UniProtKB - Q92908 (GATA6_HUMAN)
Protein
Transcription factor GATA-6
Gene
GATA6
Organism
Homo sapiens (Human)
Status
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: Ensembl
- DNA-binding transcription factor activity Source: BHF-UCL
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: UniProtKB
- protein kinase binding Source: UniProtKB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- RNA polymerase II repressing transcription factor binding Source: Ensembl
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
- transcription factor binding Source: UniProtKB
- transcription regulatory region sequence-specific DNA binding Source: UniProtKB
- zinc ion binding Source: InterPro
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
- cell fate commitment Source: GO_Central
- 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
- club cell differentiation Source: Ensembl
- endodermal cell fate determination Source: Ensembl
- epithelial cell differentiation Source: GO_Central
- intestinal epithelial cell differentiation Source: MGI
- in utero embryonic development Source: Ensembl
- liver development Source: Ensembl
- lung saccule development Source: Ensembl
- male gonad development Source: UniProtKB
- negative regulation of apoptotic process Source: UniProtKB
- negative regulation of transcription, DNA-templated Source: UniProtKB
- negative regulation of transcription by RNA polymerase II Source: UniProtKB
- negative regulation of transforming growth factor beta1 production Source: UniProtKB
- negative regulation of transforming growth factor beta2 production Source: UniProtKB
- outflow tract septum morphogenesis Source: BHF-UCL
- pancreatic A cell differentiation Source: Ensembl
- phospholipid metabolic process Source: Ensembl
- positive regulation of angiogenesis Source: UniProtKB
- positive regulation of cardiac muscle cell proliferation Source: Ensembl
- positive regulation of cardiac muscle myoblast proliferation Source: BHF-UCL
- positive regulation of cardioblast differentiation Source: Ensembl
- positive regulation of cell cycle arrest Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: BHF-UCL
- response to drug Source: UniProtKB
- response to estrogen Source: Ensembl
- response to growth factor Source: UniProtKB
- smooth muscle cell differentiation Source: UniProtKB
- tube morphogenesis Source: Ensembl
- type B pancreatic cell differentiation Source: Ensembl
- type II pneumocyte differentiation Source: Ensembl
Keywordsi
Molecular function | Activator, DNA-binding |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q92908 |
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-6Alternative name(s): GATA-binding factor 6 |
Gene namesi | Name:GATA6 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000141448.8 |
HGNCi | HGNC:4174, GATA6 |
MIMi | 601656, gene |
neXtProti | NX_Q92908 |
Subcellular locationi
Nucleus
- Nucleus 2 Publications
Nucleus
- nuclear chromatin Source: NTNU_SB
- nuclear membrane Source: HPA
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- transcription regulator complex Source: Ensembl
Keywords - Cellular componenti
NucleusPathology & 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.
Related information in OMIMFeature 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067382 | 184 | S → N in ASD9 and TOF; loss of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906816EnsemblClinVar. | 1 |
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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
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 |
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.
Related information in OMIMFeature 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | 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 mutationOrganism-specific databases
DisGeNETi | 2627 |
MalaCardsi | GATA6 |
MIMi | 187500, phenotype 217095, phenotype 600001, phenotype 614474, phenotype 614475, phenotype |
OpenTargetsi | ENSG00000141448 |
Orphaneti | 99103, Atrial septal defect, ostium secundum type 99067, Complete atrioventricular septal defect with ventricular hypoplasia 2140, Congenital diaphragmatic hernia 334, Familial atrial fibrillation 2255, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 1330, Partial atrioventricular septal defect 3303, Tetralogy of Fallot |
PharmGKBi | PA28589 |
Miscellaneous databases
Pharosi | Q92908, Tbio |
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 | Graphical view | 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 conjugationProteomic databases
EPDi | Q92908 |
jPOSTi | Q92908 |
MassIVEi | Q92908 |
MaxQBi | Q92908 |
PaxDbi | Q92908 |
PeptideAtlasi | Q92908 |
PRIDEi | Q92908 |
ProteomicsDBi | 75592 [Q92908-1] 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 germinal epithelium of ovary and 169 other tissues |
Genevisiblei | Q92908, HS |
Organism-specific databases
HPAi | ENSG00000141448, Tissue enhanced (ovary) |
Interactioni
Subunit structurei
Interacts with LMCD1.
