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

Gene ID: 2627, updated on 19-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)

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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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