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GATA6 Gene

protein-coding   GIFtS: 64
GCID: GC18P019749

GATA Binding Protein 6

(Previous name: GATA-binding protein 6)
  See GATA6-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 61 2     ASD95
GATA-Binding Factor 62 3     AVSD55
GATA-Binding Protein 61     PACHD5
Transcription Factor GATA-62     

External Ids:    HGNC: 41741   Entrez Gene: 26272   Ensembl: ENSG000001414487   OMIM: 6016565   UniProtKB: Q929083   

Export aliases for GATA6 gene to outside databases

Previous GC identifers: GC18P019625 GC18P019481 GC18P018003 GC18P018001 GC18P016596


(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 GATA6 Gene:
This gene is a member of a small family of zinc finger transcription factors that play an important role in the
regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed
during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and
thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with
several congenital defects. (provided by RefSeq, Mar 2012)

GeneCards Summary for GATA6 Gene:
GATA6 (GATA binding protein 6) is a protein-coding gene. Diseases associated with GATA6 include atrial septal defect 9, and ovarian germ cell tumor. GO annotations related to this gene include protein kinase binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is GATA4.

UniProtKB/Swiss-Prot: GATA6_HUMAN, Q92908
Function: Transcriptional activator that regulates SEMA3C and PLXNA2. Thought to be important for regulating
terminal differentiation and/or proliferation

Gene Wiki entry for GATA6 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_000018.9  NT_010966.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GATA6 gene promoter:
         AREB6   Nkx2-5   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGATA6 promoter sequence
   Search Chromatin IP Primers for GATA6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GATA6


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

Entrez Gene cytogenetic band: 18q11.1-q11.2   Ensembl cytogenetic band:  18q11.2   HGNC cytogenetic band: 18q11-q12

GATA6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GATA6 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P019749:  view genomic region     (about GC identifiers)

Start:
19,749,404 bp from pter      End:
19,782,491 bp from pter
Size:
33,088 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: GATA6_HUMAN, Q92908 (See protein sequence)
Recommended Name: Transcription factor GATA-6  
Size: 595 amino acids; 60033 Da
Subunit: Interacts with LMCD1 (By similarity)
Secondary accessions: B0YJ17 P78327
Alternative initiation: 2 isoforms:  Q92908-1   Q92908-2   (Produced by alternative initiation at Met-147 of isoform 1)

Explore the universe of human proteins at neXtProt for GATA6: NX_Q92908

Explore proteomics data for GATA6 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GATA6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005248.2  
    ENSEMBL proteins: 
     ENSP00000269216   ENSP00000462313  
    Reactome Protein details: Q92908

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    antibodies-online proteins for GATA6 (6 products) 

     
    antibodies-online peptides for GATA6

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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

    4 InterPro protein domains:
     IPR000679 Znf_GATA
     IPR013088 Znf_NHR/GATA
     IPR028437 TF_GATA_6
     IPR008013 GATA_N

    Graphical View of Domain Structure for InterPro Entry Q92908

    ProtoNet protein and cluster: Q92908

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


    UniProtKB/Swiss-Prot: GATA6_HUMAN, Q92908
    Domain: The GATA-type zinc fingers mediate interaction with LMCD1 (By similarity)
    Similarity: Contains 2 GATA-type zinc fingers


    Find genes that share domains with GATA6           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: GATA6_HUMAN, Q92908
    Function: Transcriptional activator that regulates SEMA3C and PLXNA2. Thought to be important for regulating
    terminal differentiation and/or proliferation

         Genatlas biochemistry entry for GATA6:
    regulatory transcriptional factor,GATA binding protein expressed in the developing heart,lung,gastrointestinal and
    gut derived tissues,not in the testis

         Gene Ontology (GO): Selected molecular function terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000979RNA polymerase II core promoter sequence-specific DNA binding IEA--
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity IMP--
    GO:0001103RNA polymerase II repressing transcription factor binding IEA--
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
         
    Find genes that share ontologies with GATA6           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for GATA6:
     Synthetic lethal with Ras 

         12 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Gata6):
     cardiovascular system  cellular  embryogenesis  growth/size/body  hematopoietic system 
     homeostasis/metabolism  limbs/digits/tail  liver/biliary system  mortality/aging  muscle 
     normal  respiratory system 

    Find genes that share phenotypes with GATA6           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GATA6: Gata6tm1Eno Gata6tm2.2Sad Gata6tm3.1Sad Gata6tm1Msp Gata6tm1Sad

       genOway: Develop your customized and physiologically relevant rodent model for GATA6

