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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GATA4 Gene

protein-coding   GIFtS: 67
GCID: GC08P011599

GATA binding protein 4

(Previous name: GATA-binding protein 4 )
 Explore 50 diseases affiliated with
GATA4 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GATA4    

Aliases
for GATA4 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
GATA Binding Protein 41 2
GATA-Binding Factor 42 3
GATA-Binding Protein 41
ASD22
VSD12
Transcription Factor GATA-42

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


Summaries
for GATA4 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for GATA4:
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)

UniProtKB/Swiss-Prot: GATA4_HUMAN, P43694
Function: Transcriptional activator. Binds to the consensus sequence 5'-AGATAG-3'. Acts as a transcriptional activator
of ANF in cooperation with NKX2-5 (By similarity). Promotes cardiac myocyte enlargement

Gene Wiki entry for GATA4


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_077531.4  
Regulatory elements:
   SABiosciences 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 plasmid: GATA4 promoter sequence
   Search SABiosciences Chromatin IP Primers for GATA4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for GATA4 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Nucleus
Secondary accessions: B7ZKX0 Q3MJ45 Q5IFM8

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

Post-translational modifications:

  • Methylation at Lys-300 attenuates transcriptional activity (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P43694

    • GATA4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002043.2  
    ENSEMBL proteins: 
     ENSP00000435043   ENSP00000435347   ENSP00000334458   ENSP00000432278   ENSP00000435712  
    Reactome Protein details: P43694
    Human Recombinant Protein Products: 
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    Novus Biologicals GATA4 Protein
    Novus Biologicals GATA4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for GATA4

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    GATA4 for ontologies           About GeneDecksing



    GATA4 Antibody Products: 
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    ThermoFisher Antibodies for GATA4

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    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for GATA4

    Protein Domains /
    Families
    for GATA4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GATA4 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR000679 Znf_GATA
     IPR016375 TF_GATA_4/5/6
     IPR013088 Znf_NHR/GATA
     IPR008013 GATA_N

    Graphical View of Domain Structure for InterPro Entry P43694

    ProtoNet protein and cluster: P43694

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


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


    Function
    for GATA4 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: GATA4_HUMAN, P43694
    Function: Transcriptional activator. Binds to the consensus sequence 5'-AGATAG-3'. Acts as a transcriptional activator
    of ANF in cooperation with NKX2-5 (By similarity). Promotes cardiac myocyte enlargement

         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)

    miRNA
    Products:            		miRTarBase miRNAs that target GATA4:
    hsa-mir-200b (MIRT004008), hsa-mir-1 (MIRT000393)

    OriGene 3'-UTR Clone: GATA4
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GATA4
    8/30 QIAGEN miScript miRNA 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 plasmid: GATA4 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GATA4 (see all 7)
    OriGene shRNA RFP: GATA4
    OriGene siRNA: GATA4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GATA4

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for GATA4

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GATA4 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GATA4
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: GATA4 (NM_002052)
    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 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for GATA4
    Search LifeMap BioReagents cell lines for GATA4

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GATA4

    Gene Ontology (GO): 5/17 molecular function terms (GO ID links to tree view) (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--


    GATA4 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for GATA4:
     Increased G2M DNA content 

    Animal Models:
         Mouse knock-outs for GATA4: Gata4tm1Jml Gata4tm1.2Sad Gata4tm1Eno Gata4tm1.2Wtp
         15/18 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  hematopoietic system  homeostasis/metabolism  integument  liver/biliary system 
     mortality/aging  muscle  nervous system  no phenotypic analysis  normal 

    GATA4 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for GATA4 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/17 super-pathways (see all 17) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1NFAT and Cardiac Hypertrophy
    		NFAT and Cardiac Hypertrophy1.00
    		Signaling Involved in Cardiac Hypertrophy0.42
    2Development_Endothelin-1/EDNRA transactivation of EGFR
    		Development Endothelin-1/EDNRA signaling0.41
    		Development_Endothelin-1/EDNRA signaling0.41
    3Factors involved in megakaryocyte development and platelet production
    		Factors involved in megakaryocyte development and platelet production1.00
    4Transcription factors in neurogenesis
    		Transcription factors in neurogenesis1.00
    5Cardiomyocyte Differentiation through BMP Receptors
    		Cardiomyocyte Differentiation through BMP Receptors1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for GATA4
        Transcription factors in neurogenesis
    Development Endothelin-1/EDNRA signaling

    5/9 Downloadable PowerPoint Slides of QIAGEN 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

    5 BioSystems Pathways for GATA4 
        Heart Development
    Adipogenesis
    MicroRNAs in cardiomyocyte hypertrophy
    Serotonin Receptor 2 and ELK-SRF/GATA4 signaling
    Notch-mediated HES/HEY network

    2        Reactome Pathways for GATA4
        Hemostasis
    Factors involved in megakaryocyte development and platelet production



