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GATA4 Gene

protein-coding   GIFtS: 69
GCID: GC08P011599

GATA Binding Protein 4

(Previous name: GATA-binding protein 4)
  See GATA4-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
GATA Binding Protein 41 2     VSD12 5
GATA-Binding Factor 42 3     GATA-Binding Protein 41
ASD22 5     Transcription Factor GATA-42
TACHD2 5     

External Ids:    HGNC: 41731   Entrez Gene: 26262   Ensembl: ENSG000001365747   OMIM: 6005765   UniProtKB: P436943   

Export aliases for GATA4 gene to outside databases

Previous GC identifers: GC08P011628 GC08P011554 GC08P011405 GC08P010492


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GATA4 Gene:
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. Mutations in this gene have been
associated with cardiac septal defects. (provided by RefSeq, Jul 2008)

GeneCards Summary for GATA4 Gene:
GATA4 (GATA binding protein 4) is a protein-coding gene. Diseases associated with GATA4 include pyromania, and testicular anomalies with or without congenital heart disease. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is GATA6.

UniProtKB/Swiss-Prot: GATA4_HUMAN, P43694
Function: Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in
cardiac development. Acts as a transcriptional activator of ANF in cooperation with NKX2-5. Promotes cardiac
myocyte enlargement. Required during testicular development

Gene Wiki entry for GATA4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NT_077531.5  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GATA4 gene promoter:
         E2F-4   PPAR-alpha   C/EBPbeta   E2F   MyoD   Sox9   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGATA4 promoter sequence
   Search Chromatin IP Primers for GATA4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GATA4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p23.1-p22   Ensembl cytogenetic band:  8p23.1   HGNC cytogenetic band: 8p23.1-p22

GATA4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GATA4 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P011599:  view genomic region     (about GC identifiers)

Start:
11,534,468 bp from pter      End:
11,617,511 bp from pter
Size:
83,044 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: GATA4_HUMAN, P43694 (See protein sequence)
Recommended Name: Transcription factor GATA-4  
Size: 442 amino acids; 44565 Da
Subunit: Interacts with ZNF260 (By similarity). Interacts with the homeobox domain of NKX2-5 through its
C-terminal zinc finger. Also interacts with JARID2 which represses its ability to activate transcription of ANF.
Interacts with NFATC4 and LMCD1 (By similarity). Forms a complex made of CDK9, CCNT1/cyclin-T1, EP300 and GATA4
that stimulates hypertrophy in cardiomyocytes. Interacts with NR5A1 and ZFPM2
1 PDB 3D structure from and Proteopedia for GATA4:
2M9W (3D)    
Secondary accessions: B7ZKX0 Q3MJ45 Q5IFM8

Explore the universe of human proteins at neXtProt for GATA4: NX_P43694

Explore proteomics data for GATA4 at MOPED

Post-translational modifications: 

  • Methylation at Lys-300 attenuates transcriptional activity (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GATA4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002043.2  
    ENSEMBL proteins: 
     ENSP00000435043   ENSP00000473671   ENSP00000473598   ENSP00000435347   ENSP00000334458  
     ENSP00000432278   ENSP00000435712  
    Reactome Protein details: P43694

    GATA4 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for GATA4

     
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    antibodies-online proteins for GATA4 (8 products) 

     
    antibodies-online peptides for GATA4

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    GATA4 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GATAD: GATA zinc finger domain containing

    5 InterPro protein domains:
     IPR000679 Znf_GATA
     IPR016375 TF_GATA_4/5/6
     IPR013088 Znf_NHR/GATA
     IPR008013 GATA_N
     IPR028436 TF_GATA_4

    Graphical View of Domain Structure for InterPro Entry P43694

    ProtoNet protein and cluster: P43694

    2 Blocks protein domains:
    IPB000679 Zn-finger
    IPB008013 GATA-type transcription activator


    UniProtKB/Swiss-Prot: GATA4_HUMAN, P43694
    Similarity: Contains 2 GATA-type zinc fingers


    Find genes that share domains with GATA4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GATA4_HUMAN, P43694
    Function: Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in
    cardiac development. Acts as a transcriptional activator of ANF in cooperation with NKX2-5. Promotes cardiac
    myocyte enlargement. Required during testicular development

         Genatlas biochemistry entry for GATA4:
    transcription factor,GATA sequence binding protein,involved in lineage determination,expressed in
    heart,gut,primitive endoderm,gonads,maybe involvedd in heart defects in patients with a deletion del8 (p213)

