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

PKD2L1 Gene

protein-coding   GIFtS: 61
GCID: GC10M102037

Polycystic Kidney Disease 2-Like 1


(Previous symbols: PKD2L, PKDL)
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(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-Like 11 2     Polycystic Kidney Disease 2-Like 1 Protein2
PKD2L1 2 3 5     polycystin-2L12
PKDL1 2 3 5     polycystin-L2
Polycystin-2 Homolog2 3     polycystin-L12
Member 31     Transient Receptor Potential Cation Channel, Subfamily P, Member 32
Subfamily P1     Polycystin-2L13
Transient Receptor Potential Cation Channel1     Polycystin-L3
PCL2     Polycystin-L13
TRPP32     

External Ids:    HGNC: 90111   Entrez Gene: 90332   Ensembl: ENSG000001075937   OMIM: 6045325   UniProtKB: Q9P0L93   

Export aliases for PKD2L1 gene to outside databases

Previous GC identifers: GC10M100941 GC10M101281 GC10M102179 GC10M101712 GC10M095676


(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 PKD2L1 Gene:
This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane
domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in
cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Dec 2011)

GeneCards Summary for PKD2L1 Gene: 
PKD2L1 (polycystic kidney disease 2-like 1) is a protein-coding gene. Diseases associated with PKD2L1 include blastomycosis, and polycystic kidney disease, type 2. GO annotations related to this gene include cytoskeletal protein binding and calcium ion binding. An important paralog of this gene is PKD2.

UniProtKB/Swiss-Prot: PK2L1_HUMAN, Q9P0L9
Function: May function as a subunit of an ion channel and act as a transducer of calcium-mediated signaling

Gene Wiki entry for PKD2L1 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_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PKD2L1 gene promoter:
         GR   C/EBPbeta   Pbx1a   GR-beta   NRSF form 1   NRSF form 2   GATA-1   PPAR-gamma1   PPAR-gamma2   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPKD2L1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PKD2L1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PKD2L1


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

Entrez Gene cytogenetic band: 10q24   Ensembl cytogenetic band:  10q24.31   HGNC cytogenetic band: 10q24.31

PKD2L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PKD2L1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M102037:  view genomic region     (about GC identifiers)

Start:
102,047,903 bp from pter      End:
102,090,243 bp from pter
Size:
42,341 bases      Orientation:
minus 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: PK2L1_HUMAN, Q9P0L9 (See protein sequence)
Recommended Name: Polycystic kidney disease 2-like 1 protein  
Size: 805 amino acids; 91982 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
2 PDB 3D structures from and Proteopedia for PKD2L1:
3TE3 (3D)        4GIF (3D)    
Secondary accessions: O75972 Q5W039 Q9UP35 Q9UPA2
Alternative splicing: 4 isoforms:  Q9P0L9-1   Q9P0L9-2   Q9P0L9-3   Q9P0L9-4   (Unusual intron exon spliced junction)

Explore the universe of human proteins at neXtProt for PKD2L1: NX_Q9P0L9

Explore proteomics data for PKD2L1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9P0L9

  • PKD2L1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PKD2L1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001240766.1  NP_057196.2  

    ENSEMBL proteins: 
     ENSP00000325296   ENSP00000434019   ENSP00000436514   ENSP00000434224   ENSP00000345068  
     ENSP00000266049  

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    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ISS--
    GO:0005886plasma membrane IMP17944866
    GO:0009986colocalizes with cell surface ISS--
    GO:0016020membrane ----
    GO:0016021integral to membrane NAS9748274

    PKD2L1 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

    IUPHAR Guide to PHARMACOLOGY protein family classification: TRPP2 
    Transient Receptor Potential channels

    3 InterPro protein domains:
     IPR011992 EF-hand-like_dom
     IPR003915 PKD_2
     IPR013122 PKD1_2_channel

    Graphical View of Domain Structure for InterPro Entry Q9P0L9

    ProtoNet protein and cluster: Q9P0L9

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

    UniProtKB/Swiss-Prot: PK2L1_HUMAN, Q9P0L9
    Similarity: Belongs to the polycystin family


    PKD2L1 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: PK2L1_HUMAN, Q9P0L9
    Function: May function as a subunit of an ion channel and act as a transducer of calcium-mediated signaling

         Genatlas biochemistry entry for PKD2L1:
    polycystic kidney disease 2 (polycystin)-like 1,expressed at high level in fetal tissues,including kidney and
    liver,down-regulated in adult,deleted in mice with kidney and retinal defects,calcium modulated non selective
    cation channel permeable to Na+,K+,Ca++ ions,highly homolog to PKD2

         Gene Ontology (GO): 5/14 molecular function terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005227calcium activated cation channel activity IDA10517637
    GO:0005261cation channel activity IDA17944866
    GO:0005262calcium channel activity IBA--
    GO:0005272sodium channel activity IDA10517637
         
    PKD2L1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PKD2L1:
     Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pkd2l1):
     nervous system  taste/olfaction 

    PKD2L1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PKD2L1 
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    Inhib. RNA
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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 PKD2L1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Sodium channels and transporters: inward current
    Sodium channels and transporters: inward current