    GATA4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GATA4

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

    5/54 Interacting proteins for GATA4 (P436942, 3 ENSP000003344584) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KLF13Q9Y2Y92, 3, ENSP000003024564MINT-3379492 MINT-3379533 MINT-3379514 I2D: score=1 STRING: ENSP00000302456
    MED1Q156483, ENSP000003006514I2D: score=5 STRING: ENSP00000300651
    NKX2-5P529523, ENSP000003277584I2D: score=5 STRING: ENSP00000327758
    JARID2Q928333, ENSP000003412804I2D: score=4 STRING: ENSP00000341280
    SRFP118313, ENSP000002653544I2D: score=3 STRING: ENSP00000265354
    About this table

    Gene Ontology (GO): 5/56 biological process terms (GO ID links to tree view) (see all 56):    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--


    GATA4 for ontologies           About GeneDecksing



    Drugs & Compounds
    for GATA4 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GATA4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GATA4
    10/25 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about GATA4 

    Transcripts
    for GATA4 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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

    miRNA
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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
    SwitchGear 3'UTR luciferase reporter plasmid: GATA4 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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 

    24/105 AceView cDNA sequences (see all 105):

    AI218020 AI809988 BF058124 AI218830 BM931880 BE502232 CA776901 BC033672 
    BE672057 BQ685606 AW087784 BF513628 NM_002052 AI187315 CR609988 BF058235 
    AW181962 BM560562 BQ439274 BF058059 BF196317 AF318320 BG211220 BU194442 

    GeneLoc Exon Structure


    Expression
    for GATA4 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GATA4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGACTCCTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    GATA4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/38 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 38) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular ValvesAtrioventricular Valve CellsEndocardium, Myocardium
    HeartCardiac CrescentCardiac Crescent CellsMyocardium
    HeartInflow TractInflow ProgenitorsMyocardium
    HeartLeft AtriumCardiomyocytesMyocardium
    HeartMyocardiumCardiomyocytesMyocardium
    HeartMyocardiumCardiomyocytes Progenitor CellsMyocardium
    HeartOutflow TractCardiomyocytesMyocardium
    HeartRight AtriumCardiomyocytesMyocardium
    HypoblastHypoblastHypoblast CellsExtraembryonic Tissues
    Lateral Plate MesodermCardiogenic MesodermPre-myocardial CellsMyocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/19 LifeMap Cells (see all 19) 
    NameCategory
    Extra-embryonic endoderm cells (Fetal Stem / Progenitor Cell)Extraembryonic Tissues
    Primitive Streak Mesendoderm cells (Direct differentiati...)
    Endoderm progenitor-like cells (Generation and expan...)
    Primitive gut tube-like cells (A scalable, suspensi...)
    Definitive endoderm-like cells (A scalable, suspensi...)
    Extraembryonic endoderm-like cells (Generation of extrae...)
    Beating embryoid bodies (Cardiac differentiat...)
    BMP4-induced embryoid bodies (Cardiac differentiat...)
    Cardiomyocyte-like cells (Spontaneous differen...)
    Endoderm-like cells (Functional hepatocyt...)

    See GATA4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GATA4

    SOURCE GeneReport for Unigene cluster: Hs.243987
        SABiosciences Expression via Pathway-Focused 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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    QIAGEN 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
    for GATA4 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for GATA4 gene from 5/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves GATA41 GATA binding protein 4 72.69(n)
    75(a)    		   396392  XM_420041.1  XP_420041.1 
    lizard
    (Anolis carolinensis)    		 Reptilia GATA46
    		 --
    		 63(a)
    		 1 ↔ 1
    		 GL343704.1(169209-229380)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.10612 Xenopus laevis transcription factor xGATA-4 mRNA, complete cds less 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 less    		 80(a)
    (best of 2)    		   3 84F1   --


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

    Paralogs
    for GATA4 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GATA4 gene
    GATA62  GATA32  GATA22  GATA12  GATA52  
    7 SIMAP similar genes for GATA4 using alignment to 18 protein entries:     GATA4_HUMAN (see all proteins):
    pp10443    GATA1    GATA5    GATA6    GATA2    GATA3
    GATA-4

    GATA4 for paralogs           About GeneDecksing



    Genomic Variants
    for GATA4 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1228 NCBI SNPs in GATA4 are shown (see all 1228)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs562083311,2
    		C,pathogenic11429662(+) AGCAGG/AACTCT 2 /N /D mis11Minor allele frequency- A:0.01NA 214
    rs562985691,2
    		Cpathogenic11432999(+) GGATCC/GAAACC 2 Q E mis10--------
    rs1048940731,2
    		Cpathogenic11437868(+) CCTGCA/GGCCTC 2 S G mis10--------
    rs1048940741,2
    		Cpathogenic11479609(+) CCTGTC/TCTACC 2 S F mis10--------
    rs604190431,2
    		C,--10490824(+) CGGGTA/GGCGCT 1 -- us2k12Minor allele frequency- G:0.20WA 120
    rs787846561,2
    		C,--10491025(+) CGCTGA/CGTCCG 1 -- us2k12Minor allele frequency- C:0.11WA 120
    rs743191351,2
    		F,--10491117(+) TAAGTT/CCCCAC 1 -- us2k11Minor allele frequency- C:0.08WA 118
    rs732034801,2
    		C,--10491133(+) GGGTCC/AGTGGC 1 -- us2k12Minor allele frequency- A:0.06NA 122
    rs1127185161,2
    		C,--10491922(+) CTCCAT/CGAAGA 1 -- us2k12Minor allele frequency- C:0.07NA 122
    rs735378691,2
    		C,--10492009(+) AAAAAG/AGGGGA 1 -- us2k12Minor allele frequency- A:0.11WA 120

