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PKD2 Gene

protein-coding   GIFtS: 69
GCID: GC04P088929

Polycystic Kidney Disease 2 (Autosomal Dominant)

  See PKD2-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
Polycystic Kidney Disease 2 (Autosomal Dominant)1 2     PKD42
Autosomal Dominant Polycystic Kidney Disease Type II Protein2 3     Pc-22
R483212 3     TRPP22
Member 21     polycystin-22
Subfamily P1     polycystwin2
Transient Receptor Potential Cation Channel1     Transient Receptor Potential Cation Channel, Subfamily P, Member 22
APKD22     Polycystwin3
PC22     Polycystic Kidney Disease 2 Protein3

External Ids:    HGNC: 90091   Entrez Gene: 53112   Ensembl: ENSG000001187627   OMIM: 1739105   UniProtKB: Q135633   

Export aliases for PKD2 gene to outside databases

Previous GC identifers: GC04P089086 GC04P089230 GC04P089387 GC04P089285 GC04P089147 GC04P084675


(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 PKD2 Gene:
This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein
that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling
in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common
signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal
dominant polycystic kidney disease type 2. (provided by RefSeq, Mar 2011)

GeneCards Summary for PKD2 Gene:
PKD2 (polycystic kidney disease 2 (autosomal dominant)) is a protein-coding gene. Diseases associated with PKD2 include kidney disease, and polycystic kidney disease. GO annotations related to this gene include identical protein binding and calcium ion binding. An important paralog of this gene is PKDREJ.

UniProtKB/Swiss-Prot: PKD2_HUMAN, Q13563
Function: Functions as a calcium permeable cation channel involved in fluid-flow mechanosensation by the primary
cilium in renal epithelium. PKD1 and PKD2 may function through a common signaling pathway that is necessary for
normal tubulogenesis. Acts as a regulator of cilium length, together with PKD1. The dynamic control of cilium
length is essential in the regulation of mechanotransductive signaling. The cilium length response creates a
negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases
intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling. Also involved in
left/right axis specification downstream of nodal flow: forms a complex with PKD2 in cilia to facilitate flow
detection in left/right patterning (By similarity)

Gene Wiki entry for PKD2 (Polycystic kidney disease 2) 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_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PKD2 gene promoter:
         AML1a   AP-1   ATF-2   MyoD   NF-kappaB   HEN1   c-Jun   Pax-4a   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPKD2 promoter sequence
   Search Chromatin IP Primers for PKD2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PKD2


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

Entrez Gene cytogenetic band: 4q22.1   Ensembl cytogenetic band:  4q22.1   HGNC cytogenetic band: 4q22.1

PKD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PKD2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P088929:  view genomic region     (about GC identifiers)

Start:
88,928,799 bp from pter      End:
88,998,931 bp from pter
Size:
70,133 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PKD2_HUMAN, Q13563 (See protein sequence)
Recommended Name: Polycystin-2  
Size: 968 amino acids; 109691 Da
Subunit: Forms homooligomers. Isoform 1 interacts with PKD1 while isoform 3 does not (By similarity). Interacts
with PKD1L1. PKD1 requires the presence of PKD2 for stable expression. Interacts with CD2AP. Interacts with HAX1.
Interacts with NEK8 (By similarity). Part of a complex containing AKAP5, ADCY5, ADCY6 and PDE4C (By similarity)
6 PDB 3D structures from and Proteopedia for PKD2:
2KLD (3D)        2KLE (3D)        2KQ6 (3D)        2Y4Q (3D)        3HRN (3D)        3HRO (3D)    
Secondary accessions: O60441 Q15764 Q2M1Q3 Q2M1Q5
Alternative splicing: 5 isoforms:  Q13563-1   Q13563-2   Q13563-3   Q13563-4   Q13563-5   (Minor isoform)

Explore the universe of human proteins at neXtProt for PKD2: NX_Q13563

Explore proteomics data for PKD2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn299, Asn305, Asn328, Asn362, Asn375
  • Modification sites at PhosphoSitePlus

  • See PKD2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000288.1  
    ENSEMBL proteins: 
     ENSP00000237596   ENSP00000427131   ENSP00000425289  

    PKD2 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:
    TRP: Voltage-gated ion channels / Transient receptor potential cation channels
    EFHAND: EF-hand domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: TRPP1
    Transient Receptor Potential channels

    5 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR003915 PKD_2
     IPR027359 Channel_four-helix_dom
     IPR013122 PKD1_2_channel

    Graphical View of Domain Structure for InterPro Entry Q13563

    ProtoNet protein and cluster: Q13563

    1 Blocks protein domain: IPB003915 Polycystic kidney disease type 2 protein (PKD2) signature

    UniProtKB/Swiss-Prot: PKD2_HUMAN, Q13563
    Domain: The C-terminal coiled-coil domain binds calcium and undergoes a calcium-induced conformation change. It is
    implicated in oligomerization and the interaction with PKD1
    Similarity: Belongs to the polycystin family
    Similarity: Contains 1 EF-hand domain