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    miRTarBase miRNAs that target GATA6:
    hsa-mir-181b-5p (MIRT000239), hsa-mir-181c-5p (MIRT000234), hsa-mir-20a-5p (MIRT050560), hsa-mir-92b-3p (MIRT040623), hsa-mir-140-5p (MIRT045826), hsa-mir-1 (MIRT005905), hsa-mir-128-3p (MIRT021891), hsa-mir-200a-3p (MIRT004006), hsa-mir-98-5p (MIRT027415), hsa-mir-375 (MIRT019691), hsa-mir-183-5p (MIRT047056), hsa-let-7b-5p (MIRT051882), hsa-mir-181a-5p (MIRT000244), hsa-mir-124-3p (MIRT022233)

    Block miRNA regulation of human, mouse, rat GATA6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GATA6 (see all 39):
    hsa-miR-200a hsa-miR-25 hsa-miR-128 hsa-miR-624* hsa-miR-141 hsa-miR-124 hsa-miR-4325 hsa-miR-2116
    SwitchGear 3'UTR luciferase reporter plasmidGATA6 3' UTR sequence
    Inhib. RNA
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    (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
    GATA6_HUMAN, Q92908: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton1
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA17785913
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IEA--

    Find genes that share ontologies with GATA6           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 GATA6 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1DREAM Repression and Dynorphin Expression
    BMP Pathway0.44
    2Hemostasis
    Hemostasis0.43
    3G-AlphaQ Signaling
    Thrombin Signaling0.40
    4Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch
    5Transcriptional Regulatory Network in Embryonic Stem Cell
    Transcriptional Regulatory Network in Embryonic Stem Cell


    Find genes that share SuperPaths with GATA6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GATA6
        BMP Pathway
    Transcriptional Regulatory Network in Embryonic Stem Cell
    Thrombin Signaling

    2 Cell Signaling Technology (CST) Pathways for GATA6
        Wnt / Hedgehog / Notch
    Lymphocyte Signaling

    2 BioSystems Pathways for GATA6
        Heart Development
    Notch-mediated HES/HEY network

    1 Reactome Pathway for GATA6
        Factors involved in megakaryocyte development and platelet production


        Pathway & Disease-focused RT2 Profiler PCR Arrays including GATA6: 
              Cell Lineage Identification in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Embryonic Stem Cells in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GATA6

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

    Selected Interacting proteins for GATA6 (Q929082, 3 ENSP000002692164) via UniProtKB, MINT, STRING, and/or I2D (see all 103)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KLF13Q9Y2Y92, 3, ENSP000003024564MINT-3379559 I2D: score=1 STRING: ENSP00000302456
    MED1Q156483, ENSP000003006514I2D: score=4 STRING: ENSP00000300651
    HHEXQ030143, ENSP000002827284I2D: score=1 STRING: ENSP00000282728
    KLF2Q9Y5W33, ENSP000002480714I2D: score=1 STRING: ENSP00000248071
    PPARAQ078693, ENSP000002627354I2D: score=1 STRING: ENSP00000262735
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 44):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA18177748
    GO:0001701in utero embryonic development IEA--
    GO:0001889liver development IEA--
    GO:0003148outflow tract septum morphogenesis IMP19666519
    GO:0003309type B pancreatic cell differentiation IEA--

    Find genes that share ontologies with GATA6           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 GATA6

    9 Novoseek inferred chemical compound relationships for GATA6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aza-2'deoxycytidine 46.6 2 16607277 (1), 14988427 (1)
    zinc 39.1 15 11733512 (3), 9784406 (2), 16199866 (1), 12446778 (1) (see all 8)
    retinoic acid 35.3 2 12734205 (2)
    dehydroepiandrosterone sulfate 33.6 1 12959982 (1)
    steroid 29.2 2 15388788 (1), 17785913 (1)
    dbc-amp 24.8 1 15721285 (1)
    butyrate 12.4 3 17167069 (2), 10675566 (1)
    cholesterol 1.81 3 12959982 (1), 18078765 (1)
    vitamin a 0 1 12734205 (1)



    Find genes that share compounds with GATA6           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 GATA6 gene: 
    NM_005257.4  

    Unigene Cluster for GATA6:

    GATA binding protein 6
    Hs.514746  [show with all ESTs]
    Unigene Representative Sequence: X95701
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000269216(uc002ktt.1 uc002ktu.1) ENST00000581694
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    Additional mRNA sequence: 

    AK223547.1 D87811.1 U66075.1 X95701.1 

    5 DOTS entries:

    DT.444908  DT.121084447  DT.121084469  DT.92003735  DT.95148706 

    Selected AceView cDNA sequences (see all 56):

    AW008285 BQ000719 AA476227 BP338346 AW242779 BC027891 BM850945 BI834020 
    NM_005257 BX384651 AI802689 W07635 CA314008 CR591851 H77652 CA775306 
    BM746307 BF513325 BF590459 W19304 CB267166 AI917745 N81132 BM811359 

