GATA4 GATA binding protein 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GATA4provided by HGNC
Official Full Name: GATA binding protein 4provided by HGNC
Primary source: HGNC:HGNC:4173
See related: Ensembl:ENSG00000136574 MIM:600576; AllianceGenome:HGNC:4173
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
Also known as: TOF; ASD2; VSD1; TACHD
Summary: This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Expression: Biased expression in ovary (RPKM 23.7), duodenum (RPKM 16.4) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p23.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (11676935..11760002)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (7980285..8063322, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (11534444..11617511)

Chromosome 8 - NC_000008.11 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?

[High expression of Circ-PALLD in heart failure is transcriptionally regulated by the transcription factor GATA4].
Title: [High expression of Circ-PALLD in heart failure is transcriptionally regulated by the transcription factor GATA4].
GATA4 rs61277615, rs73203482, and rs35813172 in Newborns with Transposition of the Great Arteries.
Title: GATA4 rs61277615, rs73203482, and rs35813172 in Newborns with Transposition of the Great Arteries.
GATA4 inhibits odontoblastic differentiation of dental pulp stem cells through targeting IGFBP3.
Title: GATA4 inhibits odontoblastic differentiation of dental pulp stem cells through targeting IGFBP3.
Potential Prognostic Value of GATA4 Depends on the p53 Expression in Primary Glioblastoma Patients.
Title: Potential Prognostic Value of GATA4 Depends on the p53 Expression in Primary Glioblastoma Patients.
Gestational palmitic acid suppresses embryonic GATA-binding protein 4 signaling and causes congenital heart disease.
Title: Gestational palmitic acid suppresses embryonic GATA-binding protein 4 signaling and causes congenital heart disease.
Oncogenic SIRT7 inhibits GATA4 transcriptional activity and activates the Wnt signaling pathway in ovarian cancer.
Title: Oncogenic SIRT7 inhibits GATA4 transcriptional activity and activates the Wnt signaling pathway in ovarian cancer.
GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature.
Title: GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature.
GATA4 controls regionalization of tissue immunity and commensal-driven immunopathology.
Title: GATA4 controls regionalization of tissue immunity and commensal-driven immunopathology.
Bicuspid Aortic Valve-Associated Regulatory Regions Reveal GATA4 Regulation and Function During Human-Induced Pluripotent Stem Cell-Based Endothelial-Mesenchymal Transition-Brief Report.
Title: Bicuspid Aortic Valve-Associated Regulatory Regions Reveal GATA4 Regulation and Function During Human-Induced Pluripotent Stem Cell-Based Endothelial-Mesenchymal Transition-Brief Report.
A GRIP-1-EZH2 switch binding to GATA-4 is linked to the genesis of rhabdomyosarcoma through miR-29a.
Title: A GRIP-1-EZH2 switch binding to GATA-4 is linked to the genesis of rhabdomyosarcoma through miR-29a.

Submit: New GeneRIF Correction See all GeneRIFs (243)

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 2 MedGen: C1842778 OMIM: 607941 GeneReviews: Not available	Compare labs
Atrioventricular septal defect 4 MedGen: C3280781 OMIM: 614430 GeneReviews: Not available	Compare labs
Testicular anomalies with or without congenital heart disease MedGen: C3809858 OMIM: 615542 GeneReviews: Not available	Compare labs
Tetralogy of Fallot MedGen: C0039685 OMIM: 187500 GeneReviews: Not available	Compare labs
Ventricular septal defect 1 MedGen: C3280777 OMIM: 614429 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2017-02-08) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2017-02-08) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. 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

