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

    Gene ID: 2626, updated on 4-Jan-2025

    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
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    Genomic context

    See GATA4 in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (11676935..11760002)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (7980285..8063322, complement)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (20 hits/1290 screens)

    Associated conditions

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

    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

    General gene information

    Clone Names

    • MGC126629

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding PubMed 
    enables DNA binding  
    enables DNA-binding transcription activator activity PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific PubMed 
    contributes_to DNA-binding transcription factor activity PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific  
    enables NFAT protein binding  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding PubMed 
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding  
    enables co-SMAD binding PubMed 
    enables protein binding PubMed 
    enables protein kinase binding  
    enables sequence-specific DNA binding  
    enables sequence-specific double-stranded DNA binding PubMed 
    enables transcription cis-regulatory region binding PubMed 
    enables zinc ion binding  
    Items 1 - 25 of 44
    Process Evidence Code Pubs
    involved_in aortic valve morphogenesis PubMed 
    involved_in atrial septum morphogenesis PubMed 
    involved_in atrial septum primum morphogenesis  
    involved_in atrial septum secundum morphogenesis PubMed 
    involved_in atrioventricular canal development PubMed 
    involved_in atrioventricular node development PubMed 
    involved_in atrioventricular valve formation  
    involved_in cardiac muscle tissue regeneration  
    involved_in cardiac right ventricle morphogenesis  
    involved_in cardiac ventricle morphogenesis PubMed 
    involved_in cell fate commitment  
    involved_in cell growth involved in cardiac muscle cell development  
    involved_in cell-cell signaling  
    involved_in cellular response to glucose stimulus  
    involved_in embryonic foregut morphogenesis  
    involved_in embryonic heart tube anterior/posterior pattern specification  
    involved_in endocardial cushion development PubMed 
    involved_in endocardial cushion development  
    involved_in endoderm development PubMed 
    involved_in heart looping  
    acts_upstream_of_or_within intestinal epithelial cell differentiation PubMed 
    involved_in male gonad development PubMed 
    involved_in male gonad development PubMed 
    involved_in negative regulation of apoptotic signaling pathway  
    involved_in negative regulation of autophagy  
    involved_in negative regulation of cardiac muscle cell apoptotic process  
    acts_upstream_of negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway  
    involved_in negative regulation of transcription by RNA polymerase II  
    involved_in positive regulation of BMP signaling pathway  
    involved_in positive regulation of DNA-templated transcription PubMed 
    involved_in positive regulation of DNA-templated transcription  
    involved_in positive regulation of angiogenesis  
    involved_in positive regulation of transcription by RNA polymerase II  
    involved_in positive regulation of transcription by RNA polymerase II PubMed 
    involved_in positive regulation of transcription by RNA polymerase II PubMed 
    involved_in positive regulation of vascular endothelial growth factor production  
    involved_in regulation of DNA-templated transcription  
    involved_in regulation of cardiac muscle cell contraction  
    involved_in response to mechanical stimulus  
    involved_in response to vitamin A  
    involved_in response to xenobiotic stimulus PubMed 
    involved_in transdifferentiation  
    involved_in ventricular septum development  
    involved_in wound healing  
    Items 1 - 25 of 44
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex PubMed 
    located_in chromatin  
    located_in nuclear body  
    located_in nucleoplasm  
    is_active_in nucleus  
    is_active_in nucleus PubMed 
    located_in nucleus PubMed 
    located_in nucleus 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_001308093.3 → 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
    2. 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
    3. 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
    4. 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
    5. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)
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