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

    Gene ID: 2626, updated on 11-Apr-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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_000008.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 208 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11456947-11457783 Neighboring gene MPRA-validated peak6905 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11478375-11478875 Neighboring gene Sharpr-MPRA regulatory region 10445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11487938-11488828 Neighboring gene uncharacterized LOC105379242 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:11530424-11530618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:11532437-11532959 Neighboring gene VISTA enhancer hs2204 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18936 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11566565-11567490 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11567491-11568414 Neighboring gene HNF4 motif-containing MPRA enhancer 121 Neighboring gene small nucleolar RNA, H/ACA box 99 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11584607-11585590 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:11593264-11593764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27031 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:11594517-11595018 Neighboring gene VISTA enhancer hs2205 Neighboring gene VISTA enhancer hs508 Neighboring gene uncharacterized LOC124901888 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:11627369-11627869 Neighboring gene long intergenic non-protein coding RNA 2905 Neighboring gene nei like DNA glycosylase 2

    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 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
    Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC126629

    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

    Preferred Names
    transcription factor GATA-4
    Names
    GATA-binding factor 4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      32284..88084
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001308093.3NP_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: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_001308094.2NP_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: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_001374273.1NP_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: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
    4. NM_001374274.1NP_001361203.1  transcription factor GATA-4 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC069185, AC090790
      Conserved Domains (1) summary
      cd00202
      Location:1073
      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
    5. NM_002052.5NP_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: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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      11676935..11760002
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      1588081..1671134 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      7980285..8063322 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)