dbSNP:rs116262672EnsemblClinVar.	1
Natural variantⁱVAR_078427	91	P → S Probable disease-associated mutation found in patients with atrial fibrillation; gain of function; no effect on subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs766886560EnsemblClinVar.	1
Natural variantⁱVAR_078428	177	A → T Probable disease-associated mutation found in patients with atrial fibrillation; gain of function; no effect on subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs1263887431Ensembl.	1
Natural variantⁱVAR_067381	178	A → V in AVSD5; increased transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906815EnsemblClinVar.	1
Natural variantⁱVAR_067382	184	S → N in ASD9 and TOF; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906816EnsemblClinVar.	1
Natural variantⁱVAR_067383	198	L → V in TOF; uncertain pathological significance; does not affect transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906814EnsemblClinVar.	1
Natural variantⁱVAR_078429	235	Y → S Probable disease-associated mutation found in patients with atrial fibrillation; significant loss of transcriptional activator activity. 1 Publication	1
Natural variantⁱVAR_067384	452	T → A in PACHD. 1 PublicationCorresponds to variant dbSNP:rs387906817EnsemblClinVar.	1
Natural variantⁱVAR_067385	456	R → C in PACHD; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906818EnsemblClinVar.	1
Natural variantⁱVAR_067386	456	R → H in PACHD. 1 PublicationCorresponds to variant dbSNP:rs387906819EnsemblClinVar.	1
Natural variantⁱVAR_067387	466	N → D in PACHD; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906813EnsemblClinVar.	1
Natural variantⁱVAR_067388	466	N → H in CTHM; persistent truncus arteriosus; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906813EnsemblClinVar.	1
Natural variantⁱVAR_067389	467	A → T in PACHD; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906820EnsemblClinVar.	1
Natural variantⁱVAR_078430	469	G → V Probable disease-associated mutation found in patients with atrial fibrillation; significant loss of transcriptional activator activity. 1 Publication	1
Natural variantⁱVAR_067390	473	K → Q in PACHD; loss of transcriptional activity. 1 Publication	1
Natural variantⁱVAR_078431	543	A → G Probable disease-associated mutation found in patients with atrial fibrillation; gain of function; no effect on subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs761668180Ensembl.	1
Natural variantⁱVAR_078432	585	R → L Probable disease-associated mutation found in patients with atrial fibrillation; gain of function; no effect on subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs201707559Ensembl.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_035778	1 – 146	Missing in isoform 2. 3 PublicationsAdd BLAST		146

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	U66075 mRNA Translation: AAC50941.1 X95701 mRNA Translation: CAA64997.1 D87811 mRNA Translation: BAA22621.1 EF444980 Genomic DNA Translation: ACA05995.1 AC091588 Genomic DNA No translation available. CH471088 Genomic DNA Translation: EAX01137.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS11872.1 [Q92908-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_005248.2, NM_005257.5 [Q92908-1]
UniGeneⁱ	Hs.514746 Hs.741506

Genome annotation databases

Ensemblⁱ	ENST00000269216; ENSP00000269216; ENSG00000141448 [Q92908-1] ENST00000581694; ENSP00000462313; ENSG00000141448 [Q92908-1]
GeneIDⁱ	2627
KEGGⁱ	hsa:2627
UCSC genome browser More...UCSCⁱ	uc002ktt.2 human [Q92908-1]

Keywords - Coding sequence diversityⁱ

Alternative initiation, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q92908	GATA6 protein (Fragment)		HUMAN		172	UniRef100_Q92908
Isoform 2 of Transcription factor GATA-6		HUMAN		449

Protein	Similar proteins		Species	Score	Length	Source
Q92908	Transcription factor GATA-6		RAT		587	UniRef90_Q92908
Transcription factor GATA-6 (Fragment)		PIG		451
GATA6 protein (Fragment)		HUMAN		172
Uncharacterized protein		FELCA		646
GATA binding protein 6		GORGO		596
+56

Protein	Similar proteins		Species	Score	Length	Source
Q92908	Transcription factor GATA-6		RAT		587	UniRef50_Q92908
Transcription factor GATA-6 (Fragment)		PIG		451
Transcription factor GATA-6		MOUSE		589
GATA6 protein (Fragment)		HUMAN		172
Uncharacterized protein		FELCA		646
+73

Cross-referencesⁱ

Web resourcesⁱ

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	U66075 mRNA Translation: AAC50941.1 X95701 mRNA Translation: CAA64997.1 D87811 mRNA Translation: BAA22621.1 EF444980 Genomic DNA Translation: ACA05995.1 AC091588 Genomic DNA No translation available. CH471088 Genomic DNA Translation: EAX01137.1
CCDSⁱ	CCDS11872.1 [Q92908-1]
RefSeqⁱ	NP_005248.2, NM_005257.5 [Q92908-1]
UniGeneⁱ	Hs.514746 Hs.741506