    HapMap Linkage Disequilibrium report for GATA4 (11534468 - 11617511 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 17 variations for GATA4
         1 Indel: 10904
         15/16 Inversions (see all 16): 37318 37316 37307 37317 37311 37319 37320 37315 37312 37321 37304 37313 37314 37305 37306
    Human Gene Mutation Database (HGMD): GATA4

    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing GATA4:
    Birth Defects
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GATA4
    DNA2.0 Custom Variant and Variant Library Synthesis for GATA4

    Disorders / Diseases
    for GATA4 gene

    (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.)
    About This Section
    GATA4 for disorders           About GeneDecksing

    OMIM gene information: 600576   
    OMIM disorders: 607941  
    UniProtKB/Swiss-Prot: GATA4_HUMAN, P43694
  • Defects in GATA4 are the cause of atrial septal defect type 2 (ASD2) [MIM:607941]. ASD2 is 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. ASD2 patients show other heart abnormalities including ventricular and atrioventricular septal
    defects, pulmonary valve thickening or insufficiency of the cardiac valves. ASD2 is not associated with defects in the
    cardiac conduction system or non-cardiac abnormalities
  • Defects in GATA4 are a cause of ventricular septal defect type 1 (VSD1) [MIM:614429]. VSD1 is 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
  • Defects in GATA4 are a cause of tetralogy of Fallot (TOF) [MIM:187500]. TOF is 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
  • Defects in GATA4 are the cause of atrioventricular septal defect type 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

    20/50 diseases for GATA4 (see all 50):    About MalaCards
    double outlet right ventricle    noncompaction of left ventricular myocardium    atrioventricular septal defect    atrial septal defect-2
    ventricular septal defect    diffuse large b-cell lymphoma    doxorubicin induced cardiomyopathy    transposition of great arteries
    ebstein anomaly    congenital diaphragmatic hernia    b-cell lymphomas    sex reversal
    tumors of adrenal cortex    germ cell tumor    congenital heart defect    ovarian germ cell tumor
    tetralogy of fallot    atrial fibrillation    pancreatic ductal adenocarcinoma    coronary heart disease

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

    10/35 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: GATA4 (25 documents)

    Export disorders for GATA4 gene to outside databases

    Publications
    for GATA4 gene

    (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

    PubMed articles for GATA4 gene, integrated from 9 sources (see all 390):
    (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, 9 Rajagopal S.K....Pu W.T. (2007)
    2. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. (PubMed id 12845333)1, 2, 9 Garg V.... Srivastava D. (2003)
    3. GATA4 mutations in 486 Chinese patients with congenital heart disease. (PubMed id 18672102)1, 2, 9 Zhang W....Li Z. (2008)
    4. GATA4 sequence variants in patients with congenital heart disease. (PubMed id 18055909)1, 2, 9 Tomita-Mitchell A....Goldmuntz E. (2007)
    5. 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. (1995)
    6. Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. (PubMed id 15810002)1, 2, 9 Hirayama-Yamada K....Matsuoka R. (2005)
    7. Identification of a GATA motif in the cardiac alpha-myosin heavy- chain-encoding gene and isolation of a human GATA-4 cDNA. (PubMed id 7721094)1, 2, 9 Huang W.Y.... Liew C.C. (1995)
    8. Cyclin-dependent kinase-9 is a component of the p300/ GATA4 complex required for phenylephrine-induced hypertrophy in cardiomyocytes. (PubMed id 20081228)1, 2, 9 Sunagawa Y....Hasegawa K. (2010)
    9. A novel GATA4 loss-of-function mutation associated with congenital ventricular septal defect. (PubMed id 22101736)1, 2 Yang Y.Q.... Fang W.Y. (2012)
    10. A novel GATA4 mutation responsible for congenital ven tricular septal defects. (PubMed id 21637914)1, 2 Wang J....Yang Y.Q. (2011)

    External Searches for GATA4 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing GATA4 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2626 HGNC: 4173 AceView: GATA4 Ensembl:ENSG00000136574 euGenes: HUgn2626
    ECgene: GATA4 H-InvDB: GATA4

    Other Databases showing GATA4 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GATA4 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GATA4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GATA4

    Intellectual Property
    for GATA4 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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