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

PKD2 Gene

protein-coding   GIFtS: 69
GCID: GC04P088929

Polycystic Kidney Disease 2 (Autosomal Dominant)

  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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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: Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). PKD1
and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis (By
similarity). Acts as a regulator of cilium length, together with PKD1 (By similarity). 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 (By similarity).
Functions as a calcium permeable cation channel

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PKD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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). 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)
Subcellular location: Membrane; Multi-pass membrane protein (Potential). Endoplasmic reticulum. Cell projection,
cilium (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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13563

  • PKD2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PKD2 Protein Expression
    REFSEQ proteins: NP_000288.1  
    ENSEMBL proteins: 
     ENSP00000237596   ENSP00000427131   ENSP00000425289  

    Human Recombinant Protein Products for PKD2: 
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    Gene Ontology (GO): 5/19 cellular component terms (GO ID links to tree view) (see all 19):    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

    PKD2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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-like_dom
     IPR002048 EF_hand_dom
     IPR003915 PKD_2
     IPR027359 K_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


    PKD2 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PKD2_HUMAN, Q13563
    Function: Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). PKD1
    and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis (By
    similarity). Acts as a regulator of cilium length, together with PKD1 (By similarity). 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 (By similarity).
    Functions as a calcium permeable cation channel

         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): 5/19 molecular function terms (GO ID links to tree view) (see all 19):    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
         
    PKD2 for ontologies           About GeneDecksing


    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  hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system 
     mortality/aging  normal  renal/urinary system  respiratory system 

    PKD2 for phenotypes           About GeneDecksing

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

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    (Pathways according to EMD Millipore, 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 SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PKD2 About                                                                                                See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for PKD2
        Selected targets of HNF1
    Calcium channels




    PKD2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PKD2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/21 Interacting proteins for PKD2 (Q135632, 3 ENSP000002375964) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PKD1P981612, 3, ENSP000002623044MINT-7895347 MINT-7895311 MINT-7895557 MINT-7895283 MINT-7895327 MINT-7895498 MINT-7895375 I2D: score=7 STRING: ENSP00000262304
    BCAP31P515722, 3, ENSP000003923304MINT-7014632 I2D: score=1 STRING: ENSP00000392330
    PKD2Q135632MINT-7894978 MINT-7895056 MINT-7895235 MINT-7895259
    DIAPH1O606102, 3, ENSP000003815654MINT-6618320 I2D: score=3 STRING: ENSP00000381565
    CD2APQ9Y5K63, ENSP000003522644I2D: score=3 STRING: ENSP00000352264
    About this table

    Gene Ontology (GO): 5/55 biological process terms (GO ID links to tree view) (see all 55):    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--

    PKD2 for ontologies           About GeneDecksing



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

    PKD2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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)

    Search CenterWatch for drugs/clinical trials and news about PKD2

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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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 

    24/141 AceView cDNA sequences (see all 141):

    NM_000297 AI090067 CA417804 AA749414 CA446398 BE645879 BU683371 BP372674 
    AA233186 AF054992 AI093570 BG897537 CA413959 BE645590 AW338910 BQ574566 
    AI349570 AW069616 BG402881 BQ959129 CD251213 BM760937 AI091028 AA232888 

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

    PKD2 expression in normal human tissues (normalized intensities)      PKD2 embryonic expression: see
    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 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
             Pons+Medulla   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion   
     