         Gene Ontology (GO): Selected molecular function terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000977RNA polymerase II regulatory region sequence-specific DNA binding IEA--
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity ----
    GO:0001076RNA polymerase II transcription factor binding transcription factor activity IDA--
    GO:0001158enhancer sequence-specific DNA binding IEA--
    GO:0003677DNA binding ISS--
         
    Find genes that share ontologies with GATA4           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for GATA4:
     Increased G2M DNA content 

         Selected MGI mutant phenotypes (inferred from 15 alleles(MGI details for Gata4) (see all 18):
     cardiovascular system  cellular  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  homeostasis/metabolism  integument  liver/biliary system 
     mortality/aging  muscle  nervous system  no phenotypic analysis  normal 

    Find genes that share phenotypes with GATA4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GATA4: Gata4tm1Jml Gata4tm1.2Sad Gata4tm1Eno Gata4tm1.2Wtp

       genOway: Develop your customized and physiologically relevant rodent model for GATA4

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  NBWGATAAGR 

    miRNA
    Products:
        
    miRTarBase miRNAs that target GATA4:
    hsa-mir-200b-3p (MIRT004008), hsa-mir-1 (MIRT000393), hsa-mir-34a-5p (MIRT047394)

    Block miRNA regulation of human, mouse, rat GATA4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GATA4 (see all 30):
    hsa-miR-429 hsa-miR-548v hsa-miR-575 hsa-miR-221 hsa-miR-1297 hsa-miR-499-5p hsa-miR-208a hsa-miR-208b
    SwitchGear 3'UTR luciferase reporter plasmidGATA4 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for GATA4
    Predesigned siRNA for gene silencing in human, mouse, rat GATA4

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GATA4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GATA4
    Addgene plasmids for GATA4 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for GATA4 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GATA4

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-14315 VA6-14314) for GATA4 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GATA4_HUMAN, P43694: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton2
    extracellular2
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS12845333
    GO:0005654nucleoplasm TAS--

    Find genes that share ontologies with GATA4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GATA4 About   (see all 23)  
    See pathways by source

    SuperPathContained pathways About
    1Incretin Synthesis, Secretion, and Inactivation
    Incretin Synthesis, Secretion, and Inactivation0.88
    Synthesis, Secretion, and Inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)0.00
    2NFAT and Cardiac Hypertrophy
    NFAT and Cardiac Hypertrophy0.42
    Signaling Involved in Cardiac Hypertrophy0.42
    3GPCR Pathway
    NFAT in Immune Response0.58
    4Human Embryonic Stem Cell Pluripotency
    Factors Promoting Cardiogenesis in Vertebrates0.50
    5DREAM Repression and Dynorphin Expression
    BMP Pathway0.44


    Find genes that share SuperPaths with GATA4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GATA4 (see all 9)
        Factors Promoting Cardiogenesis in Vertebrates
    NFAT and Cardiac Hypertrophy
    Signaling Involved in Cardiac Hypertrophy
    Thrombin Signaling
    BMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for GATA4
        Development Endothelin-1/EDNRA signaling

    Selected BioSystems Pathways for GATA4 (see all 7)
        MicroRNAs in cardiomyocyte hypertrophy
    Heart Development
    Adipogenesis
    Serotonin Receptor 2 and ELK-SRF/GATA4 signaling
    Cardiac Progenitor Differentiation

    2 Reactome Pathways for GATA4
        Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
    Factors involved in megakaryocyte development and platelet production


    1 Kegg Pathway  (Kegg details for GATA4):
        Thyroid hormone signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GATA4: 
              Polycomb & Trithorax Target Genes in human mouse rat
              Embryonic Stem Cells in human mouse rat
              T Helper Cell Differentiation in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GATA4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GATA4 (P436941, 2, 3 ENSP000003344584) via UniProtKB, MINT, STRING, and/or I2D (see all 156)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KLF13Q9Y2Y91, 2, 3, ENSP000003024564EBI-7049352,EBI-1255893 MINT-3379492 MINT-3379533 MINT-3379514 I2D: score=1 STRING: ENSP00000302456
    ENSG00000206481Q146763, ENSP000003730604I2D: score=1 STRING: ENSP00000373060
    ENSG00000224587Q146763I2D: score=1 
    ENSG00000225589Q146763I2D: score=1 
    ENSG00000228575Q146763I2D: score=1 
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    Gene Ontology (GO): Selected biological process terms (see all 58):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0001702gastrulation with mouth forming second IEA--
    GO:0001706endoderm formation IEA--
    GO:0001947heart looping ISS--
    GO:0003181atrioventricular valve morphogenesis IEA--

