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

Gene ID: 2627, updated on 1-Jul-2015
Official Symbol
GATA6provided by HGNC
Official Full Name
GATA binding protein 6provided by HGNC
Primary source
HGNC:HGNC:4174
See related
Ensembl:ENSG00000141448; HPRD:09043; 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
See GATA6 in Epigenomics, MapViewer
Location:
18q11.1-q11.2
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC102724208 Neighboring gene RNA, U7 small nuclear 17 pseudogene Neighboring gene GATA6 antisense RNA 1 (head to head) Neighboring gene uncharacterized LOC105372017 Neighboring gene uncharacterized LOC105372018

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Atrial septal defect 9
MedGen: C3280943 OMIM: 614475 GeneReviews: Not available
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Atrioventricular septal defect 5
MedGen: C3280939 OMIM: 614474 GeneReviews: Not available
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Conotruncal heart malformations
MedGen: C1857586 OMIM: 217095 GeneReviews: Not available
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Pancreatic agenesis and congenital heart disease
MedGen: C1838780 OMIM: 600001 GeneReviews: Not available
not available
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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

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
 
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 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 
organ formation IEA
Inferred from Electronic Annotation
more info
 
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 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 IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
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
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IEA
Inferred from Electronic Annotation
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, OTTHUMP00000162571, ENST00000269216, 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:147381
    GATA-N; GATA-type transcription activator, N-terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p2 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)