    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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    GATA6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    GATA6 Expression
    About this image


    GATA6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 23) fully expand
     
     Hypoblast (Extraembryonic Tissues)    fully expand to see all 3 entries
             Hypoblast Cells Hypoblast
             Extraembryonic endoderm-like cells
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Cardiomyocytes Myocardium
             Cardiomyocyte-like cells
     
     Pancreas (Endocrine System)    fully expand to see all 9 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 6 entries
             Inner Cell Mass Cells Inner Cell Mass
     
     NULL (Uncategorized)    fully expand to see all 5 entries
             Intermediate mesoderm derivatives
    GATA6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GATA6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.514746

    UniProtKB/Swiss-Prot: GATA6_HUMAN, Q92908
    Tissue specificity: Expressed in heart, gut and gut-derived tissues

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GATA6: 
              Cell Lineage Identification in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Embryonic Stem Cells in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GATA6

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for GATA6 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gata61 , 5 GATA binding protein 61, 5 85(n)1
    88.12(a)1
      18 (5.63 cM)5
    144651  NM_010258.31  NP_034388.21 
     110525105 
    chicken
    (Gallus gallus)
    Aves GATA66
    Transcription factor GATA-6
    88(a)
    1 ↔ 1
    2(102302371-102315684)
    lizard
    (Anolis carolinensis)
    Reptilia GATA66
    GATA binding protein 6
    54(a)
    1 ↔ 1
    4(38666351-38710544)
    African clawed frog
    (Xenopus laevis)
    Amphibia gata-62 GATA-6 protein 76.4(n)    Y08865.2 
    zebrafish
    (Danio rerio)
    Actinopterygii gata62 GATA-binding protein 6 77.72(n)   58076  AY395731.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta pnr3 blastoderm segmentation transcription
    factor
    78(a)
    (best of 2)
        --


    ENSEMBL Gene Tree for GATA6 (if available)
    TreeFam Gene Tree for GATA6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GATA6 gene
    GATA42  GATA32  GATA22  GATA12  GATA52  TRPS12  
    4 SIMAP similar genes for GATA6 using alignment to 2 protein entries:     GATA6_HUMAN (see all proteins):
    GATA4    GATA5    GATA2    pp10443

    Find genes that share paralogs with GATA6           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 GATA6 (see all 671)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0673854
    Pancreatic agenesis and congenital heart defects (PACHD)4--see VAR_0673852 R C mis40--------
    VAR_0673884
    Conotruncal heart malformations (CTHM)4--see VAR_0673882 N H mis40--------
    VAR_0673824
    Tetralogy of Fallot (TOF)4--see VAR_0673822 S N mis40--------
    VAR_0673874
    Pancreatic agenesis and congenital heart defects (PACHD)4--see VAR_0673872 N D mis40--------
    VAR_0673904
    Pancreatic agenesis and congenital heart defects (PACHD)4--see VAR_0673902 K Q mis40--------
    VAR_0673894
    Pancreatic agenesis and congenital heart defects (PACHD)4--see VAR_0673892 A T mis40--------
    VAR_0673844
    Pancreatic agenesis and congenital heart defects (PACHD)4--see VAR_0673842 T A mis40--------
    VAR_0673864
    Pancreatic agenesis and congenital heart defects (PACHD)4--see VAR_0673862 R H mis40--------
    VAR_0673814
    Atrioventricular septal defect 5 (AVSD5)4--see VAR_0673812 A V mis40--------
    rs1821639031,2
    C--16597861(+) CCGTCC/GATCTC 1 -- int10--------

    HapMap Linkage Disequilibrium report for GATA6 (19749404 - 19782491 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GATA6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833596CNV Loss17160897

    Human Gene Mutation Database (HGMD): GATA6
    Site Specific Mutation Identification with PCR Assays
    2 Copy Number PCR Panels containing GATA6:
    Oncogenes & Tumor Suppressor Genes 384HC
    Pancreatic Cancer
    SeqTarget long-range PCR primers for resequencing GATA6
    DNA2.0 Custom Variant and Variant Library Synthesis for GATA6