    Find genes that share ontologies with GATA4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GATA4

    Selected Novoseek inferred chemical compound relationships for GATA4 gene (see all 25)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    azathioprine 51.9 3 19253817 (1), 19246878 (1)
    zinc 51.7 35 11842118 (4), 17290010 (2), 9312027 (1), 12439631 (1) (see all 23)
    5-aza-2'deoxycytidine 46.9 3 16607277 (1), 16823849 (1), 14988427 (1)
    retinoic acid 35.3 10 18439490 (3), 10677255 (1), 11518699 (1), 15542856 (1) (see all 7)
    vitamin a 20.1 2 10677255 (1), 9986733 (1)
    retinoid 17 1 9986733 (1)
    glycogen 14.5 1 11382772 (1)
    dmso 11.1 4 16508137 (1), 16960874 (1), 19785986 (1)
    testosterone 9.83 5 11061558 (2), 14681544 (1), 11097782 (1), 18212046 (1)
    doxorubicin 3.53 4 16449733 (2), 18083897 (1), 17334414 (1)

    1 PharmGKB related drug/compound annotation for GATA4 gene    About this table
    Drug/compound PharmGKB Annotation
    Drugs used in alcohol dependenceCA  



    Find genes that share compounds with GATA4           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GATA4 gene: 
    NM_002052.3  

    Unigene Cluster for GATA4:

    GATA binding protein 4
    Hs.243987  [show with all ESTs]
    Unigene Representative Sequence: NM_002052
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000528712(uc003wub.1) ENST00000532977 ENST00000526974 ENST00000526716
    ENST00000335135(uc011kxb.1 uc010lrz.1 uc003wuc.2 uc011kxc.1)
    ENST00000528027 ENST00000532059 ENST00000526021
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    hsa-miR-429 hsa-miR-548v hsa-miR-575 hsa-miR-221 hsa-miR-1297 hsa-miR-499-5p hsa-miR-208a hsa-miR-208b
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    GenScript: all cDNA clones in your preferred vector: GATA4 (NM_002052)
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    Addgene plasmids for GATA4 
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      QuantiTect SYBR Green Assays in human, mouse, rat GATA4
      QuantiFast Probe-based Assays in human, mouse, rat GATA4
    Flow Cytometry
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    Additional mRNA sequence: 

    AF180736.1 AF318320.1 AK097060.1 AY740706.1 BC033672.1 BC068079.1 BC101580.1 BC105108.1 
    BC143434.1 BC143479.1 D78260.1 FJ169610.1 L34357.1 

    4 DOTS entries:

    DT.97840387  DT.452800  DT.306804  DT.95371365 

    Selected AceView cDNA sequences (see all 105):

    AI187315 AI809988 AI218020 BF513628 AW087784 BC033672 BE672057 CA776901 
    BQ685606 NM_002052 BF058124 BE502232 AI218830 CR609988 BM931880 AL572860 
    BM560562 BQ188599 AI951671 BF514120 BG211220 AA812789 BF509043 BG201823 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GATA4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGACTCCTT
    GATA4 Expression
    About this image


    GATA4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 28) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 26 entries
             Atrioventricular Valve Cells Atrioventricular Valves
             Outflow Tract
             Cardiac progenitor cells (c-kit+)
             Beating embryoid bodies
     
     NULL (Uncategorized)    fully expand to see all 10 entries
             Cardiomyocyte precursor cells
     
     Hypoblast (Extraembryonic Tissues)    fully expand to see all 3 entries
             Hypoblast Cells Hypoblast
             Extraembryonic endoderm-like cells
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Peripheral blood-derived hematopoietic stem cells
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)    fully expand to see all 3 entries
             Pre-myocardial Cells Cardiogenic Mesoderm
    GATA4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GATA4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.243987
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GATA4: 
              Polycomb & Trithorax Target Genes in human mouse rat
              Embryonic Stem Cells in human mouse rat
              T Helper Cell Differentiation in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat GATA4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GATA4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for GATA4 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gata41 , 5 GATA binding protein 41, 5 87.44(n)1
    92.69(a)1
      14 (33.24 cM)5
    144631  NM_008092.31  NP_032118.21 
     631989225 
    chicken
    (Gallus gallus)
    Aves GATA41 GATA binding protein 4 71.75(n)
    74.25(a)
      396392  XM_420041.2  XP_420041.1 
    lizard
    (Anolis carolinensis)
    Reptilia GATA46
    GATA binding protein 4
    66(a)
    1 ↔ 1
    GL343704.1(169209-230331)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.10612 Xenopus laevis transcription factor xGATA-4 mRNA, complete more 75.1(n)    U45453.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gata42 GATA-binding protein 4 75.88(n)   30483  AF191577.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta grn3 histogenesis RNA polymerase II
    transcription factor
    80(a)
    (best of 2)
      3 84F1   --


