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

    Gene ID: 2627, updated on 26-Sep-2021

    Summary

    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
    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]
    Expression
    Broad expression in stomach (RPKM 24.9), adrenal (RPKM 23.6) and 17 other tissues See more
    Orthologs
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    Genomic context

    See GATA6 in Genome Data Viewer
    Location:
    18q11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (22169589..22202528)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (19749550..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 VISTA enhancer hs502 Neighboring gene uncharacterized LOC105372017 Neighboring gene uncharacterized LOC105372018

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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
    Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.
    GeneReviews: Not available
    Pancreatic agenesis and congenital heart disease
    MedGen: C4012454 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in animal organ formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in atrioventricular canal development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in atrioventricular node development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cardiac muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac muscle hypertrophy in response to stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac vascular smooth muscle cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell fate commitment IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular response to BMP stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to gonadotropin stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in club cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endodermal cell fate determination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within intestinal epithelial cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in liver development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung saccule development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in male gonad development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of sebum secreting cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transforming growth factor beta1 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transforming growth factor beta2 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in outflow tract septum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pancreatic A cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phospholipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cardiac muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cardiac muscle myoblast proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cardioblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transforming growth factor beta activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of antimicrobial humoral response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to growth factor IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to retinoic acid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to xenobiotic stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sebaceous gland cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in skin epidermis development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in smooth muscle cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in tube morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in type B pancreatic cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in type II pneumocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription regulator complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    transcription factor GATA-6
    Names
    GATA-binding factor 6

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_032677.2 RefSeqGene

      Range
      5001..38092
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_005248.2

      Status: REVIEWED

      Source sequence(s)
      AU309820, U66075, X95701
      Consensus CDS
      CCDS11872.1
      UniProtKB/Swiss-Prot
      Q92908
      Related
      ENSP00000269216.3, ENST00000269216.10
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

      Range
      22169589..22202528
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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