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    GATA6 GATA binding protein 6 [ Homo sapiens (human) ]

    Gene ID: 2627, updated on 9-Jul-2017
    Official Symbol
    GATA6provided by HGNC
    Official Full Name
    GATA binding protein 6provided by HGNC
    Primary source
    HGNC:HGNC:4174
    See related
    Ensembl:ENSG00000141448 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]
    Orthologs
    Location:
    18q11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 18 NC_000018.10 (22169437..22202528)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (19749404..19782491)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene RNA, U6atac small nuclear 20, pseudogene Neighboring gene GATA6 antisense RNA 1 (head to head) Neighboring gene RNA, U6 small nuclear 702, pseudogene Neighboring gene uncharacterized LOC105372017 Neighboring gene uncharacterized LOC105372018

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Atrial septal defect 9
    MedGen: C3280943 OMIM: 614475 GeneReviews: Not available
    Compare labs
    Atrioventricular septal defect 5
    MedGen: C3280939 OMIM: 614474 GeneReviews: Not available
    Compare labs
    Conotruncal heart malformations
    MedGen: C1857586 OMIM: 217095 GeneReviews: Not available
    Compare labs
    Pancreatic agenesis and congenital heart disease
    MedGen: C1838780 OMIM: 600001 GeneReviews: Not available
    Compare labs
    Tetralogy of Fallot
    MedGen: C0039685 OMIM: 187500 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2013-06-20)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2013-06-20)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.
    NHGRI GWA Catalog
    • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
      Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
    • Heart Development, organism-specific biosystem (from WikiPathways)
      Heart Development, organism-specific biosystemThis pathway has been largely adapted from an article by Deepak Srivastava, Cell. 2006 Sep 22;126(6):1037-48. In this pathway are known transcription factors, miRNAs and regulatory proteins that impa...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
      Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Notch-mediated HES/HEY network, organism-specific biosystem (from Pathway Interaction Database)
      Notch-mediated HES/HEY network, organism-specific biosystem
      Notch-mediated HES/HEY network
    • Surfactant metabolism, organism-specific biosystem (from REACTOME)
      Surfactant metabolism, organism-specific biosystemThe alveolar region of the lung creates an extensive epithelial surface that mediates the transfer of oxygen and carbon dioxide required for respiration after birth. Type I epithelial cells form the ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II core promoter sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    RNA polymerase II repressing transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II transcription factor activity, sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    RNA polymerase II transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor activity, sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    animal organ formation 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 muscle hypertrophy in response to stress IEA
    Inferred from Electronic Annotation
    more info
     
    cardiac vascular smooth muscle cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    cellular response to BMP stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to gonadotropin stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endodermal cell fate determination 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
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transforming growth factor beta1 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transforming growth factor beta2 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    outflow tract septum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to drug IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    response to growth factor IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 
    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
    nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    transcription factor GATA-6
    Names
    GATA-binding factor 6

    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

    1. NG_032677.1 RefSeqGene

      Range
      4995..38088
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005257.5NP_005248.2  transcription factor GATA-6

      See identical proteins and their annotated locations for NP_005248.2

      Status: REVIEWED

      Source sequence(s)
      AU309820, HY052912, U66075, X95701
      Consensus CDS
      CCDS11872.1
      UniProtKB/Swiss-Prot
      Q92908
      Related
      ENSP00000269216.3, OTTHUMP00000162571, ENST00000269216.7, OTTHUMT00000254696
      Conserved Domains (3) summary
      smart00401
      Location:441488
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      cd00202
      Location:443494
      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:147377
      GATA-N; GATA-type transcription activator, N-terminal

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p7 Primary Assembly

      Range
      22169437..22202528
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018929.2 Alternate CHM1_1.1

      Range
      19676420..19709511
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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