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

Gene ID: 2626, updated on 12-Aug-2018
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; Vega:OTTHUMG00000090800
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
See GATA4 in Genome Data Viewer
Location:
8p23.1
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (11676919..11760002)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (11534433..11617510)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 208 Neighboring gene uncharacterized LOC105379242 Neighboring gene VISTA enhancer hs2204 Neighboring gene HNF4 motif-containing MPRA enhancer 121 Neighboring gene small nucleolar RNA, H/ACA box 99 Neighboring gene VISTA enhancer hs2205 Neighboring gene VISTA enhancer hs508 Neighboring gene chromosome 8 open reading frame 49 (putative) Neighboring gene uncharacterized LOC105379243 Neighboring gene nei like DNA glycosylase 2

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

NHGRI 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.
NHGRI GWA Catalog
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
NHGRI GWA Catalog
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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC126629

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA-binding transcription activator activity, RNA polymerase II-specific IGI
Inferred from Genetic Interaction
more info
PubMed 
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
NFAT protein binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II proximal promoter sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IGI
Inferred from Genetic Interaction
more info
PubMed 
RNA polymerase II transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
activating transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
co-SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
enhancer sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
anatomical structure formation involved in morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aortic valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
atrial septum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
atrial septum primum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
atrial septum secundum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
blood coagulation TAS
Traceable Author Statement
more info
 
cardiac right ventricle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac ventricle morphogenesis TAS
Traceable Author Statement
more info
PubMed 
cell development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell growth involved in cardiac muscle cell development IEA
Inferred from Electronic Annotation
more info
 
cell-cell signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
embryonic foregut morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic heart tube anterior/posterior pattern specification ISS
Inferred from Sequence or Structural Similarity
more info
 
endocardial cushion development IMP
Inferred from Mutant Phenotype
more info
PubMed 
endocardial cushion development ISS
Inferred from Sequence or Structural Similarity
more info
 
endoderm development TAS
Traceable Author Statement
more info
PubMed 
heart development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heart looping ISS
Inferred from Sequence or Structural Similarity
more info
 
intestinal epithelial cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
male gonad development IEP
Inferred from Expression Pattern
more info
PubMed 
male gonad development IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of autophagy IEA
Inferred from Electronic Annotation
more info
 
positive regulation of BMP signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cardioblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of vascular endothelial growth factor production ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cardiac muscle cell contraction IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
response to drug IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
response to vitamin A IEA
Inferred from Electronic Annotation
more info
 
tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
transdifferentiation IEA
Inferred from Electronic Annotation
more info
 
ventricular septum development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
RNA polymerase II transcription factor complex IDA
Inferred from Direct Assay
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
Preferred Names
transcription factor GATA-4
Names
GATA-binding factor 4

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_008177.2 RefSeqGene

    Range
    32233..88084
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001295022.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC069185, AF180736, AI192760, AK097060, BC143479, BQ439274, FJ169610
    Consensus CDS
    CCDS78303.1
    UniProtKB/Swiss-Prot
    P43694
    UniProtKB/TrEMBL
    B3KUF4, B6DU75
    Related
    ENSP00000435712.1, OTTHUMP00000229495, ENST00000532059.5, OTTHUMT00000383659
    Conserved Domains (2) summary
    cd00202
    Location:271322
    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:1205
    GATA-N; GATA-type transcription activator, N-terminal
  2. NM_001308094.1NP_001295023.1  transcription factor GATA-4 isoform 3

    See identical proteins and their annotated locations for NP_001295023.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks part of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC069185, AF180736, AI192760, AK097060, BQ439274, FJ169610, HY015197
    Consensus CDS
    CCDS78304.1
    UniProtKB/TrEMBL
    B3KUF4, B6DU75
    Related
    ENSP00000435043.1, OTTHUMP00000229492, ENST00000528712.5, OTTHUMT00000383654
    Conserved Domains (1) summary
    cd00202
    Location:64115
    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
  3. NM_002052.4NP_002043.2  transcription factor GATA-4 isoform 2

    See identical proteins and their annotated locations for NP_002043.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC069185, AF180736, AI192760, AK097060, BC101580, BQ439274, DA900813, HY023604
    Consensus CDS
    CCDS5983.1
    UniProtKB/Swiss-Prot
    P43694
    UniProtKB/TrEMBL
    B3KUF4
    Related
    ENSP00000334458.4, OTTHUMP00000116010, ENST00000335135.8, OTTHUMT00000207587
    Conserved Domains (2) summary
    cd00202
    Location:270321
    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:1205
    GATA-N; GATA-type transcription activator, N-terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    11676919..11760002
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543817.3XP_011542119.1  transcription factor GATA-4 isoform X1

    See identical proteins and their annotated locations for XP_011542119.1

    UniProtKB/Swiss-Prot
    P43694
    Conserved Domains (2) summary
    cd00202
    Location:271322
    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:1205
    GATA-N; GATA-type transcription activator, N-terminal
  2. XM_011543818.2XP_011542120.1  transcription factor GATA-4 isoform X1

    See identical proteins and their annotated locations for XP_011542120.1

    UniProtKB/Swiss-Prot
    P43694
    Conserved Domains (2) summary
    cd00202
    Location:271322
    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:1205
    GATA-N; GATA-type transcription activator, N-terminal
  3. XM_017013312.2XP_016868801.1  transcription factor GATA-4 isoform X1

    UniProtKB/Swiss-Prot
    P43694
    Conserved Domains (2) summary
    cd00202
    Location:271322
    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:1205
    GATA-N; GATA-type transcription activator, N-terminal
  4. XM_005272385.4XP_005272442.1  transcription factor GATA-4 isoform X1

    See identical proteins and their annotated locations for XP_005272442.1

    UniProtKB/Swiss-Prot
    P43694
    Conserved Domains (2) summary
    cd00202
    Location:271322
    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:1205
    GATA-N; GATA-type transcription activator, N-terminal

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p12 PATCHES

    Range
    1588081..1671150 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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