GATA4_664 (e-PCR)
- UniSTS:277272

GATA4_V52 (e-PCR)
- UniSTS:277272

NoName (e-PCR)
- UniSTS:485406

SHGC-148974 (e-PCR)
- UniSTS:173087

RH91374 (e-PCR)
- UniSTS:87079

SHGC-132501 (e-PCR)
- UniSTS:170850

G17268 (e-PCR)
- UniSTS:35688

SHGC-33472 (e-PCR)
- UniSTS:61804

RH11694 (e-PCR)
- UniSTS:59816

D8S2053 (e-PCR)
- UniSTS:42409

SHGC-154552 (e-PCR)
- UniSTS:184764

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription activator activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IGI Inferred from Genetic Interaction more info	PubMed
contributes_to 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	ISA Inferred from Sequence Alignment more info
enables NFAT protein binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IGI Inferred from Genetic Interaction more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables co-SMAD binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IEA Inferred from Electronic Annotation more info
enables sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
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 zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in aortic valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in atrial septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in atrial septum primum morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in atrial septum secundum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
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 atrioventricular valve formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac muscle tissue regeneration	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac right ventricle morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac ventricle morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cell fate commitment	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell growth involved in cardiac muscle cell development	IEA Inferred from Electronic Annotation more info
involved_in cell-cell signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in embryonic foregut morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic heart tube anterior/posterior pattern specification	ISS Inferred from Sequence or Structural Similarity more info
involved_in endocardial cushion development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocardial cushion development	ISS Inferred from Sequence or Structural Similarity more info
involved_in endoderm development	TAS Traceable Author Statement more info	PubMed
involved_in heart looping	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within intestinal epithelial cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in male gonad development	IEP Inferred from Expression Pattern more info	PubMed
involved_in male gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of autophagy	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cardiac muscle cell apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor 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	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
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 positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of vascular endothelial growth factor production	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cardiac muscle cell contraction	IEA Inferred from Electronic Annotation more info
involved_in response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to vitamin A	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transdifferentiation	IEA Inferred from Electronic Annotation more info
involved_in ventricular septum development	ISS Inferred from Sequence or Structural Similarity more info
involved_in wound healing	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in nuclear body	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
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: transcription factor GATA-4

Names: GATA-binding factor 4

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_008177.2 RefSeqGene

Range

32284..88084

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001308093.3 → NP_001295022.1 transcription factor GATA-4 isoform 1

See identical proteins and their annotated locations for NP_001295022.1

Status: REVIEWED

Source sequence(s)

AC069185, AC090790, BC143479

Consensus CDS

CCDS78303.1

UniProtKB/TrEMBL

A0A087WZ09

Related

ENSP00000435712.1, ENST00000532059.6

Conserved Domains (2) summary

cd00202
Location:271 → 322

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:1 → 205

GATA-N; GATA-type transcription activator, N-terminal
NM_001308094.2 → NP_001295023.1 transcription factor GATA-4 isoform 3

See identical proteins and their annotated locations for NP_001295023.1

Status: REVIEWED

Source sequence(s)

AC069185, AF180736, AI192760, AK097060, BQ439274, FJ169610, HY015197

Consensus CDS

CCDS78304.1

UniProtKB/TrEMBL

B3KUF4

Related

ENSP00000435043.1, ENST00000528712.5

Conserved Domains (1) summary

cd00202
Location:64 → 115

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
NM_001374273.1 → NP_001361202.1 transcription factor GATA-4 isoform 3

Status: REVIEWED

Source sequence(s)

AC069185, AC090790

Consensus CDS

CCDS78304.1

UniProtKB/TrEMBL

B3KUF4

Conserved Domains (1) summary

cd00202
Location:64 → 115

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
NM_001374274.1 → NP_001361203.1 transcription factor GATA-4 isoform 4

Status: REVIEWED

Source sequence(s)

AC069185, AC090790

Conserved Domains (1) summary

cd00202
Location:10 → 73

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
NM_002052.5 → NP_002043.2 transcription factor GATA-4 isoform 2

See identical proteins and their annotated locations for NP_002043.2

Status: REVIEWED

Source sequence(s)

AC069185, AF180736, AI192760, AK097060, BC101580, BQ439274, DA900813, HY023604

Consensus CDS

CCDS5983.1

UniProtKB/Swiss-Prot

B7ZKX0, B7ZKZ4, P43694, Q3MJ45, Q5IFM8

UniProtKB/TrEMBL

A0A087WZ09

Related

ENSP00000334458.4, ENST00000335135.8

Conserved Domains (2) summary

cd00202
Location:270 → 321

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:1 → 205

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