    ENSEMBL Gene Tree for GATA4 (if available)
    TreeFam Gene Tree for GATA4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GATA4 gene
    GATA62  GATA32  GATA22  GATA12  GATA52  TRPS12  
    7 SIMAP similar genes for GATA4 using alignment to 19 protein entries:     GATA4_HUMAN (see all proteins):
    pp10443    GATA5    GATA6    GATA1    GATA2    GATA3
    GATA-4

    Find genes that share paralogs with GATA4           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GATA4 (see all 1455)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1999229071,2,,4
    Ventricular septal defect 1 (VSD1)4 --11789380(+) CTTGGC/TCATGG 2 A V mis10--------
    rs1153725951,2,,4
    C,FAtrioventricular septal defect 4 (AVSD4)4 --11838026(+) CGGTGC/TTTCCA 2 A V mis13Minor allele frequency- T:0.00NA EU 6035
    rs1150991921,2,,4
    C,FVentricular septal defect 1 (VSD1)4 --11839418(+) CTCCCC/AACAAG 2 /Q /P mis12Minor allele frequency- A:0.01EA 414
    VAR_0676234
    Ventricular septal defect 1 (VSD1)4--see VAR_0676232 A V mis40--------
    VAR_0676144
    Atrial septal defect 2 (ASD2)4--see VAR_0676142 M V mis40--------
    VAR_0676114
    Atrial septal defect 2 (ASD2)4--see VAR_0676112 T M mis40--------
    VAR_0676174
    Ventricular septal defect 1 (VSD1)4--see VAR_0676172 E K mis40--------
    VAR_0706704
    Testicular anomalies with or without congenital heart disease (TACHD)4--see VAR_0706702 G R mis40--------
    VAR_0676064
    Ventricular septal defect 1 (VSD1)4--see VAR_0676062 R W mis40--------
    VAR_0676214
    Atrial septal defect 2 (ASD2)4--see VAR_0676212 D N mis40--------

    HapMap Linkage Disequilibrium report for GATA4 (11534468 - 11617511 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for GATA4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2674198CNV Deletion23128226
    esv2736610CNV Deletion23290073
    nsv6079CNV Loss18451855
    nsv890359CNV Loss21882294
    nsv471715CNV Loss16327809

    Human Gene Mutation Database (HGMD): GATA4
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing GATA4:
    Birth Defects
    SeqTarget long-range PCR primers for resequencing GATA4
    DNA2.0 Custom Variant and Variant Library Synthesis for GATA4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600576   
    OMIM disorders: 607941  614429  614430  615542  
    UniProtKB/Swiss-Prot: GATA4_HUMAN, P43694
  • Atrial septal defect 2 (ASD2) [MIM:607941]: A congenital heart malformation characterized by incomplete
    closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show
    other heart abnormalities including ventricular and atrioventricular septal defects, pulmonary valve thickening
    or insufficiency of the cardiac valves. The disease is not associated with defects in the cardiac conduction
    system or non-cardiac abnormalities. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Ventricular septal defect 1 (VSD1) [MIM:614429]: A common form of congenital cardiovascular anomaly that
    may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular
    septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based
    on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular,
    marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac
    enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain
    development, arrhythmias, and even sudden cardiac death. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Tetralogy of Fallot (TOF) [MIM:187500]: A congenital heart anomaly which consists of pulmonary stenosis,
    ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and
    hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor)
    is pumped into the body often causing cyanosis. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Atrioventricular septal defect 4 (AVSD4) [MIM:614430]: A congenital heart malformation characterized by a
    common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves
    underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve
    itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by
    separate atrioventricular valvar orifices despite a common junction. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Testicular anomalies with or without congenital heart disease (TACHD) [MIM:615542]: A 46,XY disorder of
    sex development with variable clinical presentation and defects in testicular differentiation and function.
    Clinical features include ambiguous genitalia, fused labioscrotal folds, hypospadias, microphallus, and bilateral
    inguinal hernia containing gonads. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • Selected diseases for GATA4 (see all 27):    
    About MalaCards
    pyromania    testicular anomalies with or without congenital heart disease    atrioventricular septal defect 4    atrial septal defect 2
    complete atrioventricular canal - ventricle hypoplasia    complete atrioventricular canal - left heart obstruction    8p23.1 duplication syndrome    complete atrioventricular canal - fallot tetralogy
    ventricular septal defect 1    chromosome 8p23.1 deletion    tetrology of fallot    atrioventricular septal defect
    partial atrioventricular canal    holoprosencephaly-7    congenital heart disease    ventricular septal defect
    single ventricular septal defect    ovarian germ cell tumor    ebstein anomaly    patent foramen ovale

