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

PKD2 Gene

protein-coding   GIFtS: 66
GCID: GC04P088929

polycystic kidney disease 2 (autosomal dominant)

 Explore 26 diseases affiliated with
PKD2 via our new
 Human Malady Compendium 
Biological research products
for PKD2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Polycystic Kidney Disease 2 (Autosomal Dominant)1 2     APKD22
PC21 2     Polycystin-21
PKD41 2     Polycystwin3
Pc-21 2     Transient Receptor Potential Cation Channel, Subfamily P, Member 22
TRPP21 2     Polycystwin3
Autosomal Dominant Polycystic Kidney Disease Type II Protein2 3     Polycystic Kidney Disease 2 Protein3
R483212 3     

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:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
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:
88,928,820 bp from pter      End:
88,998,929 bp from pter
Size:
70,110 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13563

  • PKD2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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    Gene Ontology (GO): 20 cellular component terms (GO ID links to tree view) (see first 5):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002133polycystin complex ISS--
    GO:0005624membrane fraction ----
    GO:0005737cytoplasm IMP16311606
    GO:0005783endoplasmic reticulum IMP16223735
    GO:0005789endoplasmic reticulum membrane IDA11854751
    GO:0005886plasma membrane IDA16025301
    GO:0005887integral to plasma membrane IDA--
    GO:0005911colocalizes with cell-cell junction ISS--
    GO:0005929cilium ISS--
    GO:0005932microtubule basal body IDA15337773
    GO:0009925basal plasma membrane IDA10770959
    GO:0030027lamellipodium IDA10760273
    GO:0031512motile primary cilium ISS--
    GO:0031513nonmotile primary cilium ISS--
    GO:0031941colocalizes with filamentous actin IDA16025301
    GO:0044441cilium part IEA--
    GO:0045180basal cortex IDA10770959
    GO:0071458integral to cytosolic side of endoplasmic reticulum membrane IDA--
    GO:0071556integral to lumenal side of endoplasmic reticulum membrane IDA--
    GO:0072686mitotic spindle IDA15123714


    PKD2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PKD2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_Ca-bd
     IPR003915 PKD_2
     IPR013122 PKD1_2_channel

    Graphical View of Domain Structure for InterPro Entry Q13563

    ProtoNet protein and cluster: Q13563

    1 Blocks protein family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

         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

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    Gene Ontology (GO): 5/18 molecular function terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IPI16223735
    GO:0005244voltage-gated ion channel activity IDA11854751
    GO:0005245voltage-gated calcium channel activity IDA15692563
    GO:0005248voltage-gated sodium channel activity IDA11252306
    GO:0005262calcium channel activity ----


    PKD2 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for PKD2: Pkd2tm1Som Pkd2tm1.2Tjwt Pkd2tm2Som
         14 MGI mutant phenotypes (inferred from 9 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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Calcium channels
    Calcium channels1.00
    2Selected targets of HNF1
    Selected targets of HNF11.00

    Pathway sources
    See GeneCards unified pathways
    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): 5/52 biological process terms (GO ID links to tree view) (see all 52):    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:0003127detection of nodal flow ISS--


    PKD2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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--
    6 Novoseek 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 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    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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    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 cDNA 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):

    BP372674 AI347615 BQ959129 NM_000297 AW027837 CA417804 BG897537 BM756445 
    AI307223 AI078766 CD679148 AA232889 AW069616 AA987851 BM760937 BE645879 
    BU683371 AW338910 AI090067 AA749414 CD251213 AI085614 CA446398 BQ574566 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGAACTCCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    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: 
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              T Helper Cell Differentiation in human mouse rat

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PKD2 gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    71(a)
    1 ↔ 1
    5(45597670-45614616)
    zebrafish
    (Danio rerio)
    Actinopterygii pkd21 polycystic kidney disease 2 66.22(n)
    68.16(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
    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 


    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
    NPIPP12  PKDREJ2  PKD12  PKD2L22  PKD2L12  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, UniProtKB, 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for PKD2
         2 CNVs: 2536 3501
         1 Indel: 68758
    Human Gene Mutation Database (HGMD): PKD2

    Locus Specific Mutation Databases (LSDB): PKD2
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    PKD2 for disorders           About GeneDecksing

    OMIM gene information: 173910   
    OMIM disorders: 613095  
    UniProtKB/Swiss-Prot: PKD2_HUMAN, Q13563
  • Defects in PKD2 are the cause of polycystic kidney disease 2 (PKD2) [MIM:613095]. PKD2 is 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

    20/26 diseases for PKD2 (see all 26):    About MalaCards
    polycystic kidney disease    kidney disease    polycystic kidney disease 2, autosomal dominant    polycystic kidney disease 2
    polycystic kidney disease, autosomal dominant    autosomal dominant disease    intracranial aneurysm    situs inversus
    polycystic liver disease    cystic kidney    liver disease    mucolipidosis
    retinal degeneration    cystic fibrosis    squamous cell carcinoma    gout
    fibrosis    retinitis    gastric cancer    nephropathy

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

    10/18 Novoseek 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
    Polycystic Kidney Disease, Autosomal Dominant

    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 270):
    (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. 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)
    4. Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2). (PubMed id 9286709)1, 2, 9 Hayashi T.... Somlo S. (1997)
    5. 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)
    6. 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)
    7. Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. (PubMed id 12707387)1, 2, 9 Magistroni R....Pei Y. (2003)
    8. 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)
    9. 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)
    10. 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. (1996)

    (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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