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PLEKHA7 Gene

protein-coding   GIFtS: 54
GCID: GC11M016803

Pleckstrin Homology Domain Containing, Family A Member 7

  See 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
Pleckstrin Homology Domain Containing, Family A Member 71 2
PH Domain-Containing Family A Member 72 3
Pleckstrin Homology Domain Containing, Family A Member 22
Pleckstrin Homology Domain-Containing Family A Member 72

External Ids:    HGNC: 270491   Entrez Gene: 1441002   Ensembl: ENSG000001666897   OMIM: 6126865   UniProtKB: Q6IQ233   

Export aliases for PLEKHA7 gene to outside databases

Previous GC identifers: GC11M016765 GC11M016809 GC11M016493


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PLEKHA7 Gene:
PLEKHA7 (pleckstrin homology domain containing, family A member 7) is a protein-coding gene. Diseases associated with PLEKHA7 include primary angle-closure glaucoma, and glaucoma. GO annotations related to this gene include phospholipid binding and delta-catenin binding. An important paralog of this gene is PLEKHA6.

UniProtKB/Swiss-Prot: PKHA7_HUMAN, Q6IQ23
Function: Required for zonula adherens biogenesis and maintenance. Acts via its interaction with KIAA1543/Nezha,
which anchors microtubules at their minus-ends to zonula adherens, leading to the recruitment of KIFC3 kinesin to
the junctional site




(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:
NC_000011.10  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PLEKHA7 gene promoter:
         p53   Pax-5   HNF-3beta   Max   JunD   FOXC1   FOXJ2 (long isoform)   FOXJ2   TGIF   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPLEKHA7 promoter sequence
   Search Chromatin IP Primers for PLEKHA7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PLEKHA7


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

Entrez Gene cytogenetic band: 11p15.1   Ensembl cytogenetic band:  11p15.1   HGNC cytogenetic band: 11p15

PLEKHA7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLEKHA7 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M016803:  view genomic region     (about GC identifiers)

Start:
16,799,842 bp from pter      End:
17,035,990 bp from pter
Size:
236,149 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PKHA7_HUMAN, Q6IQ23 (See protein sequence)
Recommended Name: Pleckstrin homology domain-containing family A member 7  
Size: 1121 amino acids; 127135 Da
Subunit: Interacts with KIAA1543/Nezha and CTNND1
Sequence caution: Sequence=AAH33239.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAG62985.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B4DK33 B4DWC3 Q86VZ7
Alternative splicing: 3 isoforms:  Q6IQ23-1   Q6IQ23-2   Q6IQ23-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PLEKHA7: NX_Q6IQ23

Explore proteomics data for PLEKHA7 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys669, Lys745, Lys751
  • Modification sites at PhosphoSitePlus

  • See PLEKHA7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_778228.3  
    ENSEMBL proteins: 
     ENSP00000435389   ENSP00000347883   ENSP00000433467   ENSP00000434812   ENSP00000431455  
     ENSP00000435806   ENSP00000416895  

    PLEKHA7 Human Recombinant Protein Products:

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    Novus Biologicals PLEKHA7 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PLEKHA7

    PLEKHA7 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Search for Antibodies for PLEKHA7 at Abcam
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    Search ThermoFisher Antibodies for PLEKHA7
    LSBio Antibodies in human, mouse, rat for PLEKHA7

    PLEKHA7 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for PLEKHA7
    Cloud-Clone Corp. CLIAs for PLEKHA7


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PLEKH: Pleckstrin homology (PH) domain containing

    3 InterPro protein domains:
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR001202 WW_dom

    Graphical View of Domain Structure for InterPro Entry Q6IQ23

    ProtoNet protein and cluster: Q6IQ23

    1 Blocks protein domain: IPB001849 Pleckstrin-like

    UniProtKB/Swiss-Prot: PKHA7_HUMAN, Q6IQ23
    Similarity: Contains 1 PH domain
    Similarity: Contains 2 WW domains


    PLEKHA7 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PKHA7_HUMAN, Q6IQ23
    Function: Required for zonula adherens biogenesis and maintenance. Acts via its interaction with KIAA1543/Nezha,
    which anchors microtubules at their minus-ends to zonula adherens, leading to the recruitment of KIFC3 kinesin to
    the junctional site

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0070097delta-catenin binding IDA19041755
         
    PLEKHA7 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for PLEKHA7:
     Decreased TP53 protein express  Decreased viability of wild-ty  Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PLEKHA7
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PLEKHA7
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PLEKHA7

    miRNA
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    miRTarBase miRNAs that target PLEKHA7:
    hsa-mir-335-5p (MIRT018803), hsa-mir-124-3p (MIRT023108)

    Block miRNA regulation of human, mouse, rat PLEKHA7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PLEKHA7 (see all 16):
    hsa-miR-30c hsa-miR-3607-3p hsa-miR-624 hsa-miR-30d hsa-miR-3159 hsa-miR-183* hsa-miR-30a hsa-miR-613
    SwitchGear 3'UTR luciferase reporter plasmidPLEKHA7 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PLEKHA7
    Predesigned siRNA for gene silencing in human, mouse, rat PLEKHA7

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for PLEKHA7

    Clone
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    OriGene ORF clones in mouse, rat for PLEKHA7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PLEKHA7 (NM_175058)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLEKHA7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLEKHA7

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    Browse ESI BIO Cell Lines and PureStem Progenitors for PLEKHA7 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLEKHA7


    (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
    PKHA7_HUMAN, Q6IQ23: Cell junction, adherens junction. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing
    center, centrosome. Note=Localizes to zonula adherens, recruited via its interaction with CTNND1
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus4
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm IEA--
    GO:0005813centrosome IDA19041755
    GO:0005915zonula adherens IDA19041755
    GO:0030054cell junction ----

    PLEKHA7 for ontologies           About GeneDecksing


    (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 PLEKHA7 About    
    See pathways by source

    SuperPathContained pathways About
    1Stabilization and expansion of the E-cadherin adherens junction
    Stabilization and expansion of the E-cadherin adherens junction


    1 BioSystems Pathway for PLEKHA7
        Stabilization and expansion of the E-cadherin adherens junction


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PLEKHA7
    Interactions:

        Search GeneGlobe Interaction Network for PLEKHA7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for PLEKHA7 (Q6IQ233 ENSP000003478834) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USP20Q9Y2K63, ENSP000003138114I2D: score=2 STRING: ENSP00000313811
    CTNND1O607163, ENSP000003820044I2D: score=1 STRING: ENSP00000382004
    CAMSAP3Q9P1Y53, ENSP000004167974I2D: score=1 STRING: ENSP00000416797
    CDH1P128303, ENSP000002617694I2D: score=1 STRING: ENSP00000261769
    KIFC3Q9BVG83, ENSP000003689764I2D: score=1 STRING: ENSP00000368976
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0045218zonula adherens maintenance IMP19041755
    GO:0090136epithelial cell-cell adhesion IMP19041755

    PLEKHA7 for ontologies           About GeneDecksing



    (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 PLEKHA7 (PKHA7)



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PLEKHA7 gene: 
    NM_175058.4  

    Unigene Cluster for PLEKHA7:

    Pleckstrin homology domain containing, family A member 7
    Hs.12332  [show with all ESTs]
    Unigene Representative Sequence: BC071599
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000531066(uc010rcu.1) ENST00000529049 ENST00000533901 ENST00000355661(uc001mmn.3 uc001mmo.3)
    ENST00000531776 ENST00000332954(uc001mmm.3) ENST00000530489(uc010rcv.2)
    ENST00000525781 ENST00000532079 ENST00000533251 ENST00000525177 ENST00000525581
    ENST00000525049 ENST00000531079 ENST00000528376 ENST00000528637 ENST00000529213
    ENST00000448080
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PLEKHA7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PLEKHA7 (see all 16):
    hsa-miR-30c hsa-miR-3607-3p hsa-miR-624 hsa-miR-30d hsa-miR-3159 hsa-miR-183* hsa-miR-30a hsa-miR-613
    SwitchGear 3'UTR luciferase reporter plasmidPLEKHA7 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PLEKHA7
    Predesigned siRNA for gene silencing in human, mouse, rat PLEKHA7
    Clone
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    OriGene clones in human, mouse for PLEKHA7 (see all 8)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PLEKHA7 (NM_175058)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLEKHA7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLEKHA7
    Primer
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    OriGene qPCR primer pairs and template standards for PLEKHA7
    OriGene qSTAR qPCR primer pairs in human, mouse for PLEKHA7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PLEKHA7
      QuantiTect SYBR Green Assays in human, mouse, rat PLEKHA7
      QuantiFast Probe-based Assays in human, mouse, rat PLEKHA7

    Additional mRNA sequence: 

    AK296371.1 AK301465.1 BC033239.1 BC041452.1 BC071599.1 BX648885.1 

    14 DOTS entries:

    DT.311630  DT.101980999  DT.100017453  DT.100740218  DT.120738397  DT.120738420  DT.311629  DT.91658869 
    DT.102836815  DT.120738382  DT.120738477  DT.91747444  DT.95151547  DT.120738418 

    Selected AceView cDNA sequences (see all 71):

    BC033239 AI262082 BC071599 AA613010 BX648885 BC041452 AW135567 AA384807 
    F13486 AI473098 AL044181 NM_175058 AI613497 CD723930 AW474245 AI261298 
    BG386570 BX400016 BF735061 CD644364 AI697364 CB851332 AW614571 BX283325 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHA7 (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b ^
    SP1:                          -     -     -                 -                                                                 -                                 
    SP2:                                                                                                                          -                                 
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28a · 28b
    SP1:              -     -                                 
    SP2:              -     -                                 
    SP3:                                                      
    SP4:                    -                                 
    SP5:                                                      


    ECgene alternative splicing isoforms for PLEKHA7

    (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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    PLEKHA7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGCTTAATA
    PLEKHA7 Expression
    About this image


    PLEKHA7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Placenta (Extraembryonic Tissues)
    PLEKHA7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PLEKHA7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.12332
        Custom PCR Arrays for PLEKHA7
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PLEKHA7
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PLEKHA7
    QuantiTect SYBR Green Assays in human, mouse, rat PLEKHA7
    QuantiFast Probe-based Assays in human, mouse, rat PLEKHA7
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLEKHA7

    (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 PLEKHA7 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plekha71 , 5 pleckstrin homology domain containing, family A member more1, 5 85.72(n)1
    89.2(a)1
      7 (61.42 cM)5
    2337651  NM_172743.21  NP_766331.11 
     1161234935 
    chicken
    (Gallus gallus)
    Aves PLEKHA71 pleckstrin homology domain containing, family A member more 69(n)
    72.72(a)
      423069  XM_004941401.1  XP_004941458.1 
    lizard
    (Anolis carolinensis)
    Reptilia PLEKHA76
    pleckstrin homology domain containing, family A me...
    63(a)
    1 ↔ 1
    1(66327388-66525731)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia plekha71 pleckstrin homology domain containing, family A member more 65.06(n)
    61.06(a)
      100485457  XM_002941069.2  XP_002941115.2 
    zebrafish
    (Danio rerio)
    Actinopterygii plekha7b1 pleckstrin homology domain containing, family A member more 64.99(n)
    63.77(a)
      100005106  XM_001344205.4  XP_001344241.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG343836
    --
    8(a)
    1 → many
    3R(9540931-9590389)


    ENSEMBL Gene Tree for PLEKHA7 (if available)
    TreeFam Gene Tree for PLEKHA7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PLEKHA7 gene
    PLEKHA62  PLEKHA42  PLEKHA52  
    3 SIMAP similar genes for PLEKHA7 using alignment to 7 protein entries:     PKHA7_HUMAN (see all proteins):
    PLEKHA4    PLEKHA5    WWC2

    PLEKHA7 for paralogs           About GeneDecksing



    (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 PLEKHA7 (see all 4851)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs79409711,2
    A,H--16808758(+) GAGAAC/TAGAGC 1 -- int14Minor allele frequency- T:0.00NS EA 418
    rs1453037501,2
    --16808895(+) TCCCTC/TCAGAA 1 -- int10--------
    rs1926282701,2
    C--16808898(+) CTCCAA/GAACCC 1 -- int10--------
    rs1144572161,2
    C,F--16808922(+) ATATTC/TGCACA 1 -- int11Minor allele frequency- T:0.03WA 118
    rs3734094571,2
    C--16808954(+) TCTCA-/AATATGAC 1 -- cds10--------
    rs2011394061,2
    C--16808957(+) TCAATA/GACTCC 1 -- int10--------
    rs1379488201,2
    --16809005(+) TATTGC/TTGGAA 1 -- int10--------
    rs815691,2
    C,F,O,A,H--16809023(-) CTTCAA/GTTGCC 1 -- int118Minor allele frequency- N:0.00EA NA WA CSA 773
    rs1416987161,2
    --16809065(+) CACAAA/GGAAAA 1 -- int10--------
    rs79512211,2
    A,H--16809073(+) AAACAC/TTCATT 1 -- int14Minor allele frequency- T:0.00NS EA 418

    HapMap Linkage Disequilibrium report for PLEKHA7 (16799842 - 17035990 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PLEKHA7 (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2744148CNV Deletion23290073
    esv2667499CNV Deletion23128226
    esv2744151CNV Deletion23290073
    esv2744152CNV Deletion23290073
    esv2653384CNV Deletion19546169
    esv2744149CNV Deletion23290073
    esv2744154CNV Deletion23290073
    esv2185277CNV Deletion18987734
    esv1010246CNV Deletion20482838
    esv2744147CNV Deletion23290073

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612686    OMIM disorders: --

    5 diseases for PLEKHA7:    
    About MalaCards
    primary angle-closure glaucoma    glaucoma    essential hypertension    hypertension
    pancreatitis

    1 disease from the University of Copenhagen DISEASES database for PLEKHA7:
    Primary angle-closure glaucoma

    PLEKHA7 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PLEKHA7
    Human Genome Epidemiology (HuGE) Navigator: PLEKHA7 (6 documents)

    Export disorders for PLEKHA7 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 PLEKHA7 gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with PLEKHA7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. (PubMed id 21909110)1, 4 Wain L.V....van Duijn C.M. (Nat. Genet. 2011)
    2. Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population. (PubMed id 20414254)1, 4 Hong K.W....Oh B. (J. Hum. Genet. 2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Blood pressure and hypertension are associated with 7 loci in the Japanese population. (PubMed id 20479155)1, 4 Takeuchi F....Kato N. (Circulation 2010)
    5. Genome-wide association study of blood pressure and hypertension. (PubMed id 19430479)1, 4 Levy D....van Duijn C.M. (Nat. Genet. 2009)
    6. Anchorage of microtubule minus ends to adherens junctions regulates epithelial cell-cell contacts. (PubMed id 19041755)1, 2 Meng W.... Takeichi M. (Cell 2008)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    8. Genotype-phenotype analysis of SNPs associated with primary angle closure glaucoma (rs1015213, rs3753841 and rs11024102) and ocular biometry in the EPIC-Norfolk Eye Study. (PubMed id 23505305)1 Day A.C....Foster P.J. (Br J Ophthalmol 2013)
    9. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    10. 14-3-3 proteins sequester a pool of soluble TRIM32 ubiquitin ligase to repress autoubiquitylation and cytoplasmic body formation. (PubMed id 23444366)1 Ichimura T....Hachiya N. (J. Cell. Sci. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 144100 HGNC: 27049 AceView: PLEKHA7 Ensembl:ENSG00000166689 euGenes: HUgn144100
    ECgene: PLEKHA7 H-InvDB: PLEKHA7

    (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 PLEKHA7 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for PLEKHA7 gene:
    Search GeneIP for patents involving PLEKHA7

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



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