    Find genes that share domains with PKD2           About GenesLikeMe


    (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, 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: PKD2_HUMAN, Q13563
    Function: Functions as a calcium permeable cation channel involved in fluid-flow mechanosensation by the primary
    cilium in renal epithelium. PKD1 and PKD2 may function through a common signaling pathway that is necessary for
    normal tubulogenesis. Acts as a regulator of cilium length, together with PKD1. The dynamic control of cilium
    length is essential in the regulation of mechanotransductive signaling. The cilium length response creates a
    negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases
    intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling. Also involved in
    left/right axis specification downstream of nodal flow: forms a complex with PKD2 in cilia to facilitate flow
    detection in left/right patterning (By similarity)

         Genatlas biochemistry entry for PKD2:
    polycystin 2,integral membrane protein,with some homology with PKD1 and TRPC1,C elegans ZK9459,and the family of
    voltage gated Ca+ channels,ubiquitously expressed,involved in regulating ion transport

         Gene Ontology (GO): Selected molecular function terms (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IPI16223735
    GO:0005216ion channel activity ----
    GO:0005244voltage-gated ion channel activity IDA11854751
    GO:0005245voltage-gated calcium channel activity IDA11252306
    GO:0005248voltage-gated sodium channel activity IDA11252306
         
    Find genes that share ontologies with PKD2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PKD2:
     Decreased focal adhesion (FA)  

         14 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Pkd2):
     cardiovascular system  cellular  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system 
     mortality/aging  normal  renal/urinary system  respiratory system 

    Find genes that share phenotypes with PKD2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for PKD2: Pkd2tm1Som Pkd2tm1.2Tjwt Pkd2tm2Som

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PKD2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PKD2

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    hsa-mir-21-5p (MIRT030759), hsa-mir-26b-5p (MIRT029117), hsa-mir-17-5p (MIRT001158), hsa-mir-93-5p (MIRT028086), hsa-mir-106b-5p (MIRT020485)

    Block miRNA regulation of human, mouse, rat PKD2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PKD2 (see all 69):
    hsa-miR-548j hsa-miR-520e hsa-miR-607 hsa-miR-188-5p hsa-miR-106a hsa-miR-3653 hsa-miR-519a hsa-miR-4325
    SwitchGear 3'UTR luciferase reporter plasmidPKD2 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
    PKD2_HUMAN, Q13563: Cell projection, cilium membrane; Multi-pass membrane protein (By similarity). Endoplasmic
    reticulum (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    endoplasmic reticulum5
    plasma membrane4
    cytosol2
    nucleus2
    extracellular1
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002133polycystin complex ISS--
    GO:0005737cytoplasm IMP16311606
    GO:0005783endoplasmic reticulum IMP16223735
    GO:0005789endoplasmic reticulum membrane IDA11854751
    GO:0005886plasma membrane IDA15692563

    Find genes that share ontologies with PKD2           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 PKD2 About    
    See pathways by source

    SuperPathContained pathways About
    1Selected targets of HNF1
    Selected targets of HNF1
    2Calcium channels
    Calcium channels



        Pathway & Disease-focused RT2 Profiler PCR Arrays including PKD2: 
              Primary Cilia in human mouse rat
              T Helper Cell Differentiation in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PKD2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for PKD2 (Q135631, 2, 3 ENSP000002375964) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PKD1P981611, 2, 3, ENSP000002623044EBI-7813714,EBI-1752013 MINT-7895347 MINT-7895311 MINT-7895557 MINT-7895283 MINT-7895327 MINT-7895498 MINT-7895375 I2D: score=7 STRING: ENSP00000262304
    PKD2Q135631, 2EBI-7813714,EBI-7813714 MINT-7894978 MINT-7895056 MINT-7895235 MINT-7895259
    BCAP31P515722, 3, ENSP000003923304MINT-7014632 I2D: score=1 STRING: ENSP00000392330
    DIAPH1O606102, 3, ENSP000003815654MINT-6618320 I2D: score=3 STRING: ENSP00000381565
    CD2APQ9Y5K63, ENSP000003522644I2D: score=3 STRING: ENSP00000352264
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 56):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001658branching involved in ureteric bud morphogenesis IEP11891195
    GO:0001822kidney development ----
    GO:0001889liver development IEP11891195
    GO:0001892embryonic placenta development ISS--
    GO:0001947heart looping IMP--

    Find genes that share ontologies with PKD2           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 PKD2

    1 HMDB Compound for PKD2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    7 IUPHAR Ligands for PKD2 (TRPP1)    About this table
    LigandTypeActionAffinityPubmed IDs
    Cai2+
    ActivatorNone611854751
    SKF96365
    Pore BlockerNone616396967
    amiloride
    Channel blockerNone6--
    La3+
    Pore BlockerNone616396967
    Gd3+
    Pore BlockerNone616396967
    Ni2+
    Pore BlockerNone616396967
    Cd2+
    Pore BlockerNone616396967

    6 Novoseek inferred chemical compound relationships for PKD2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    trp-p-2 81.5 9 18037411 (2), 19812035 (2), 17233617 (1), 17217069 (1) (see all 7)
    calcium 29.6 11 10097141 (3), 15001556 (2), 9192675 (1), 10435671 (1) (see all 7)
    ryanodine 2.73 3 14732716 (3)
    polyacrylamide 0 1 16215947 (1)
    sodium 0 1 17233617 (1)
    silver 0 1 11007674 (1)



    Find genes that share compounds with PKD2           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 PKD2 gene: 
    NM_000297.3  

    Unigene Cluster for PKD2:

    Polycystic kidney disease 2 (autosomal dominant)
    Hs.181272  [show with all ESTs]
    Unigene Representative Sequence: NM_000297
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000237596(uc003hre.3 uc011cdf.2 uc011cdg.2 uc011cdh.2)
    ENST00000506727 ENST00000506367 ENST00000508588 ENST00000511337 ENST00000512858
    ENST00000502363
    miRNA
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    hsa-miR-548j hsa-miR-520e hsa-miR-607 hsa-miR-188-5p hsa-miR-106a hsa-miR-3653 hsa-miR-519a hsa-miR-4325
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    Additional mRNA sequence: 

    AF054992.1 AF113693.1 AK293461.1 AK294173.1 BC112261.1 BC112263.1 U50928.1 U56813.1 

    4 DOTS entries:

    DT.216427  DT.100676422  DT.102828651  DT.91683947 

    Selected AceView cDNA sequences (see all 141):

    CA446398 AI307223 BQ632039 BE645590 CK000264 AI349570 AA487758 AI371127 
    CA413959 AI091028 BM760937 BQ959129 AW027837 AL695071 AW338910 CD518730 
    BP372674 BQ016215 AI093570 BE645879 BG402881 BM722780 AW069616 AA749414 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PKD2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15
    SP1:                    -     -                                                                             -                           
    SP2:                    -                                                                                                               
    SP3:                                                                                      -                                             
    SP4:                                                                                                                                    


    ECgene alternative splicing isoforms for PKD2

    (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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    PKD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGAACTCCC
    PKD2 Expression
    About this image


    PKD2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Kidney (Urinary System)
             Proximal tubule-like cells
     
     Brain (Nervous System)
             Cerebellum
     
     Uterus (Reproductive System)
    PKD2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PKD2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.181272

    UniProtKB/Swiss-Prot: PKD2_HUMAN, Q13563
    Tissue specificity: Strongly expressed in ovary, fetal and adult kidney, testis, and small intestine. Not detected
    in peripheral leukocytes

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PKD2: 
              Primary Cilia in human mouse rat
              T Helper Cell Differentiation in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for PKD2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PKD2
    QuantiTect SYBR Green Assays in human, mouse, rat PKD2
    QuantiFast Probe-based Assays in human, mouse, rat PKD2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKD2

    (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 PKD2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pkd21 , 5 polycystic kidney disease 21, 5 85.96(n)1
    89.94(a)1
      5 (50.68 cM)5
    187641  NM_008861.31  NP_032887.31 
     1044594505 
    chicken
    (Gallus gallus)
    Aves PKD21 polycystic kidney disease 2 (autosomal dominant) 76.98(n)
    81.11(a)
      422585  NM_001031140.1  NP_001026311.1 
    lizard
    (Anolis carolinensis)
    Reptilia PKD26
    polycystic kidney disease 2 (autosomal dominant)
    78(a)
    1 ↔ 1
    5(45599248-45617326)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pkd21 polycystic kidney disease 2 (autosomal dominant) 70.22(n)
    74.09(a)
      100038156  XM_002938627.2  XP_002938673.2 
    zebrafish
    (Danio rerio)
    Actinopterygii pkd21 polycystic kidney disease 2 65.93(n)
    67.9(a)
      432387  NM_001002310.1  NP_001002310.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG71253 protein amino acid phosphorylation
    protein serine/threonine more
    50(a)
    (best of 2)
      91A2   --
    worm
    (Caenorhabditis elegans)
    Secernentea W09C5.53
    pkd-21
    Phorbol esters/diacylglycerol binding
    domain (C1 more3
    pkd-21
    38(a)
    (best of 2)3
    50.46(n)1
    38.97(a)1
      I(13648484-13656446)3
    1784241  NM_070437.41  NP_502838.31 


    ENSEMBL Gene Tree for PKD2 (if available)
    TreeFam Gene Tree for PKD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PKD2 gene
    PKDREJ2  PKD12  PKD2L22  PKD1L22  PKD2L12  PKD1L12  
    2 SIMAP similar genes for PKD2 using alignment to 3 protein entries:     PKD2_HUMAN (see all proteins):
    PKD2L1    PKD2L2

    Find genes that share paralogs with PKD2           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 PKD2 (see all 1653)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1476542631,2,,4
    C,FPolycystic kidney disease 2 (PKD2)4 --88797695(+) CCCTCG/AAAGCC 2 /Q /R mis12Minor allele frequency- A:0.00NA EU 5875
    VAR_0588284
    Polycystic kidney disease 2 (PKD2)4--see VAR_0588282 C R mis40--------
    VAR_0588254
    Polycystic kidney disease 2 (PKD2)4--see VAR_0588252 R G mis40--------
    VAR_0588244
    Polycystic kidney disease 2 (PKD2)4--see VAR_0588242 R W mis40--------
    VAR_0588234
    Polycystic kidney disease 2 (PKD2)4--see VAR_0588232 R Q mis40--------
    VAR_0110734
    Polycystic kidney disease 2 (PKD2)4--see VAR_0110732 A P mis40--------
    VAR_0643944
    Polycystic kidney disease 2 (PKD2)4--see VAR_0643942 A P mis40--------
    VAR_0588274
    Polycystic kidney disease 2 (PKD2)4--see VAR_0588272 D V mis40--------
    VAR_0091954
    Polycystic kidney disease 2 (PKD2)4--see VAR_0091952 W G mis40--------
    VAR_0588224
    Polycystic kidney disease 2 (PKD2)4--see VAR_0588222 R Q mis40--------

    HapMap Linkage Disequilibrium report for PKD2 (88928799 - 88998931 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for PKD2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2668876CNV Deletion23128226
    esv2658797CNV Deletion23128226
    esv2665331CNV Deletion23128226
    esv25882CNV Loss19812545
    essv19863CNV CNV17122850
    dgv1651e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): PKD2
    Locus Specific Mutation Databases (LSDB): PKD2

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing PKD2
    DNA2.0 Custom Variant and Variant Library Synthesis for PKD2

    (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: 173910   
    OMIM disorders: 613095  
    UniProtKB/Swiss-Prot: PKD2_HUMAN, Q13563
  • Polycystic kidney disease 2 (PKD2) [MIM:613095]: A disorder characterized by progressive formation and
    enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also
    occurs in the liver and other organs. It represents approximately 15% of the cases of autosomal dominant
    polycystic kidney disease. PKD2 is clinically milder than PKD1 but it has a deleterious impact on overall life
    expectancy. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 11 diseases for PKD2:    
    About MalaCards
    kidney disease    polycystic kidney disease    polycystic kidney disease, type 2    polycystic kidney disease, autosomal dominant
    coenzyme q10 deficiency, primary, 3    polycystic kidney disease, type 1    polycystic liver disease    cystic kidney
    intracranial aneurysm    autosomal dominant disease    liver disease

    4 diseases from the University of Copenhagen DISEASES database for PKD2:
    Polycystic kidney disease     Cystic kidney     Polycystic liver disease     Situs inversus

    Find genes that share disorders with PKD2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PKD2 gene (see all 18)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adpkd 97.6 215 17100995 (5), 11007674 (5), 19098310 (3), 10411676 (3) (see all 99)
    polycystic kidney diseases 93.4 34 15300626 (2), 11195048 (2), 9175744 (2), 10541293 (1) (see all 27)
    polycystic kidney type 2 autosomal dominant disease 90.9 3 15300626 (2), 16135816 (1)
    renal cyst 88.4 20 9568711 (2), 12140187 (2), 10417277 (2), 10655555 (1) (see all 15)
    arpkd 88.2 13 15029248 (2), 10200981 (1), 11981261 (1), 18235088 (1) (see all 9)
    polycystic liver disease 82.5 2 16294159 (1), 19766642 (1)
    medullary cystic kidney 79.8 1 16207829 (1)
    cystic kidney disease 77.8 5 16207829 (2), 15029248 (1), 10362797 (1), 17217069 (1)
    cysts 76.9 40 12140187 (3), 19098310 (3), 10362797 (3), 16720597 (3) (see all 23)
    somatic mutations 62.7 13 10655555 (2), 10835625 (2), 9949210 (2), 12028433 (1) (see all 8)

    Genatlas disease: PKD2
    polycystic kidney disease 2,adult type,autosomal dominant,similar to PKD1 with cen average better
    prognosis,occuring by a cellular recessive mechanism supporting a two-hit model for cyst formation (somatic
    mutation in the cysts)

    GeneTests: PKD2
    GeneReviews: PKD2
    Genetic Association Database (GAD): PKD2
    Human Genome Epidemiology (HuGE) Navigator: PKD2 (17 documents)

    Export disorders for PKD2 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 PKD2 gene, integrated from 10 sources (see all 285) (see top 10):
    (articles sorted by number of sources associating them with PKD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease. (PubMed id 14993477)1, 2, 4, 9 Stekrova J.... Kohoutova M. (Nephrol. Dial. Transplant. 2004)
    2. The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton. (PubMed id 10760273)1, 2, 9 Gallagher A.R.... Witzgall R. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    3. [Genetic analysis (PKD2) of autosomal dominant polycystic kidney disease]. (PubMed id 19936001)1, 4, 9 GA^mez P.F....Romo J.M. (Nefrologia 2009)
    4. Mutations of the PKD2 gene in Taiwanese patients with autosomal dominant polycystic kidney disease. (PubMed id 15717641)1, 4, 9 Chang M.Y....Wu Chou Y.H. (Ren Fail 2005)
    5. Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). (PubMed id 9286709)1, 2, 9 Hayashi T.... Somlo S. (Genomics 1997)
    6. A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1. (PubMed id 16192288)1, 2, 9 Hackmann K.... Gerke V. (Hum. Mol. Genet. 2005)
    7. Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease. (PubMed id 10411676)1, 2, 9 Torra R.... San Millan J.L. (Kidney Int. 1999)
    8. Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. (PubMed id 12707387)1, 2, 9 Magistroni R.... Pei Y. (J. Am. Soc. Nephrol. 2003)
    9. Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. (PubMed id 10541293)1, 2, 9 Reynolds D.M.... Somlo S. (J. Am. Soc. Nephrol. 1999)
    10. Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations. (PubMed id 10835625)1, 2, 9 Watnick T.J.... Pei Y. (Nat. Genet. 2000)
    11. A gene similar to PKD1 maps to chromosome 4q22: a candidate gene for PKD2. (PubMed id 8954772)1, 2, 9 Schneider M.C.... Weremowicz S. (Genomics 1996)
    12. Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1. (PubMed id 17303584)1, 4, 9 TazA^n-Vega B....Torra R. (Nephrol. Dial. Transplant. 2007)
    13. 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)
    14. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    15. Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease. (PubMed id 19194729)1, 4 Fencl F....Seeman T. (Pediatr. Nephrol. 2009)
    16. Domain mapping of the polycystin-2 C-terminal tail using de novo molecular modeling and biophysical analysis. (PubMed id 18694932)1, 2 Celic A.... Boggon T.J. (J. Biol. Chem. 2008)
    17. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    18. Polycystin channels and kidney disease. (PubMed id 11698076)1, 2 Stayner C. and Zhou J. (Trends Pharmacol. Sci. 2001)
    19. In vivo interaction of the adapter protein CD2-associated protein with the type 2 polycystic kidney disease protein, polycystin-2. (PubMed id 10913159)1, 2 Lehtonen S....Lehtonen E. (J. Biol. Chem. 2000)
    20. A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). (PubMed id 9326320)1, 2 Veldhuisen B.... Peters D.J.M. (Am. J. Hum. Genet. 1997)
    21. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. (PubMed id 8650545)1, 2 Mochizuki T.... Somlo S. (Science 1996)
    22. Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. (PubMed id 8298643)1, 3 Peters D.J....Constantinou-Deltas C.D. (Nat. Genet. 1993)
    23. Specific association of the gene product of PKD2 with the TRPC1 channel. (PubMed id 10097141)1, 9 Tsiokas L.... Sukhatme V.P. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    24. Cyst formation in kidney via B-Raf signaling in the PKD2 transgenic mice. (PubMed id 19098310)1, 9 Park E.Y....Park J.H. (J. Biol. Chem. 2009)
    25. Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development. (PubMed id 11891195)1, 9 Chauvet V....Gubler M.C. (Am. J. Pathol. 2002)
    26. Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2. (PubMed id 9192675)1, 9 Tsiokas L....Walz G. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    27. NCAM as a cystogenesis marker gene of PKD2 overexpression. (PubMed id 18755075)1, 9 Yoo K.H....Park J.H. (BMB Rep 2008)
    28. [A Chinese autosomal dominant polycystic kidney disease family probably related to PKD2 gene]. (PubMed id 16215947)1, 9 Sun Y....Zhang S.Z. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005)
    29. Overexpression of PKD2 in the mouse is associated with renal tubulopathy. (PubMed id 18048422)1, 9 Burtey S....FontAcs M. (Nephrol. Dial. Transplant. 2008)
    30. Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. (PubMed id 11968093)2, 9 Reiterova J.... Zidovska J. (Hum. Mutat. 2002)
    31. Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease. (PubMed id 9949210)1, 9 Koptides M....Constantinou Deltas C. (Hum. Mol. Genet. 1999)
    32. PKD1 interacts with PKD2 through a probable coiled-coil domain. (PubMed id 9171830)1, 9 Qian F....Germino G.G. (Nat. Genet. 1997)
    33. A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2). (PubMed id 9175744)1, 9 Xenophontos S....Deltas C.C. (Hum. Mol. Genet. 1997)
    34. Molecular advances in autosomal dominant polycystic kidney disease. (PubMed id 20219615)1, 9 Gallagher A.R....Somlo S. (Adv Chronic Kidney Dis 2010)
    35. Deficiency of polycystin-2 reduces Ca2+ channel activity and cell proliferation in ADPKD lymphoblastoid cells. (PubMed id 15001556)1, 9 Aguiari G....Del Senno L. (FASEB J. 2004)
    36. Cellular and subcellular distribution of polycystin-2, the protein product of the PKD2 gene. (PubMed id 10770959)1, 9 Foggensteiner L....Sandford R. (J. Am. Soc. Nephrol. 2000)
    37. Family history of renal disease severity predicts the mutated gene in ADPKD. (PubMed id 19443633)1, 9 Barua M....Pei Y. (J. Am. Soc. Nephrol. 2009)
    38. A pathogenic C terminus-truncated polycystin-2 mutant enhances receptor-activated Ca2+ entry via association with TRPC3 and TRPC7. (PubMed id 19812035)1, 9 Miyagi K....Mori Y. (J. Biol. Chem. 2009)
    39. Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localization of polycystin-2 in vivo and in vitro. (PubMed id 16551655)1, 9 Streets A.J....Ong A.C. (Hum. Mol. Genet. 2006)
    40. [Gene diagnosis of autosomal dominant polycystic kidney disease type 2 using microsatellite DNA tightly linked to polycystic kidney disease gene 2]. (PubMed id 15300626)1, 9 Zhang W.L....Mei C.L. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2004)
    41. Polycystic disease of the liver. (PubMed id 15382167)1, 9 Everson G.T....Doctor R.B. (Hepatology 2004)
    42. New insights into polycystic kidney disease and its treatment. (PubMed id 9529618)1, 9 Torres V.E. (Curr. Opin. Nephrol. Hypertens. 1998)
    43. Ca2+-dependent conformational changes in a C-terminal cytosolic domain of polycystin-2. (PubMed id 19546223)1, 9 Schumann F....Kalbitzer H.R. (J. Biol. Chem. 2009)
    44. TRPP2 channel regulation. (PubMed id 17217069)1, 9 Witzgall R. (Handb Exp Pharmacol 2007)
    45. Kidney injury molecule 1 (Kim1) is a novel ciliary molecule and interactor of polycystin 2. (PubMed id 18273441)1, 9 Kuehn E.W....Walz G. (Biochem. Biophys. Res. Commun. 2007)
    46. Polycystin-2 regulates proliferation and branching morphogenesis in kidney epithelial cells. (PubMed id 16278216)1, 9 Grimm D.H....Caplan M.J. (J. Biol. Chem. 2006)
    47. Kinesin-2 mediates physical and functional interactions between polycystin-2 and fibrocystin. (PubMed id 17008358)1, 9 Wu Y....Chen X.Z. (Hum. Mol. Genet. 2006)
    48. Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. (PubMed id 15772804)2, 9 Peltola P....Laakso M. (J. Mol. Med. 2005)
    49. Molecular pathogenesis of ADPKD: the polycystin complex gets complex. (PubMed id 15780076)1, 9 Ong A.C. and Harris P.C. (Kidney Int. 2005)
    50. Polycystin 2 interacts with type I inositol 1,4,5-trisphosphate receptor to modulate intracellular Ca2+ signaling. (PubMed id 16223735)1, 9 Li Y....Guggino W.B. (J. Biol. Chem. 2005)
    51. Alpha-actinin associates with polycystin-2 and regulates its channel activity. (PubMed id 15843396)1, 9 Li Q....Chen X.Z. (Hum. Mol. Genet. 2005)
    52. Regulation of calcium signaling by polycystin-2. (PubMed id 15130895)1, 9 Cantiello H.F. (Am. J. Physiol. Renal Physiol. 2004)
    53. Polycystin-2 associates with tropomyosin-1, an actin microfilament component. (PubMed id 12527301)1, 9 Li Q....Chen X.Z. (J. Mol. Biol. 2003)
    54. Polycystin-2 interacts with troponin I, an angiogenesis inhibitor. (PubMed id 12525172)1, 9 Li Q....Chen X.Z. (Biochemistry 2003)
    55. Phosphorylation of C-terminal polycystin-2 influences the interaction with PIGEA14: a QCM study based on solid supported membranes. (PubMed id 23838289)1 Morick D....Steinem C. (Biochem. Biophys. Res. Commun. 2013)
    56. Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease. (PubMed id 23985799)1 Chang M.Y....Wu-Chou Y.H. (J. Hum. Genet. 2013)
    57. Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy. (PubMed id 23376035)1 Paavola J....Ehrlich B.E. (J. Mol. Cell. Cardiol. 2013)
    58. GWAS of dental caries patterns in the permanent dentition. (PubMed id 23064961)1 Shaffer J.R....Marazita M.L. (J. Dent. Res. 2013)
    59. Polycystin-2 induces a conformational change in polycystin-1. (PubMed id 23848298)1 Oatley P....Edwardson J.M. (Biochemistry 2013)
    60. Reduced ciliary polycystin-2 in induced pluripotent stem cells from polycystic kidney disease patients with PKD1 mutations. (PubMed id 24009235)1 Freedman B.S....Bonventre J.V. (J. Am. Soc. Nephrol. 2013)
    61. Hyperphosphorylation of polycystin-2 at a critical residue in disease reveals an essential role for polycystin-1-regulated dephosphorylation. (PubMed id 23390129)1 Streets A.J....Ong A.C. (Hum. Mol. Genet. 2013)
    62. N-myc downstream-regulated gene 1 is involved in the regulation of cystogenesis in transgenic mice overexpressing human PKD2 gene. (PubMed id 23212942)1 Kim B.H....Park J.H. (Proteomics 2013)
    63. Polycystic kidney disease: Polycystin-1 and polycystin-2--it's complicated. (PubMed id 23567275)1 Watnick T.J. and Germino G.G. (Nat Rev Nephrol 2013)
    64. Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes. (PubMed id 22367170)1 Neumann H.P....Jilg C. (Int Urol Nephrol 2012)
    65. Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic. (PubMed id 22863349)1 Robinson C....Sandford R.N. (BMC Nephrol 2012)
    66. PKD2 and PKD3 promote prostate cancer cell invasion by modulating NF-I_B- and HDAC1-mediated expression and activation of uPA. (PubMed id 22797919)1 Zou Z....Deng F. (J. Cell. Sci. 2012)
    67. Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. (PubMed id 22508176)1 Audrezet M.P.... Ferec C. (Hum. Mutat. 2012)
    68. Structural interaction and functional regulation of polycystin-2 by filamin. (PubMed id 22802962)1 Wang Q....Chen X.Z. (PLoS ONE 2012)
    69. Polycystin-1 and polycystin-2 are both required to amplify inositol-trisphosphate-induced Ca2+ release. (PubMed id 22456092)1 Mekahli D....Missiaen L. (Cell Calcium 2012)
    70. Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy. (PubMed id 22114106)1 Losekoot M....Peters D.J. (J. Med. Genet. 2012)
    71. Interferon-I^-induced PD-L1 surface expression on human oral squamous carcinoma via PKD2 signal pathway. (PubMed id 22204817)1 Chen J....Zhang P. (Immunobiology 2012)
    72. Calcium-induced conformational changes in C-terminal tail of polycystin-2 are necessary for channel gating. (PubMed id 22474326)1 A8eliA8 A.S....Boggon T.J. (J. Biol. Chem. 2012)
    73. Pathway analysis of genome-wide association studies on uric acid concentrations. (PubMed id 22609445)1 Lee Y.H. and Song G.G. (Hum. Immunol. 2012)
    74. Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. (PubMed id 22797727)1 Okada Y....Tanaka T. (Nat. Genet. 2012)
    75. Protein kinase D2 is a novel regulator of glioblastoma growth and tumor formation. (PubMed id 21727210)1 Azoitei N....Seufferlein T. (Neuro-oncology 2011)
    76. Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). (PubMed id 21115670)2 Hoefele J.... Klein H.G. (Nephrol. Dial. Transplant. 2011)
    77. PKD2 mediates multi-drug resistance in breast cancer cells through modulation of P-glycoprotein expression. (PubMed id 20934246)1 Chen J....Zhang P. (Cancer Lett. 2011)
    78. A single amino acid residue constitutes the third dimerization domain essential for the assembly and function of the tetrameric polycystin-2 (TRPP2) channel. (PubMed id 21474446)1 Feng S....Ong A.C. (J. Biol. Chem. 2011)
    79. [Identification of mutations in PKD1 and PKD2 genes in two Chinese families with autosomal dominant polycystic kidney disease]. (PubMed id 21983717)1 Yu C.W....Zhang S.Z. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2011)
    80. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    81. Association of PKD2 (polycystin 2) mutations with left-right laterality defects. (PubMed id 21719175)1 Bataille S....Burtey S. (Am. J. Kidney Dis. 2011)
    82. Macromolecular assembly of polycystin-2 intracytosolic C-terminal domain. (PubMed id 21622852)1 Ferreira F.M....Onuchic L.F. (Proc. Natl. Acad. Sci. U.S.A. 2011)
    83. The exocyst protein Sec10 interacts with Polycystin-2 and knockdown causes PKD-phenotypes. (PubMed id 21490950)1 Fogelgren B....Lipschutz J.H. (PLoS Genet. 2011)
    84. Protein kinase C mediates platelet secretion and thrombus formation through protein kinase D2. (PubMed id 21527521)1 Konopatskaya O....Poole A.W. (Blood 2011)
    85. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
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    228. Serial analysis of the vascular endothelial transcriptome under static and shear stress conditions. (PubMed id 18505769)9 Chu T.J. and Peters D.G. (Physiol. Genomics 2008)
    229. Kidney cysts, pancreatic cysts, and biliary disease in a mouse model of autosomal recessive polycystic kidney disease. (PubMed id 18286309)9 Williams S.S....Igarashi P. (Pediatr. Nephrol. 2008)
    230. Mouse models of polycystic kidney disease. (PubMed id 19186247)9 Wilson P.D. (Curr. Top. Dev. Biol. 2008)
    231. [Autosomal dominant polycystic kidney disease: from genes to cilium]. (PubMed id 18350498)9 Magistroni R....Albertazzi A. (G Ital Nefrol 2008)
    232. Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease. (PubMed id 17429049)9 Rossetti S. and Harris P.C. (J. Am. Soc. Nephrol. 2007)
    233. TRP channels and kidney disease: lessons from polycystic kidney disease. (PubMed id 17233617)9 Qamar S....Sandford R. (Biochem. Soc. Trans. 2007)
    234. Cardiovascular characterization of Pkd2(+/LacZ) mice, an animal model for the autosomal dominant polycystic kidney disease type 2 (ADPKD2). (PubMed id 17182135)9 Stypmann J....Pennekamp P. (Int. J. Cardiol. 2007)
    235. Molecular pathogenesis of autosomal dominant polycystic kidney disease. (PubMed id 16515728)9 Yoder B.K....Sandford R. (Expert Rev Mol Med 2006)
    236. Nonspecific cation current associated with native polycystin-2 in HEK-293 cells. (PubMed id 16396967)9 Pelucchi B....Belluzzi O. (J. Am. Soc. Nephrol. 2006)
    237. [Molecular diagnosis of adult dominant polycystic kidney disease in the Canary Islands]. (PubMed id 17227243)9 Torres M.J....Palop L. (Nefrologia 2006)
