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Aliases for GATA6 Gene

Aliases for GATA6 Gene

  • GATA Binding Protein 6 2 3 5
  • GATA-Binding Protein 6 2
  • GATA-Binding Factor 6 4

External Ids for GATA6 Gene

Previous GeneCards Identifiers for GATA6 Gene

  • GC18P019625
  • GC18P019481
  • GC18P018003
  • GC18P018001
  • GC18P019749
  • GC18P016596

Summaries for GATA6 Gene

Entrez Gene Summary for GATA6 Gene

  • 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]

GeneCards Summary for GATA6 Gene

GATA6 (GATA Binding Protein 6) is a Protein Coding gene. Diseases associated with GATA6 include Pancreatic Agenesis And Congenital Heart Defects and Atrioventricular Septal Defect 5. Among its related pathways are DREAM Repression and Dynorphin Expression and Surfactant metabolism. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is GATA4.

UniProtKB/Swiss-Prot for GATA6 Gene

  • Transcriptional activator that 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).

Gene Wiki entry for GATA6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GATA6 Gene

Genomics for GATA6 Gene

Regulatory Elements for GATA6 Gene

Enhancers for GATA6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18F022208 1.1 Ensembl ENCODE 11.4 +42.7 42740 6.4 MAZ ZBTB48 JUN ZNF600 SPI1 RNU6-702P GATA6 LOC105372017 GC18M022209
GH18F022207 0.2 ENCODE 11.3 +37.8 37756 0.2 ZNF512 RNU6-702P GATA6 ENSG00000266283 GC18M022209
GH18F022204 0.2 ENCODE 11.3 +36.0 36024 1.3 RNU6-702P GATA6 ENSG00000266283 GC18M022209
GH18F022114 0.6 ENCODE 10.8 -53.7 -53722 2.5 YY2 ZNF366 ZNF512 HNF4G PRDM1 ZNF785 GATA6 RNU6ATAC20P ENSG00000263588
GH18F022163 1.9 VISTA FANTOM5 Ensembl ENCODE 9.8 +12.1 12054 36.4 PKNOX1 ARNT ARID4B FEZF1 YY1 CBX5 KLF13 DEK ZNF263 SP3 ESCO1 ENSG00000265943 GATA6 LOC105372019 RNU6-702P ENSG00000266283
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GATA6 on UCSC Golden Path with GeneCards custom track

Genomic Location for GATA6 Gene

Chromosome:
18
Start:
22,169,437 bp from pter
End:
22,202,528 bp from pter
Size:
33,092 bases
Orientation:
Plus strand

Genomic View for GATA6 Gene

Genes around GATA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GATA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GATA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GATA6 Gene

Proteins for GATA6 Gene

  • Protein details for GATA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92908-GATA6_HUMAN
    Recommended name:
    Transcription factor GATA-6
    Protein Accession:
    Q92908
    Secondary Accessions:
    • B0YJ17
    • P78327

    Protein attributes for GATA6 Gene

    Size:
    595 amino acids
    Molecular mass:
    60033 Da
    Quaternary structure:
    • Interacts with LMCD1.

    Alternative splice isoforms for GATA6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GATA6 Gene

Post-translational modifications for GATA6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GATA6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GATA6 (GATA6)

No data available for DME Specific Peptides for GATA6 Gene

Domains & Families for GATA6 Gene

Gene Families for GATA6 Gene

Suggested Antigen Peptide Sequences for GATA6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92908

UniProtKB/Swiss-Prot:

GATA6_HUMAN :
  • The GATA-type zinc fingers mediate interaction with LMCD1.
  • Contains 2 GATA-type zinc fingers.
Domain:
  • The GATA-type zinc fingers mediate interaction with LMCD1.
Similarity:
  • Contains 2 GATA-type zinc fingers.
genes like me logo Genes that share domains with GATA6: view

Function for GATA6 Gene

Molecular function for GATA6 Gene

GENATLAS Biochemistry:
regulatory transcriptional factor,GATA binding protein expressed in the developing heart,lung,gastrointestinal and gut derived tissues,not in the testis
UniProtKB/Swiss-Prot Function:
Transcriptional activator that 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).

