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

    Gene ID: 2626, updated on 5-Nov-2017
    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
    Location:
    8p23.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 small nucleolar RNA, H/ACA box 99 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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    • Cardiac conduction, organism-specific biosystem (from REACTOME)
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      Heart Development, organism-specific biosystemThis pathway has been largely adapted from an article by Deepak Srivastava, Cell. 2006 Sep 22;126(6):1037-48. In this pathway are known transcription factors, miRNAs and regulatory proteins that impa...
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      Notch-mediated HES/HEY network, organism-specific biosystem
      Notch-mediated HES/HEY network
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      Peptide hormone metabolism, organism-specific biosystemPeptide hormones are cleaved from larger precursors in the secretory system (endoplasmic reticulum, Golgi apparatus, secretory granules) of the cell. After secretion peptide hormones are modified and...
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      Physiological and Pathological Hypertrophy of the Heart, organism-specific biosystemPathways in physiological and pathological hypertrophy of the heart. Largely based on the article from Wang Y; ''Signal transduction in cardiac hypertrophy--dissecting compensatory versus pathologica...
    • Physiological factors, organism-specific biosystem (from REACTOME)
      Physiological factors, organism-specific biosystemCardiovascular homeostasis can be regulated by natriuretic peptides (Pandey 2014).
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      Serotonin Receptor 2 and ELK-SRF/GATA4 signaling, organism-specific biosystemThis pathway is courtesy of Ariadne Genomics Pathway Studio.
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      Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP), organism-specific biosystemIn K cells of the intestine the transcription factors PAX6 and PDX-1 activate transcription of the gene encoding Glucose-dependent Insulinotropic Polypeptide (GIP, first called Gastric Inhibitory Pep...
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      Thyroid hormone signaling pathway, organism-specific biosystemThe thyroid hormones (THs) are important regulators of growth, development and metabolism. The action of TH is mainly mediated by T3 (3,5,3'-triiodo-L-thyronine). Thyroid hormones, L-thyroxine (T4) a...
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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
     
    contributes_to DNA binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NFAT protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    RNA polymerase II transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    activating transcription factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    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
     
    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 activity, RNA polymerase II transcription factor binding 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 
    transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    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 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 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 from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter 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
     
    transcription from RNA polymerase II promoter 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 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 (3) summary
      smart00401
      Location:269316
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      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 (2) summary
      smart00401
      Location:62109
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      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 (3) summary
      smart00401
      Location:268315
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      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 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_005272386.1XP_005272443.1  transcription factor GATA-4 isoform X1

      See identical proteins and their annotated locations for XP_005272443.1

      UniProtKB/Swiss-Prot
      P43694
      Conserved Domains (3) summary
      smart00401
      Location:269316
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      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_011543817.2XP_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 (3) summary
      smart00401
      Location:269316
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      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_006716248.1XP_006716311.1  transcription factor GATA-4 isoform X1

      See identical proteins and their annotated locations for XP_006716311.1

      UniProtKB/Swiss-Prot
      P43694
      Conserved Domains (3) summary
      smart00401
      Location:269316
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      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_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 (3) summary
      smart00401
      Location:269316
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      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
    5. XM_017013312.1XP_016868801.1  transcription factor GATA-4 isoform X1

      UniProtKB/Swiss-Prot
      P43694
      Conserved Domains (3) summary
      smart00401
      Location:269316
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      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
    6. 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 (3) summary
      smart00401
      Location:269316
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      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

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      11599955..11683007
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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