     Nose (Sensory Organs)
             sensory organ/nose   
     
     Endothelium (Cardiovascular System)
             pulmonary artery   
     
     Spinal Cord (Nervous System)
             spinal/ganglion   

    See PKD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PKD2

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including PKD2: 
              Primary Cilia in human mouse rat
              T Helper Cell Differentiation in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PKD2 gene from 13 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia PKD21 polycystic kidney disease 2 (autosomal dominant) 99.71(n)
    99.88(a)
      461367  XM_003310410.2  XP_003310458.1 
    mouse
    (Mus musculus)
    Mammalia Pkd21 , 5 polycystic kidney disease 21, 5 86.22(n)1
    90.65(a)1
      5 (50.68 cM)5
    187641  NM_008861.31  NP_032887.31 
     1044594505 
    rat
    (Rattus norvegicus)
    Mammalia Pkd21 polycystic kidney disease 2 homolog (human) 86.12(n)
    90.97(a)
      498328  XM_573552.3  XP_573552.3 
    cow
    (Bos taurus)
    Mammalia PKD21 polycystic kidney disease 2 (autosomal dominant) 91.77(n)
    94.83(a)
      530393  NM_001046312.1  NP_001039777.1 
    dog
    (Canis familiaris)
    Mammalia PKD21 polycystic kidney disease 2 (autosomal dominant) 92.09(n)
    95.64(a)
      487852  XM_544974.3  XP_544974.2 
    oppossum
    (Monodelphis domestica)
    Mammalia PKD26
    polycystic kidney disease 2 (autosomal dominant)
    82(a)
    1 ↔ 1
    5(53421431-53490136)
    platypus
    (Ornithorhynchus anatinus)
    Mammalia PKD26
    polycystic kidney disease 2 (autosomal dominant)
    78(a)
    1 ↔ 1
    Contig263(563132-587759)
    chicken
    (Gallus gallus)
    Aves PKD21 polycystic kidney disease 2 (autosomal dominant) 77.29(n)
    81.65(a)
      422585  NM_001031140.1  NP_001026311.1 
    lizard
    (Anolis carolinensis)
    Reptilia PKD26
    polycystic kidney disease 2 (autosomal dominant)
    77(a)
    1 ↔ 1
    5(45599248-45617326)
    zebrafish
    (Danio rerio)
    Actinopterygii pkd21 polycystic kidney disease 2 66.22(n)
    68.16(a)
      432387  NM_001002310.1  NP_001002310.1 
    sea squirt
    (Ciona savignyi)
    Ascidiacea --
    Uncharacterized protein
    58(a)
    1 → many
    reftig_55(871181-884422)
    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
    Protein PKD-21
    38(a)
    (best of 2)3
    50.16(n)1
    39.1(a)1
      I(13648484-13656446)3
    1784241  NM_070437.31  NP_502838.31 
            Species with no ortholog for PKD2

    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)
    About This Section
    Paralogs for PKD2 gene
    PKDREJ2  PKD12  PKD2L22  PKD2L12  PKD1L22  PKD1L12  
    2 SIMAP similar genes for PKD2 using alignment to 3 protein entries:     PKD2_HUMAN (see all proteins):
    PKD2L1    PKD2L2

    PKD2 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1653 SNPs in PKD2 are shown (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
    ----------
    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--------
    rs1476542631,2,4
    C,FPolycystic kidney disease 2 (PKD2)4 --88797695(+) CCCTCG/AAAGCC 2 /Q /R mis12Minor allele frequency- A:0.00NA EU 5875

    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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/23 diseases for PKD2 (see all 23):    About MalaCards
    kidney disease    polycystic kidney disease    polycystic kidney disease, type 2    polycystic kidney disease, autosomal dominant
    cystic kidney    polycystic kidney disease, type 1    polycystic liver disease    autosomal dominant disease
    intracranial aneurysm    mucolipidosis    situs inversus    liver disease
    gout    retinal degeneration    cystic fibrosis    retinitis
    ischemia    gastric cancer    squamous cell carcinoma    endotheliitis

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

    PKD2 for disorders           About GeneDecksing

    10/18 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)
    About This Section

    PubMed articles for PKD2 gene, integrated from 9 sources (see all 275):
    (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. (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. (2000)
    3. [Genetic analysis (PKD2) of autosomal dominant polycy stic kidney disease] (PubMed id 19936001)1, 4, 9 GA^mez P.F....Romo J.M. (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. (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. (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. (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. (1999)
    8. Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. (PubMed id 12707387)1, 2, 9 Magistroni R....Pei Y. (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. (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. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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
    Entrez Gene: 5311 HGNC: 9009 AceView: PKD2 Ensembl:ENSG00000118762 euGenes: HUgn5311
    ECgene: PKD2 H-InvDB: PKD2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PKD2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PKD2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PKD2
    Functional Glycomics Gateway - Glycan Bindinghttp://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_205

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PKD2 gene:
    Search GeneIP for patents involving PKD2

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



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    About This Section

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