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for PKD2L1
        Sodium channels and transporters- inward current




    PKD2L1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PKD2L1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for PKD2L1 (Q9P0L92, 3 ENSP000003252964) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PKD1L3Q7Z4432, 3MINT-6743439 I2D: score=1 
    TNNI1P192373, ENSP000003370224I2D: score=1 STRING: ENSP00000337022
    TNNI2P487883, ENSP000002528984I2D: score=1 STRING: ENSP00000252898
    TNNI3P194293, ENSP000003418384I2D: score=2 STRING: ENSP00000341838
    --ENSP000003352724STRING: ENSP00000335272
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001581detection of chemical stimulus involved in sensory perception of sour taste ISS--
    GO:0006811ion transport ----
    GO:0006812cation transport ISS--
    GO:0035725sodium ion transmembrane transport IDA10517637
    GO:0050982detection of mechanical stimulus IBA--

    PKD2L1 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

    PKD2L1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PKD2L1 (PK2L1)

    1 HMDB Compound for PKD2L1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    10/13 IUPHAR Ligands for PKD2L1 (TRPP2) (see all 13)    About this table 
    LigandTypeActionAffinityPubmed IDs
    phenamil
    Channel blockerNone6.9--
    benzamil
    Channel blockerNone6--
    EIPA
    Channel blockerNone5--
    amiloride
    Channel blockerNone3.8--
    HCl
    ActivatorAgonist1.8916891422
    citric acid
    ActivatorAgonist1.716891422
    Gd3+
    Pore BlockerNone1.710517637
    flufenamate
    Channel blockerNone1.7--
    flufenamic acid
    Pore BlockerNone1.710517637
    Cai2+
    ActivatorAgonist1.710517637

    1 Novoseek inferred chemical compound relationship for PKD2L1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 26.8 9 11959145 (3), 9748274 (1), 10602992 (1), 17111037 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about PKD2L1 / PK2L1

    (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 PKD2L1 gene (2 alternative transcripts): 
    NM_001253837.1  NM_016112.2  

    Unigene Cluster for PKD2L1:

    Polycystic kidney disease 2-like 1
    Hs.159241  [show with all ESTs]
    Unigene Representative Sequence: NM_001253837
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000318222(uc009xwm.1 uc001kqx.1) ENST00000465680 ENST00000528248
    ENST00000532547 ENST00000338519 ENST00000353274

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    Additional mRNA sequence: 

    AF053316.1 AF073481.1 AF092170.1 AF094827.1 BC025665.1 DQ084244.1 

    5 DOTS entries:

    DT.92417930  DT.102820728  DT.97767910  DT.75125894  DT.92003376 

    12 AceView cDNA sequences:

    BC025665 AF094827 NM_016112 AF073481 BU728803 CB529429 AF053316 AF092170 
    AI217982 BI755892 AI953740 CD627520 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for PKD2L1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
    SP1:                                                                                                                  
    SP2:              -                                                                                                   


    ECgene alternative splicing isoforms for PKD2L1

    (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

    PKD2L1 expression in normal human tissues (normalized intensities)      PKD2L1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCACAAGGA
    PKD2L1 Expression
    About this image


    PKD2L1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Spinal Cord (Nervous System)
             spinal cord/lateral wall/mantle layer   
     
     Neural Tube (Nervous System)
             spinal cord/lateral wall/mantle layer   
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter

    See PKD2L1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PKD2L1

    SOURCE GeneReport for Unigene cluster: Hs.159241

    UniProtKB/Swiss-Prot: PK2L1_HUMAN, Q9P0L9
    Tissue specificity: Expressed in adult heart, skeletal muscle, brain, spleen, testis, retina and liver. According
    to PubMed:9748274, expressed at high levels in fetal tissues, including kidney and liver, and down-regulated in
    adult tissues. According to PubMed:10602361, expressed in fetal brain, but not expressed in fetal lung, liver or
    kidney. Isoform 4 appears to be expressed only in transformed lymphoblasts

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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 PKD2L1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pkd2l11 , 5 polycystic kidney disease 2-like 11, 5 86.53(n)1
    87.55(a)1
      19 (36.91 cM)5
    3290641  NM_181422.31  NP_852087.21 
     441476375 
    chicken
    (Gallus gallus)
    Aves PKD2L11 polycystic kidney disease 2-like 1 72.01(n)
    76.03(a)
      428954  XM_426509.3  XP_426509.3 
    lizard
    (Anolis carolinensis)
    Reptilia PKD2L16
    Uncharacterized protein
    70(a)
    1 ↔ 1
    GL343388.1(52514-80863)
    zebrafish
    (Danio rerio)
    Actinopterygii pkd2l11 polycystic kidney disease 2-like 1 63.49(n)
    62.13(a)
      567026  XM_690312.4  XP_695404.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pkd23   -- 39(a)   33E3   --
    worm
    (Caenorhabditis elegans)
    Secernentea pkd-23 Expression: CEM neurons, male sensory
    rays, nerve more
    37(a)   IV(15228104-15236176)   --