3D structure databases

ProteinModelPortalⁱ	Q92908
SMRⁱ	Q92908
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	108897, 8 interactors
IntActⁱ	Q92908, 4 interactors
MINTⁱ	Q92908
STRINGⁱ	9606.ENSP00000269216

PTM databases

iPTMnetⁱ	Q92908
PhosphoSitePlusⁱ	Q92908

Polymorphism and mutation databases

BioMutaⁱ	GATA6
DMDMⁱ	215273987

Proteomic databases

EPDⁱ	Q92908
MaxQBⁱ	Q92908
PaxDbⁱ	Q92908
PeptideAtlasⁱ	Q92908
PRIDEⁱ	Q92908
ProteomicsDBⁱ	75592 75593 [Q92908-2]

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000269216; ENSP00000269216; ENSG00000141448 [Q92908-1] ENST00000581694; ENSP00000462313; ENSG00000141448 [Q92908-1]
GeneIDⁱ	2627
KEGGⁱ	hsa:2627
UCSCⁱ	uc002ktt.2 human [Q92908-1]

Organism-specific databases

CTDⁱ	2627
DisGeNETⁱ	2627
EuPathDBⁱ	HostDB:ENSG00000141448.8
GeneCardsⁱ	GATA6
H-InvDBⁱ	HIX0039732
HGNCⁱ	HGNC:4174 GATA6
HPAⁱ	CAB011581 HPA066629
MalaCardsⁱ	GATA6
MIMⁱ	187500 phenotype 217095 phenotype 600001 phenotype 601656 gene 614474 phenotype 614475 phenotype
neXtProtⁱ	NX_Q92908
OpenTargetsⁱ	ENSG00000141448
Orphanetⁱ	99103 Atrial septal defect, ostium secundum type 99067 Complete atrioventricular canal - ventricle hypoplasia 2140 Congenital diaphragmatic hernia 334 Familial atrial fibrillation 2255 Pancreatic hypoplasia - diabetes - congenital heart disease 1330 Partial atrioventricular canal 3303 Tetralogy of Fallot
PharmGKBⁱ	PA28589
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1601 Eukaryota COG5641 LUCA
GeneTreeⁱ	ENSGT00760000119221
HOGENOMⁱ	HOG000047700
HOVERGENⁱ	HBG051703
InParanoidⁱ	Q92908
KOⁱ	K17897
OMAⁱ	GAHPGWP
OrthoDBⁱ	EOG091G0AUR
PhylomeDBⁱ	Q92908
TreeFamⁱ	TF315391

Enzyme and pathway databases

Reactomeⁱ	R-HSA-5683826 Surfactant metabolism R-HSA-983231 Factors involved in megakaryocyte development and platelet production
SignaLinkⁱ	Q92908
SIGNORⁱ	Q92908

Miscellaneous databases

ChiTaRSⁱ	GATA6 human
GeneWikiⁱ	GATA6
GenomeRNAiⁱ	2627
Protein Ontology More...PROⁱ	PR:Q92908
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000141448 Expressed in 158 organ(s), highest expression level in germinal epithelium of ovary
CleanExⁱ	HS_GATA6
Genevisibleⁱ	Q92908 HS

Family and domain databases

CDDⁱ	cd00202 ZnF_GATA, 2 hits
Gene3Dⁱ	3.30.50.10, 2 hits
InterProⁱ	View protein in InterPro IPR008013 GATA_N IPR016375 TF_GATA_4/5/6 IPR039355 Transcription_factor_GATA IPR000679 Znf_GATA IPR013088 Znf_NHR/GATA
PANTHERⁱ	PTHR10071 PTHR10071, 1 hit
Pfamⁱ	View protein in Pfam PF00320 GATA, 2 hits PF05349 GATA-N, 1 hit
PIRSFⁱ	PIRSF003028 TF_GATA_4/5/6, 1 hit
PRINTSⁱ	PR00619 GATAZNFINGER
SMARTⁱ	View protein in SMART SM00401 ZnF_GATA, 2 hits
PROSITEⁱ	View protein in PROSITE PS00344 GATA_ZN_FINGER_1, 2 hits PS50114 GATA_ZN_FINGER_2, 2 hits
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	GATA6_HUMAN
Accessionⁱ	Q92908Primary (citable) accession number: Q92908 Secondary accession number(s): B0YJ17, P78327
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
	Last sequence update:	November 25, 2008
	Last modified:	October 10, 2018
	This is version 165 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human chromosome 18
Human chromosome 18: entries, gene names and cross-references to MIM
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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UniProtKB - Q92908 (GATA6_HUMAN)

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Transcription factor GATA-6

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Functionⁱ

GO - Molecular functionⁱ

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Names & Taxonomyⁱ

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Keywords - Diseaseⁱ

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Keywords - Coding sequence diversityⁱ

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