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

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; AllianceGenome:HGNC:4174
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: mouse all
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Genomic context

Location:: 18q11.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (22169589..22202528)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (22354655..22387589)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (19749550..19782491)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Monogenic Diabetes with GATA6 Mutations: Characterization of a Novel Family and a Comprehensive Analysis of the GATA6 Clinical and Genetics Traits.
Title: Monogenic Diabetes with GATA6 Mutations: Characterization of a Novel Family and a Comprehensive Analysis of the GATA6 Clinical and Genetics Traits.
Dysregulated expression of GATA2 and GATA6 transcription factors in adenomyosis: implications for impaired endometrial receptivity.
Title: Dysregulated expression of GATA2 and GATA6 transcription factors in adenomyosis: implications for impaired endometrial receptivity.
Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitis.
Title: Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitis.
The transcription factor GATA6 accelerates vascular smooth muscle cell senescence-related arterial calcification by counteracting the role of anti-aging factor SIRT6 and impeding DNA damage repair.
Title: The transcription factor GATA6 accelerates vascular smooth muscle cell senescence-related arterial calcification by counteracting the role of anti-aging factor SIRT6 and impeding DNA damage repair.
IGF2BP2 promotes the progression of ovarian endometriosis by regulating m6A-modified MEIS2 and GATA6.
Title: IGF2BP2 promotes the progression of ovarian endometriosis by regulating m6A-modified MEIS2 and GATA6.
Modulating the m6A Modified Transcription Factor GATA6 Impacts Epithelial Cytokines in Acute Lung Injury.
Title: Modulating the m6A Modified Transcription Factor GATA6 Impacts Epithelial Cytokines in Acute Lung Injury.
GATA6 promotes fibrotic repair of tracheal injury through NLRP3 inflammasome-mediated epithelial pyroptosis.
Title: GATA6 promotes fibrotic repair of tracheal injury through NLRP3 inflammasome-mediated epithelial pyroptosis.
LINC00173 blocks GATA6-mediated transcription of COL5A1 to affect malignant development of oral squamous cell carcinoma.
Title: LINC00173 blocks GATA6-mediated transcription of COL5A1 to affect malignant development of oral squamous cell carcinoma.
Circ_0008717 Sponges miR-326 to Elevate GATA6 Expression to Promote Breast Cancer Tumorigenicity.
Title: Circ_0008717 Sponges miR-326 to Elevate GATA6 Expression to Promote Breast Cancer Tumorigenicity.
GATA6 regulates expression of annexin A10 (ANXA10) associated with epithelial-mesenchymal transition of oral squamous cell carcinoma.
Title: GATA6 regulates expression of annexin A10 (ANXA10) associated with epithelial-mesenchymal transition of oral squamous cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (163)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 hypoplasia-diabetes-congenital heart disease syndrome 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

EBI GWAS Catalog

Description
Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GATA6_666 (e-PCR)
- UniSTS:277273

GATA6_V53 (e-PCR)
- UniSTS:277273

RH79922 (e-PCR)
- UniSTS:87343

RH91359 (e-PCR)
- UniSTS:92742

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables NFAT protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within_negative_effect G1 to G0 transition involved in cell differentiation	IDA Inferred from Direct Assay more info	PubMed
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 cell proliferation	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
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
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in heart contraction	IEA Inferred from Electronic Annotation more info
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 DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of miRNA transcription	IEA Inferred from Electronic Annotation more info
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
involved_in negative regulation of transcription by RNA polymerase II	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 odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
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 BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cardiac muscle cell apoptotic process	IEA Inferred from Electronic Annotation more info
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 transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	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 response to cAMP	IEA Inferred from Electronic Annotation more info
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 toxic substance	IEA Inferred from Electronic Annotation more info
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 sinoatrial node development	IEA Inferred from Electronic Annotation more info
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 stem cell differentiation	IEA Inferred from Electronic Annotation more info
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
part_of 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
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor 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

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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

NG_032677.2 RefSeqGene

Range

5153..38092

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005257.6 → NP_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

B0YJ17, P78327, Q92908

UniProtKB/TrEMBL

Q53EU2

Related

ENSP00000269216.3, ENST00000269216.10

Conserved Domains (3) summary

smart00401
Location:441 → 488

ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]

cd00202
Location:443 → 494

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:147 → 377

GATA-N; GATA-type transcription activator, N-terminal