    5 diseases from the University of Copenhagen DISEASES database for GATA4:
    Congenital heart defect     Heart disease     Pyromania     Congenital diaphragmatic hernia
    Embryonal carcinoma

    Find genes that share disorders with GATA4           About GenesLikeMe

    Selected Novoseek inferred disease relationships for GATA4 gene (see all 35)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    septal defect 63.7 21 12845333 (4), 19915893 (4), 19781215 (4), 18055909 (3) (see all 8)
    cardiac hypertrophy 60.1 15 15249177 (2), 18005871 (1), 18036354 (1), 14761664 (1) (see all 11)
    heart defects congenital 57.2 10 16604480 (2), 16077733 (1), 18305343 (1), 10096597 (1) (see all 8)
    adrenal tumor 53.3 7 15256532 (2), 14666170 (2), 17207921 (1), 10449810 (1) (see all 5)
    congenital heart disease 52 21 10096597 (6), 17592645 (2), 18672102 (2), 15249177 (1) (see all 13)
    atrial septal defects 51.7 18 19678963 (4), 18305343 (2), 14557051 (2), 15810002 (2) (see all 9)
    ventricular septal defects 49.6 3 19915893 (1), 19302747 (1)
    hypertrophy 48.4 9 11739382 (2), 15220332 (1), 15574430 (1), 18204489 (1) (see all 8)
    atrioventricular septal defect 43.3 1 17592645 (1)
    cardiomyopathy 36.5 3 10677255 (1), 17643447 (1), 12231398 (1)

    Genetic Association Database (GAD): GATA4
    Human Genome Epidemiology (HuGE) Navigator: GATA4 (25 documents)

    Export disorders for GATA4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for GATA4 gene, integrated from 10 sources (see all 407):
    (articles sorted by number of sources associating them with GATA4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Spectrum of heart disease associated with murine and human GATA4 mutation. (PubMed id 17643447)1, 2, 4, 9 Rajagopal S.K.... Pu W.T. (J. Mol. Cell. Cardiol. 2007)
    2. GATA4 mutations in 486 Chinese patients with congenital heart disease. (PubMed id 18672102)1, 2, 4, 9 Zhang W.... Li Z. (Eur. J. Med. Genet. 2008)
    3. GATA4 sequence variants in patients with congenital heart disease. (PubMed id 18055909)1, 2, 4, 9 Tomita-Mitchell A.... Goldmuntz E. (J. Med. Genet. 2007)
    4. Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease. (PubMed id 17352393)1, 4, 9 Schluterman M.K....Garg V. (Am. J. Med. Genet. A 2007)
    5. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. (PubMed id 12845333)1, 2, 9 Garg V.... Srivastava D. (Nature 2003)
    6. GATA4 and NKX2.5 gene analysis in Chinese Uygur patients with congenital heart disease. (PubMed id 19302747)1, 4, 9 Zhang W.M....Li Z.Z. (Chin. Med. J. 2009)
    7. Assignment of the transcription factor GATA4 gene to human chromosome 8 and mouse chromosome 14: Gata4 is a candidate gene for Ds (disorganization). (PubMed id 7665171)1, 3, 9 White R.A....Wilson D.B. (Genomics 1995)
    8. GATA4 mutations in Chinese patients with congenital cardiac septal defects. (PubMed id 19915893)1, 4, 9 Chen M.W....Liu T.W. (Pediatr Cardiol 2010)
    9. Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects. (PubMed id 19678963)1, 4, 9 Hamanoue H....Matsumoto N. (Cardiol Young 2009)
    10. Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. (PubMed id 15810002)1, 2, 9 Hirayama-Yamada K....Matsuoka R. (Am. J. Med. Genet. A 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 2626 HGNC: 4173 AceView: GATA4 Ensembl:ENSG00000136574 euGenes: HUgn2626
    ECgene: GATA4 Kegg: 2626 H-InvDB: GATA4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for GATA4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GATA4[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GATA4 gene:
    Search GeneIP for patents involving GATA4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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