    238. Research on autosomal dominant polycystic kidney disease in China. (PubMed id 17134592)9 Dai B. and Mei C.L. (Chin. Med. J. 2006)
    239. A truncated polycystin-2 protein causes polycystic kidney disease and retinal degeneration in transgenic rats. (PubMed id 16943309)9 Gallagher A.R....Witzgall R. (J. Am. Soc. Nephrol. 2006)
    240. A regulatory role of polycystin-1 on cystic fibrosis transmembrane conductance regulator plasma membrane expression. (PubMed id 16914886)9 Ikeda M....Guggino W.B. (Cell. Physiol. Biochem. 2006)
    241. Polycystins: polymodal receptor/ion-channel cellular sensors. (PubMed id 15889307)9 Delmas P. (Pflugers Arch. 2005)
    242. Polycystic liver and kidney diseases. (PubMed id 16338757)9 Tahvanainen E....HAPckerstedt K. (Ann. Med. 2005)
    243. Polycystic kidney disease. (PubMed id 16227765)9 Fall P.J. and Prisant L.M. (J Clin Hypertens (Greenwich) 2005)
    244. Feline polycystic kidney disease is linked to the PKD1 region. (PubMed id 15674734)9 Young A.E....Lyons L.A. (Mamm. Genome 2005)
    245. [Cystic liver diseases. Genetics and cell biology]. (PubMed id 16294159)9 Housset C. (Gastroenterol. Clin. Biol. 2005)
    246. The KLP-6 kinesin is required for male mating behaviors and polycystin localization in Caenorhabditis elegans. (PubMed id 15753033)9 Peden E.M. and Barr M.M. (Curr. Biol. 2005)
    247. Management of polycystic liver disease. (PubMed id 15701294)9 Everson G.T. and Taylor M.R. (Curr Gastroenterol Rep 2005)
    248. Increased activity of activator protein-1 transcription factor components ATF2, c-Jun, and c-Fos in human and mouse autosomal dominant polycystic kidney disease. (PubMed id 16049073)9 Le N.H....Peters D.J. (J. Am. Soc. Nephrol. 2005)
    249. Polycystins: what polycystic kidney disease tells us about sperm. (PubMed id 14991728)9 Kierszenbaum A.L. (Mol. Reprod. Dev. 2004)
    250. New insights into ADPKD molecular pathways using combination of SAGE and microarray technologies. (PubMed id 15498457)9 Husson H....Ibraghimov-Beskrovnaya O. (Genomics 2004)
    251. The genetic role in autosomal dominant polycystic kidney disease and nephrology clinical practice. (PubMed id 15673153)9 Avery-Lynch M. (CANNT J 2004)
    252. Calcium signaling and polycystin-2. (PubMed id 15336985)9 Anyatonwu G.I. and Ehrlich B.E. (Biochem. Biophys. Res. Commun. 2004)
    253. A transcriptional network in polycystic kidney disease. (PubMed id 15029248)9 Gresh L....Pontoglio M. (EMBO J. 2004)
    254. Evolutionary conservation of Drosophila polycystin-2 as a calcium-activated cation channel. (PubMed id 15100357)9 Venglarik C.J....Lu X. (J. Am. Soc. Nephrol. 2004)
    255. Siah-1 interacts with the intracellular region of polycystin-1 and affects its stability via the ubiquitin-proteasome pathway. (PubMed id 15284290)9 Kim H....Kang S. (J. Am. Soc. Nephrol. 2004)
    256. Molecular cytogenetic aberrations in autosomal dominant polycystic kidney disease tissue. (PubMed id 12538736)9 Gogusev J....Droz D. (J. Am. Soc. Nephrol. 2003)
    257. Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. (PubMed id 12529853)9 Li A.... Somlo S. (Am. J. Hum. Genet. 2003)
    258. Polycystin-1 activates and stabilizes the polycystin-2 channel. (PubMed id 12407099)9 Xu G.M....Cantiello H.F. (J. Biol. Chem. 2003)
    259. Molecular basis of autosomal-dominant polycystic kidney disease. (PubMed id 12022474)9 Gallagher A.R....Witzgall R. (Cell. Mol. Life Sci. 2002)
    260. Molecular basis of polycystic kidney disease: PKD1, PKD2 and PKHD1. (PubMed id 11981261)9 Harris P.C. (Curr. Opin. Nephrol. Hypertens. 2002)
    261. The calcium-binding EF-hand in polycystin-L is not a domain for channel activation and ensuing inactivation. (PubMed id 11959145)9 Li Q....Chen X.Z. (FEBS Lett. 2002)
    262. A complete mutation screen of the ADPKD genes by DHPLC. (PubMed id 11967008)9 Rossetti S.... Harris P.C. (Kidney Int. 2002)
    263. [Polymorphisms of four microsatellite markers tightly linked with polycystic kidney disease 2 gene in Chinese]. (PubMed id 11836683)9 Ding L....Peng Y. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2002)
    264. Polycystin-2 expression is increased following experimental ischaemic renal injury. (PubMed id 12454224)9 Zhao Y....Ong A.C. (Nephrol. Dial. Transplant. 2002)
    265. The genes and proteins associated with poly-cystic kidney diseases. (PubMed id 12536190)9 Wilson P.D. (Minerva Urol Nefrol 2002)
    266. Clinical and genetic epidemiology of inherited renal disease in Newfoundland. (PubMed id 12028433)9 Parfrey P.S....Green J.S. (Kidney Int. 2002)
    267. Polycystin: new aspects of structure, function, and regulation. (PubMed id 11274246)9 Wilson P.D. (J. Am. Soc. Nephrol. 2001)

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    Entrez Gene: 5311 HGNC: 9009 AceView: PKD2 Ensembl:ENSG00000118762 euGenes: HUgn5311
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    PharmGKB entry for PKD2 Pharmacogenomics, SNPs, Pathways
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