By similarityGO - Molecular functioni
- protein kinase binding Source: UniProtKB
- RNA polymerase II repressing transcription factor binding Source: Ensembl
- transcription factor binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 108897, 11 interactors |
IntActi | Q92908, 4 interactors |
MINTi | Q92908 |
STRINGi | 9606.ENSP00000269216 |
Miscellaneous databases
RNActi | Q92908, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | 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-fingerPhylogenomic databases
eggNOGi | KOG1601, Eukaryota |
GeneTreei | ENSGT00940000160814 |
HOGENOMi | CLU_027524_0_0_1 |
InParanoidi | Q92908 |
OMAi | ENSMLHC |
OrthoDBi | 1030296at2759 |
PhylomeDBi | Q92908 |
TreeFami | TF315391 |
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 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 |
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 |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative initiation. AlignAdd to basketIsoform 1 (identifier: Q92908-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
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 | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067380 | 15 | G → R4 PublicationsCorresponds to variant dbSNP:rs116262672EnsemblClinVar. | 1 | |
Natural variantiVAR_078427 | 91 | P → S Probable disease-associated variant 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 variant 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 variant 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 variant 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 variant found in patients with atrial fibrillation; gain of function; no effect on subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs761668180EnsemblClinVar. | 1 | |
Natural variantiVAR_078432 | 585 | R → L Probable disease-associated variant found in patients with atrial fibrillation; gain of function; no effect on subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs201707559EnsemblClinVar. | 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 |
CCDSi | CCDS11872.1 [Q92908-1] |
RefSeqi | NP_005248.2, NM_005257.5 [Q92908-1] |
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] |
Keywords - Coding sequence diversityi
Alternative initiation, PolymorphismSimilar proteinsi
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] |
3D structure databases
SMRi | Q92908 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 108897, 11 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 |
jPOSTi | Q92908 |
MassIVEi | Q92908 |
MaxQBi | Q92908 |
PaxDbi | Q92908 |
PeptideAtlasi | Q92908 |
PRIDEi | Q92908 |
ProteomicsDBi | 75592 [Q92908-1] 75593 [Q92908-2] |
Protocols and materials databases
Antibodypediai | 22009, 494 antibodies |
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 |
HGNCi | HGNC:4174, GATA6 |
HPAi | ENSG00000141448, Tissue enhanced (ovary) |
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 septal defect with ventricular hypoplasia 2140, Congenital diaphragmatic hernia 334, Familial atrial fibrillation 2255, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 1330, Partial atrioventricular septal defect 3303, Tetralogy of Fallot |
PharmGKBi | PA28589 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1601, Eukaryota |
GeneTreei | ENSGT00940000160814 |
HOGENOMi | CLU_027524_0_0_1 |
InParanoidi | Q92908 |
OMAi | ENSMLHC |
OrthoDBi | 1030296at2759 |
PhylomeDBi | Q92908 |
TreeFami | TF315391 |
Enzyme and pathway databases
PathwayCommonsi | Q92908 |
Reactomei | R-HSA-5683826, Surfactant metabolism R-HSA-983231, Factors involved in megakaryocyte development and platelet production |
SignaLinki | Q92908 |
SIGNORi | Q92908 |
Miscellaneous databases
BioGRID-ORCSi | 2627, 18 hits in 866 CRISPR screens |
ChiTaRSi | GATA6, human |
GeneWikii | GATA6 |
GenomeRNAii | 2627 |
Pharosi | Q92908, Tbio |
PROi | PR:Q92908 |
RNActi | Q92908, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000141448, Expressed in germinal epithelium of ovary and 169 other tissues |
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 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 |
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... |
MobiDBi | 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: | December 2, 2020 | |
This is version 181 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
Reference proteomeDocuments
- 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 - Human chromosome 18
Human chromosome 18: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations