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PLEKHH2 Gene

protein-coding   GIFtS: 50
GCID: GC02P043864

Pleckstrin Homology Domain Containing, Family H (With MyTH4...

  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 H (With MyTH4 Domain)
Member 21 2
PLEKHH1L2
Pleckstrin Homology Domain-Containing Family H Member 22
KIAA20283

External Ids:    HGNC: 305061   Entrez Gene: 1302712   Ensembl: ENSG000001525277   OMIM: 6127235   UniProtKB: Q8IVE33   

Export aliases for PLEKHH2 gene to outside databases

Previous GC identifers: GC02P043776 GC02P043600


(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 PLEKHH2 Gene:
PLEKHH2 (pleckstrin homology domain containing, family H (with MyTH4 domain) member 2) is a protein-coding gene. Diseases associated with PLEKHH2 include focal segmental glomerulosclerosis, and diabetic nephropathy. GO annotations related to this gene include actin binding and identical protein binding. An important paralog of this gene is PLEKHH1.

UniProtKB/Swiss-Prot: PKHH2_HUMAN, Q8IVE3
Function: In the kidney glomerulus may play a role in linking podocyte foot processes to the glomerular basement
membrane. May be involved in stabilization of F-actin by attenuating its depolymerization. Can recruit TGFB1I1
from focal adhesions to podocyte lamellipodia




(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_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PLEKHH2 gene promoter:
         RP58   FOXD1   HNF-1A   AREB6   GATA-6   HNF-1   FOXJ2 (long isoform)   ZIC2/Zic2   FOXJ2   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPLEKHH2 promoter sequence
   Search Chromatin IP Primers for PLEKHH2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PLEKHH2


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

Entrez Gene cytogenetic band: 2p21   Ensembl cytogenetic band:  2p21   HGNC cytogenetic band: 2p22

PLEKHH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLEKHH2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P043864:  view genomic region     (about GC identifiers)

Start:
43,864,412 bp from pter      End:
43,995,126 bp from pter
Size:
130,715 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, 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: PKHH2_HUMAN, Q8IVE3 (See protein sequence)
Recommended Name: Pleckstrin homology domain-containing family H member 2  
Size: 1493 amino acids; 168229 Da
Subunit: Self-associates. Interacts with TGFB1I1 (By similarity)
Secondary accessions: Q5JPJ6 Q6P4Q1 Q8N3Q3
Alternative splicing: 3 isoforms:  Q8IVE3-1   Q8IVE3-2   Q8IVE3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PLEKHH2: NX_Q8IVE3

Explore proteomics data for PLEKHH2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PLEKHH2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_742066.2  
    ENSEMBL proteins: 
     ENSP00000282406   ENSP00000427746   ENSP00000430377  

    PLEKHH2 Human Recombinant Protein Products:

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

    Selected InterPro protein domains (see all 7):
     IPR019748 FERM_central
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR014352 FERM/acyl-CoA-bd_prot_3-hlx
     IPR000857 MyTH4_dom

    Graphical View of Domain Structure for InterPro Entry Q8IVE3

    ProtoNet protein and cluster: Q8IVE3

    2 Blocks protein domains:
    IPB000857 Core domain in kinesin and myosin motor
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: PKHH2_HUMAN, Q8IVE3
    Similarity: Contains 1 FERM domain
    Similarity: Contains 1 MyTH4 domain
    Similarity: Contains 2 PH domains


    PLEKHH2 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: PKHH2_HUMAN, Q8IVE3
    Function: In the kidney glomerulus may play a role in linking podocyte foot processes to the glomerular basement
    membrane. May be involved in stabilization of F-actin by attenuating its depolymerization. Can recruit TGFB1I1
    from focal adhesions to podocyte lamellipodia

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding ISS--
    GO:0005515protein binding ----
    GO:0042802identical protein binding IEA--
         
    PLEKHH2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PLEKHH2
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    miRNA
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    miRTarBase miRNAs that target PLEKHH2:
    hsa-mir-1 (MIRT023913), hsa-mir-186-5p (MIRT045121), hsa-mir-335-5p (MIRT018517)

    Block miRNA regulation of human, mouse, rat PLEKHH2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PLEKHH2 (see all 49):
    hsa-miR-4317 hsa-miR-146a hsa-miR-128 hsa-miR-29a hsa-miR-488 hsa-miR-449a hsa-miR-149 hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmidPLEKHH2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PLEKHH2

    Gene Editing
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    OriGene ORF clones in mouse, rat for PLEKHH2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PLEKHH2 (NM_172069)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLEKHH2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLEKHH2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLEKHH2


    (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
    PKHH2_HUMAN, Q8IVE3: Cytoplasm. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic
    side. Cell projection, lamellipodium. Note=Localizes to foot process of podocytes. Localization to peripheral
    regions of lamellipodia seems to be dependent on PI3K
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    cytosol2
    nucleus2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005856cytoskeleton ----
    GO:0005886plasma membrane IDA--
    GO:0030027lamellipodium IDA--
    GO:0030864cortical actin cytoskeleton ISS--

    PLEKHH2 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PLEKHH2
    Interactions:

        Search GeneGlobe Interaction Network for PLEKHH2

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030835negative regulation of actin filament depolymerization ISS--

    PLEKHH2 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 PLEKHH2 (PKHH2)



    (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 PLEKHH2 gene: 
    NM_172069.3  

    Unigene Cluster for PLEKHH2:

    Pleckstrin homology domain containing, family H (with MyTH4 domain) member 2
    Hs.164162  [show with all ESTs]
    Unigene Representative Sequence: AL832207
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000282406(uc010yny.2) ENST00000405223(uc002rtf.3) ENST00000405000(uc002rte.3)
    ENST00000491692 ENST00000460356 ENST00000480103 ENST00000493408 ENST00000490038

    miRNA
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    Block miRNA regulation of human, mouse, rat PLEKHH2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PLEKHH2 (see all 49):
    hsa-miR-4317 hsa-miR-146a hsa-miR-128 hsa-miR-29a hsa-miR-488 hsa-miR-449a hsa-miR-149 hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmidPLEKHH2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PLEKHH2
    Predesigned siRNA for gene silencing in human, mouse, rat PLEKHH2
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PLEKHH2 (NM_172069)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLEKHH2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLEKHH2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PLEKHH2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PLEKHH2
      QuantiTect SYBR Green Assays in human, mouse, rat PLEKHH2
      QuantiFast Probe-based Assays in human, mouse, rat PLEKHH2

    Additional mRNA sequence: 

    AB095948.1 AK124381.1 AK126308.1 AL832207.1 AL833400.1 AL833473.1 AL833546.1 BC031914.1 
    BC063310.1 

    7 DOTS entries:

    DT.111837  DT.40230848  DT.40294362  DT.97785197  DT.40225072  DT.75176724  DT.95301107 

    Selected AceView cDNA sequences (see all 104):

    CA414103 AA393112 AL698858 AW964490 AI378885 AB095948 AI127711 AA448082 
    CA439436 BG740317 AA319404 AL833400 AA447583 BM725762 AL833473 AI581545 
    BQ014394 AW513203 BF060677 BC031914 CA412071 BU740615 AA410384 AI168317 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHH2 (see all 6)    About this scheme

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

    ExUns: 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31
    SP1:              -                                                         
    SP2:              -                                                         
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for PLEKHH2

    (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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    PLEKHH2 expression in normal human tissues (normalized intensities)      PLEKHH2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAAAACCCA
    PLEKHH2 Expression
    About this image


    PLEKHH2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Epithelial Cells
             Outer Root Sheath Cells Outer Root Sheath
     
     Hair (Integumentary System)
             Outer Root Sheath Cells Outer Root Sheath
     
     Brain (Nervous System)
             Oligodendrocyte Precursor Cells Forebrain White Matter
    PLEKHH2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PLEKHH2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.164162

    UniProtKB/Swiss-Prot: PKHH2_HUMAN, Q8IVE3
    Tissue specificity: Kidney. Reduced expression in patients with focal segmental glomerulosclerosis

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    QuantiFast Probe-based Assays in human, mouse, rat PLEKHH2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLEKHH2

    (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 PLEKHH2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plekhh21 , 5 pleckstrin homology domain containing, family H (with more1, 5 82.99(n)1
    86.1(a)1
      17 (55.02 cM)5
    2135561  NM_177606.41  NP_808274.21 
     845118955 
    chicken
    (Gallus gallus)
    Aves PLEKHH21 pleckstrin homology domain containing, family H (with more 77(n)
    80.42(a)
      421399  XM_004935358.1  XP_004935415.1 
    lizard
    (Anolis carolinensis)
    Reptilia PLEKHH26
    pleckstrin homology domain containing, family H (w...
    79(a)
    1 ↔ 1
    GL343231.1(1692721-1753660)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia plekhh21 pleckstrin homology domain containing, family H (with more 68.86(n)
    70.69(a)
      100485060  XM_002932393.2  XP_002932439.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.242622 Transcribed sequence with weak similarity to protein more 72.73(n)    57040650 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG438676
    --
    30(a)
    1 → many
    X(702250-822008)
    worm
    (Caenorhabditis elegans)
    Secernentea max-16
    Protein MAX-1, isoform b
    28(a)
    1 → many
    V(13098910-13110337) WBGene00003143


    ENSEMBL Gene Tree for PLEKHH2 (if available)
    TreeFam Gene Tree for PLEKHH2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PLEKHH2 gene
    PLEKHH12  
    Selected SIMAP similar genes for PLEKHH2 using alignment to 3 protein entries:     PKHH2_HUMAN (see all proteins) (see all similar genes):
    ZNF737    AURA2    BECN1    FKBP3    CATSPERG    ZNF10
    ZNF74    DCTN5    EML2    NPLOC4    NF2    RTBDN
    ZNF738    C4orf21    NSRP1    X-linked retinopathy protein    ZNF585B    ZNF283

    PLEKHH2 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 PLEKHH2 (see all 3290)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs121624101,2
    C--43862661(+) TGCCCA/GTCCTC 1 -- us2k10--------
    rs357961271,2
    C--43862667(+) GTGTGTGTG/-  
            
    TTTTA
    1 -- us2k11Minor allele frequency- -:0.50NA 2
    rs124687091,2
    H--43862686(+) tgtgtA/Gtgtgt 1 -- us2k10--------
    rs130196591,2
    C,F--43862690(+) TGTGTG/ATGTGT 1 -- us2k14Minor allele frequency- A:0.40NA CSA 10
    rs1872412801,2
    --43862694(+) TGTGTA/GTGTGT 1 -- us2k10--------
    rs1505781201,2
    C--43862738(+) AAAAA-/AGATTG 1 -- us2k10--------
    rs124686811,2
    C,H--43862780(+) ATACTC/TTCTAT 1 -- us2k10--------
    rs124730331,2
    C,F,A,H--43862888(+) TGAGAC/TTGACC 1 -- us2k1 tfbs324Minor allele frequency- T:0.42NS EA NA WA CSA 2354
    rs1163018491,2
    F--43862943(+) TTATCA/GCTAAT 1 -- us2k11Minor allele frequency- G:0.02NA 120
    rs1913233651,2
    --43862969(+) GCTCTG/TTGCTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PLEKHH2 (43864412 - 43995126 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PLEKHH2 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2656831CNV Deletion23128226
    esv2719994CNV Deletion23290073
    esv2525475CNV Deletion19546169
    nsv507008CNV Insertion20534489
    dgv148e55CNV Loss17911159
    nsv873979CNV Loss21882294
    nsv525332CNV Loss19592680
    nsv873974CNV Loss21882294
    nsv873978CNV Loss21882294
    nsv873977CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing PLEKHH2
    DNA2.0 Custom Variant and Variant Library Synthesis for PLEKHH2

    (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.)
    About This Section

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    OMIM gene information: 612723    OMIM disorders: --

    3 diseases for PLEKHH2:    About MalaCards
    focal segmental glomerulosclerosis    diabetic nephropathy    malaria


    PLEKHH2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PLEKHH2
    Human Genome Epidemiology (HuGE) Navigator: PLEKHH2 (1 document)

    Export disorders for PLEKHH2 gene to outside databases

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

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    PubMed articles for PLEKHH2 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with PLEKHH2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence variants in the PLEKHH2 region are associated with diabetic nephropathy in the GoKinD study population. (PubMed id 18752002)1, 4 Greene C.N....Mueller P.W. (Hum. Genet. 2008)
    2. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PubMed id 23503679)1 Zhu J....Elledge S.J. (Nat. Biotechnol. 2013)
    3. Plekhh2, a novel podocyte protein downregulated in human focal segmental glomerulosclerosis, is involved in matrix adhesion and actin dynamics. (PubMed id 22832517)2 Perisic L.... Pikkarainen T. (Kidney Int. 2012)
    4. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    5. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (Nucleic Acids Res. 2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (Genome Res. 2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1 Wiemann S.... Poustka A. (Genome Res. 2001)
    10. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. (PubMed id 11256614)1 Simpson J.C.... Wiemann S. (EMBO Rep. 2000)

    (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)
    About This Section

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    Entrez Gene: 130271 HGNC: 30506 AceView: PLEKHH2 Ensembl:ENSG00000152527 euGenes: HUgn130271
    ECgene: PLEKHH2 H-InvDB: PLEKHH2

    (According to HUGE)
    About This Section

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    HUGE: KIAA2028

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

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    NameDescription
    PharmGKB entry for PLEKHH2 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 PLEKHH2 gene:
    Search GeneIP for patents involving PLEKHH2

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



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