Gene Ontology (GO) - Molecular Function for GATA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA --
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IMP 21127043
GO:0001085 RNA polymerase II transcription factor binding IBA --
GO:0001103 RNA polymerase II repressing transcription factor binding IEA --
genes like me logo Genes that share ontologies with GATA6: view
genes like me logo Genes that share phenotypes with GATA6: view

Human Phenotype Ontology for GATA6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GATA6 Gene

MGI Knock Outs for GATA6:

Animal Model Products

miRNA for GATA6 Gene

miRTarBase miRNAs that target GATA6
Targeted motifs for GATA6 Gene
HOMER Transcription Factor Regulatory Elements motif GATA6
  • Consensus sequence: YCTTATCTBN Submotif: canonical Cell Type: HUG1N GEO ID: GSE51936

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GATA6

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for GATA6 Gene

Localization for GATA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GATA6 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GATA6 Gene COMPARTMENTS Subcellular localization image for GATA6 gene
Compartment Confidence
nucleus 5
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1

Gene Ontology (GO) - Cellular Components for GATA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 9566909
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IBA --
genes like me logo Genes that share ontologies with GATA6: view

Pathways & Interactions for GATA6 Gene

genes like me logo Genes that share pathways with GATA6: view

Pathways by source for GATA6 Gene

Gene Ontology (GO) - Biological Process for GATA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 18177748
GO:0001701 in utero embryonic development IEA --
GO:0001889 liver development IEA --
GO:0003148 outflow tract septum morphogenesis IMP 19666519
GO:0003309 type B pancreatic cell differentiation IEA --
genes like me logo Genes that share ontologies with GATA6: view

No data available for SIGNOR curated interactions for GATA6 Gene

Drugs & Compounds for GATA6 Gene

(4) Drugs for GATA6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for GATA6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GATA6: view

Transcripts for GATA6 Gene

mRNA/cDNA for GATA6 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(56) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GATA6 Gene

GATA binding protein 6:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GATA6

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GATA6 Gene

No ASD Table

Relevant External Links for GATA6 Gene

GeneLoc Exon Structure for
GATA6
ECgene alternative splicing isoforms for
GATA6

Expression for GATA6 Gene

mRNA expression in normal human tissues for GATA6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GATA6 Gene

This gene is overexpressed in Ovary (x6.7), Adrenal Gland (x4.7), and Heart - Left Ventricle (x4.3).

Protein differential expression in normal tissues from HIPED for GATA6 Gene

This gene is overexpressed in Urine (46.2) and Pancreatic juice (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GATA6 Gene



NURSA nuclear receptor signaling pathways regulating expression of GATA6 Gene:

GATA6

SOURCE GeneReport for Unigene cluster for GATA6 Gene:

Hs.514746

mRNA Expression by UniProt/SwissProt for GATA6 Gene:

Q92908-GATA6_HUMAN
Tissue specificity: Expressed in heart, gut and gut-derived tissues.
genes like me logo Genes that share expression patterns with GATA6: view

Primer Products

No data available for Protein tissue co-expression partners for GATA6 Gene

Orthologs for GATA6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GATA6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GATA6 34 35
  • 99.08 (n)
cow
(Bos Taurus)
Mammalia GATA6 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GATA6 34 35
  • 89.91 (n)
rat
(Rattus norvegicus)
Mammalia Gata6 34
  • 85.03 (n)
mouse
(Mus musculus)
Mammalia Gata6 34 16 35
  • 85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GATA6 35
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GATA6 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves GATA6 35
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GATA6 35
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gata6 34
  • 66.14 (n)
pnr 34
African clawed frog
(Xenopus laevis)
Amphibia gata-6 34
zebrafish
(Danio rerio)
Actinopterygii gata6 34 35
  • 64.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta pnr 36 35
  • 78 (a)
grn 36
  • 74 (a)
worm
(Caenorhabditis elegans)
Secernentea elt-1 36
  • 69 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GZF3 37
Species where no ortholog for GATA6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GATA6 Gene