    (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: 601656   
    OMIM disorders: 614474  614475  600001  217095  187500  
    UniProtKB/Swiss-Prot: GATA6_HUMAN, Q92908
  • Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the
    outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of
    great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate
    aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and
    the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery
    and aorta arise from the right ventricle. Note=The disease is caused by mutations affecting the gene represented
    in this entry. GATA6 mutations have been found in patients with non-syndromic persistent truncus arteriosus
    (PubMed:19666519)
  • Atrial septal defect 9 (ASD9) [MIM:614475]: 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. Some patients
    manifest tricuspid valve disease, pulmonary valve disease, and pulmonary artery hypertension. 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 5 (AVSD5) [MIM:614474]: 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
  • Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]: An autosomal dominant disease
    characterized by pancreatic severe hypoplasia or agenesis, diabetes mellitus, and congenital heart abnormalities
    including ventricular septal defect, patent ductus arteriosus, pulmonary artery stenosis, truncus arteriosus and
    tetralogy of Fallot. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 18 diseases for GATA6:    
    About MalaCards
    atrial septal defect 9    ovarian germ cell tumor    pancreatic agenesis and congenital heart defects    atrioventricular septal defect 5
    complete atrioventricular canal - ventricle hypoplasia    persistent truncus arteriosus    conotruncal heart malformations, variable    tetrology of fallot
    atrioventricular septal defect    pancreatic agenesis    diaphragmatic hernia 3    tetralogy of fallot
    double outlet right ventricle    velocardiofacial syndrome    conotruncal heart malformations    familial atrial fibrillation
    patent foramen ovale    atrial fibrillation, familial, 9

    1 disease from the University of Copenhagen DISEASES database for GATA6:
    Tetralogy of Fallot

    Find genes that share disorders with GATA6           About GenesLikeMe

    Selected Novoseek inferred disease relationships for GATA6 gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adrenal tumor 59.5 5 15767045 (2), 17207921 (1), 14666170 (1)
    carcinoma adrenocortical 56.4 6 15767045 (2), 15666845 (1), 14666170 (1)
    yolk sac tumor 49.6 2 16006960 (1), 19969558 (1)
    polycystic ovary syndrome 43.9 1 16159937 (1)
    carcinoma 25.3 10 18227727 (3), 15767045 (3), 15666845 (1), 18769116 (1)
    adenoma 19.6 5 15666845 (1), 15767045 (1)
    tumors 18 26 15666845 (3), 15767045 (3), 10449810 (2), 10999851 (2) (see all 15)
    teratoma 15 1 16006960 (1)
    colon cancer 12 4 17167069 (3)
    cancer 9.81 10 18769116 (3), 17167069 (3), 18535672 (2), 18405344 (1)

    Genetic Association Database (GAD): GATA6
    Human Genome Epidemiology (HuGE) Navigator: GATA6 (8 documents)

    Export disorders for GATA6 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)
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    PubMed articles for GATA6 gene, integrated from 10 sources (see all 184):
    (articles sorted by number of sources associating them with GATA6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human GATA-6 gene: structure, chromosomal location, and regulation of expression by tissue-specific and mitogen-responsive signals. (PubMed id 8975704)1, 2, 3, 9 Suzuki E....Walsh K. (Genomics 1996)
    2. A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. (PubMed id 20631719)1, 2, 4 Lin X.... Chen Y.H. (J. Hum. Genet. 2010)
    3. Identification of GATA6 sequence variants in patients with congenital heart defects. (PubMed id 20581743)1, 2, 4 Maitra M.... Garg V. (Pediatr. Res. 2010)
    4. GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. (PubMed id 19666519)1, 2, 9 Kodo K.... Yamagishi H. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    5. The human and mouse GATA-6 genes utilize two promoters and two initiation codons. (PubMed id 10608869)1, 2, 9 Brewer A.... Patient R. (J. Biol. Chem. 1999)
    6. Polymorphism in HSD17B6 is associated with key features of polycystic ovary syndrome. (PubMed id 17070195)1, 4, 9 Jones M.R....Stuckey B.G. (Fertil. Steril. 2006)
    7. GATA-6 DNA binding protein expressed in human gastric adenocarcinoma MKN45 cells. (PubMed id 9315713)1, 2, 9 Yoshida T.... Maeda M. (FEBS Lett. 1997)
    8. Molecular cloning of human GATA-6 DNA binding protein: high levels of expression in heart and gut. (PubMed id 9294001)1, 2, 9 Huggon I.C.... Towner P. (Biochim. Biophys. Acta 1997)
    9. GATA6 haploinsufficiency causes pancreatic agenesis in humans. (PubMed id 22158542)1, 2 Allen H.L.... Ellard S. (Nat. Genet. 2012)
    10. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility &quot;hot-spot&quot;. (PubMed id 20628624)1, 4 Johnatty S.E.... . (PLoS Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2627 HGNC: 4174 AceView: GATA6 Ensembl:ENSG00000141448 euGenes: HUgn2627
    ECgene: GATA6 H-InvDB: GATA6

    (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)
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    NameDescription
    PharmGKB entry for GATA6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GATA6 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GATA6 gene:
    Search GeneIP for patents involving GATA6

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



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