    ENSEMBL Gene Tree for PKD2L1 (if available)
    TreeFam Gene Tree for PKD2L1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PKD2L1 gene
    PKD22  PKDREJ2  PKD12  PKD2L22  PKD1L22  PKD1L12  
    2 SIMAP similar genes for PKD2L1 using alignment to 5 protein entries:     PK2L1_HUMAN (see all proteins):
    PKD2    PKD2L2

    PKD2L1 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

    10/1079 SNPs in PKD2L1 are shown (see all 1079)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2011233381,2
    Cuntested1102054754(+) GTAGCC/TGAGTT 4 S G mis11Minor allele frequency- T:0.00EU 1321
    VAR_0505574
    ----see VAR_0505572 A D mis40--------
    rs171128751,2
    C,F,H--102048515(+) AGCTAT/CGTGGC 2 -- int121Minor allele frequency- C:0.12NA NS EA CSA WA 2484
    rs1906089721,2
    --102048615(+) TCAGCA/GGCAGC 2 -- int10--------
    rs1172608201,2
    C,F--102048643(+) TCCTAG/TAAGTG 2 -- int11Minor allele frequency- T:0.03NA 120
    rs741546211,2
    C,F--102048700(+) CCTGCT/CGTCTG 2 -- int17Minor allele frequency- C:0.31WA CSA EA 246
    rs741546221,2
    C,F--102048722(+) CCCCTT/CCCTCA 2 -- int16Minor allele frequency- C:0.06WA CSA EA EU 1528
    rs3771448791,2
    C--102048829(+) AAGAAA/GGGGAC 2 -- int10--------
    rs8964141,2
    C,F,H--102048859(-) TGGTAC/TACAAA 2 -- int19Minor allele frequency- T:0.05NS EA CSA WA NA 769
    rs1142408531,2
    C,F--102048864(+) GTACCA/GCTTTT 2 -- int11Minor allele frequency- G:0.03WA 118

    HapMap Linkage Disequilibrium report for PKD2L1 (102047903 - 102090243 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PKD2L1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2740084CNV Deletion23290073
    esv2740073CNV Deletion23290073
    nsv895922CNV Loss21882294
    nsv831961CNV Loss17160897

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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: 604532    OMIM disorders: --

    15 diseases for PKD2L1:    About MalaCards
    blastomycosis    polycystic kidney disease, type 2    miliaria rubra    miliaria
    mucocutaneous leishmaniasis    kidney disease    polycystic kidney disease    pityriasis rosea
    leishmaniasis    cutaneous leishmaniasis    visceral leishmaniasis    leprosy
    retinitis    alzheimer's disease    neuronitis

    4 diseases from the University of Copenhagen DISEASES database for PKD2L1:
    Visceral leishmaniasis     Polycystic kidney disease     Mucocutaneous leishmaniasis     Cutaneous leishmaniasis

    PKD2L1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for PKD2L1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adpkd 88.8 10 11805156 (2), 9748274 (1), 16564495 (1), 12809519 (1) (see all 5)
    polycystic kidney diseases 80.7 5 11805156 (2), 9748274 (1), 11959145 (1)

    Genetic Association Database (GAD): PKD2L1
    Human Genome Epidemiology (HuGE) Navigator: PKD2L1 (1 document)

    Export disorders for PKD2L1 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 PKD2L1 gene, integrated from 9 sources (see all 34):
    (articles sorted by number of sources associating them with PKD2L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects. (PubMed id 9748274)1, 2, 3, 9 Nomura H.... Zhou J. (1998)
    2. Identification of PKD2L, a human PKD2-related gene: tissue-specific expression and mapping to chromosome 10q25. (PubMed id 9878261)1, 2, 3 Wu G.... Somlo S. (1998)
    3. Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2). (PubMed id 10602361)1, 2, 9 Veldhuisen B.... Peters D.J.M. (1999)
    4. The human polycystic kidney disease 2-like (PKDL) gene: exon/intron structure and evidence for a novel splicing mechanism. (PubMed id 10602992)1, 2, 9 Guo L.... Zhou J. (2000)
    5. Genome-wide association study identifies novel loci as sociated with circulating phospho- and sphingolipid concentrations. (PubMed id 22359512)1, 4 Demirkan A....Schmitz G. (2012)
    6. Human metabolic individuality in biomedical and pharma ceutical research. (PubMed id 21886157)1, 4 Suhre K....Gieger C. (2011)
    7. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (2006)
    8. 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. (2004)
    9. Polycystin channels and kidney disease. (PubMed id 11698076)1, 2 Stayner C. and Zhou J. (2001)
    10. Polycystin-L is a calcium-regulated cation channel permeable to calcium ions. (PubMed id 10517637)1, 2 Chen X.-Z.... Zhou J. (1999)

    (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: 9033 HGNC: 9011 AceView: PKD2L1 Ensembl:ENSG00000107593 euGenes: HUgn9033
    ECgene: PKD2L1 H-InvDB: PKD2L1

    (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 PKD2L1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PKD2L1 gene:
    Search GeneIP for patents involving PKD2L1

    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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