ENSEMBL:
Gene Tree for GATA6 (if available)
TreeFam:
Gene Tree for GATA6 (if available)

Paralogs for GATA6 Gene

Paralogs for GATA6 Gene

(4) SIMAP similar genes for GATA6 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GATA6: view

Variants for GATA6 Gene

Sequence variations from dbSNP and Humsavar for GATA6 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs387906813 Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001], Conotruncal heart malformations (CTHM) [MIM:217095], Pathogenic 22,181,546(+) TGTGC(A/C/G)ATGCT reference, missense
rs387906815 Atrioventricular septal defect 5 (AVSD5) [MIM:614474], Pathogenic 22,171,677(+) GGCAG(C/T)AGCCG reference, missense
rs387906816 Atrial septal defect 9 (ASD9) [MIM:614475], Tetralogy of Fallot (TOF) [MIM:187500], Pathogenic 22,171,695(+) GGCCA(A/G)CTCCC reference, missense
rs387906817 Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001], Pathogenic 22,181,504(+) CAACT(A/G)CCACC reference, missense
rs387906818 Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001], Pathogenic 22,181,516(+) TATGG(C/T)GCAGA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GATA6 Gene

Variant ID Type Subtype PubMed ID
nsv833596 CNV loss 17160897

Variation tolerance for GATA6 Gene

Residual Variation Intolerance Score: 38% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.29; 40.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GATA6 Gene

Human Gene Mutation Database (HGMD)
GATA6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GATA6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GATA6 Gene

Disorders for GATA6 Gene

MalaCards: The human disease database

(22) MalaCards diseases for GATA6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pancreatic agenesis and congenital heart defects
  • heart defects, congenital, and other congenital anomalies
atrioventricular septal defect 5
  • avsd5
atrial septal defect 9
  • atrial heart septal defect 9
tetralogy of fallot
  • tetrology of fallot
conotruncal heart malformations
  • double-outlet right ventricle
- elite association - COSMIC cancer census association via MalaCards
Search GATA6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GATA6_HUMAN
  • Atrial septal defect 9 (ASD9) [MIM:614475]: A 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. {ECO:0000269 PubMed:20631719}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Atrioventricular septal defect 5 (AVSD5) [MIM:614474]: A 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. {ECO:0000269 PubMed:20581743}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Conotruncal heart malformations (CTHM) [MIM:217095]: A 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. {ECO:0000269 PubMed:19666519}. Note=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). {ECO:0000269 PubMed:19666519}.
  • Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]: An 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. {ECO:0000269 PubMed:22158542}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Tetralogy of Fallot (TOF) [MIM:187500]: A 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. {ECO:0000269 PubMed:20581743, ECO:0000269 PubMed:20631719}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GATA6

Genetic Association Database (GAD)
GATA6
Human Genome Epidemiology (HuGE) Navigator
GATA6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GATA6
genes like me logo Genes that share disorders with GATA6: view

No data available for Genatlas for GATA6 Gene

Publications for GATA6 Gene

  1. The human GATA-6 gene: structure, chromosomal location, and regulation of expression by tissue-specific and mitogen-responsive signals. (PMID: 8975704) Suzuki E. … Walsh K. (Genomics 1996) 2 3 4 22 64
  2. A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. (PMID: 20631719) Lin X. … Chen Y.H. (J. Hum. Genet. 2010) 3 4 46 64
  3. Identification of GATA6 sequence variants in patients with congenital heart defects. (PMID: 20581743) Maitra M. … Garg V. (Pediatr. Res. 2010) 3 4 46 64
  4. GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. (PMID: 19666519) Kodo K. … Yamagishi H. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 4 22 64
  5. A conserved role for a GATA transcription factor in regulating epithelial innate immune responses. (PMID: 16968778) Shapira M. … Tan M.W. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 4 22 64

Products for GATA6 Gene

Sources for GATA6 Gene

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