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PKD2L1 Gene

protein-coding   GIFtS: 62
GCID: GC10M102047

Polycystic Kidney Disease 2-Like 1


(Previous symbols: PKD2L, PKDL)
  See PKD2L1-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-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
TRPP32 3     Transient Receptor Potential Cation Channel, Subfamily P, Member 32
Member 31     Polycystin-2L13
Subfamily P1     Polycystin-L3
Transient Receptor Potential Cation Channel1     Polycystin-L13
PCL2     

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 GC10M102037 GC10M095676


(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 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 mucocutaneous leishmaniasis, and kidney disease. GO annotations related to this gene include calcium channel activity and calcium ion binding. An important paralog of this gene is PKD2.

UniProtKB/Swiss-Prot: PK2L1_HUMAN, Q9P0L9
Function: Pore-forming subunit of a ciliary calcium channel that controls calcium concentration within primary
cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD1L1 in primary cilia and
forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. May
act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its
contribution to sour taste perception is unclear in vivo and may be indirect

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   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 Chromatin IP Primers for PKD2L1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC10M102047:  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 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: PK2L1_HUMAN, Q9P0L9 (See protein sequence)
Recommended Name: Polycystic kidney disease 2-like 1 protein  
Size: 805 amino acids; 91982 Da
Subunit: Homotrimer; trimerization is independent of calcium-binding. Calcium channels are probably composed of 3
subunit of PKD2L1 and 1 subunit of some PKD1 protein (PKD1, PKD1L1, PKD1L2 or PKDL3). Interacts with PKD1.
Interacts with PKD1L1; to form ciliary calcium channel. Interacts with PKD1L3, to form putative sour taste
receptor. Interacts with GNB2L1; inhibits the channel activity possibly by impairing localization to the cell
membrane
Caution: PKD1L3 and PKD2L1 have been defined as sour taste receptor in gustatory cells based on a number of
indirect evidences in mouse. Some data confirm this hypothesis in human: in 2 patients with sour ageusia that are
unresponsive to sour stimuli, but show normal responses to bitter, sweet, and salty stimuli, expression of PKD1L3
and PKD2L1 is absent in the anterior part of the tongue (PubMed:19812697). However, a number of experiments have
recently shown that the sour taste receptor activity is probably indirect
2 PDB 3D structures from and Proteopedia for PKD2L1:
3TE3 (3D)        4GIF (3D)    
Secondary accessions: O75972 Q5W039 Q9UP35 Q9UPA2
Alternative splicing: 5 isoforms:  Q9P0L9-1   Q9P0L9-2   Q9P0L9-3   Q9P0L9-4   Q9P0L9-5   (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: 

  • Glycosylation2 at Asn177, Asn207, Asn241, Asn505
  • Modification sites at PhosphoSitePlus

  • See PKD2L1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000325296   ENSP00000434019   ENSP00000436514   ENSP00000434224   ENSP00000345068  
     ENSP00000266049  

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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

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

    3 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     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
    Domain: The EF-hand domain probably mediates calcium-binding. It is not required for channel activation
    (PubMed:11959145)
    Similarity: Belongs to the polycystin family
    Similarity: Contains 1 EF-hand domain


    Find genes that share domains with PKD2L1           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: PK2L1_HUMAN, Q9P0L9
    Function: Pore-forming subunit of a ciliary calcium channel that controls calcium concentration within primary
    cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD1L1 in primary cilia and
    forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. May
    act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its
    contribution to sour taste perception is unclear in vivo and may be indirect
    Enzyme regulation: The calcium channel is gated following an off-response property by acid: gated open after the
    removal of acid stimulus, but not during acid application

         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): Selected molecular function terms (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
         
    Find genes that share ontologies with PKD2L1           About GenesLikeMe


    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 

    Find genes that share phenotypes with PKD2L1           About GenesLikeMe

    Animal Models:
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    hsa-miR-146a* hsa-miR-3156-5p
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    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
    PK2L1_HUMAN, Q9P0L9: Cell projection, cilium membrane; Multi-pass membrane protein. Cell membrane; Multi-pass
    membrane protein. Endoplasmic reticulum (By similarity). Note=Interaction with PKD1 or PKD1L3 is required for
    localization to the cell membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum3
    plasma membrane3
    cytosol1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ISS--
    GO:0005886plasma membrane IMP17944866
    GO:0009986colocalizes with cell surface ISS--
    GO:0016020membrane IDA19812697
    GO:0016021integral component of membrane NAS9748274

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    (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 PKD2L1 About    
    See pathways by source

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



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    Interactions:

        Search GeneGlobe Interaction Network for PKD2L1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for PKD2L1 (Q9P0L92, 3 ENSP000003252964) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    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
    HERPUD1ENSP000003003024STRING: ENSP00000300302
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    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:0050915sensory perception of sour taste IMP19812697

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    (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
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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--

    Selected 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)



    Find genes that share compounds with PKD2L1           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 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:

    AF094827 BU728803 NM_016112 BC025665 AF073481 AF053316 CB529429 AF092170 
    BI755892 AI217982 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™, 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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    PKD2L1 expression in normal human tissues (normalized intensities)
    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
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
    PKD2L1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PKD2L1 Protein Expression

    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for PKD2L1 gene from Selected species (see all 14)    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_426509.4  XP_426509.4 
    lizard
    (Anolis carolinensis)
    Reptilia PKD2L16
    polycystic kidney disease 2-like 1
    71(a)
    1 ↔ 1
    GL343388.1(52514-80863)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pkd2l11 polycystic kidney disease 2-like 1 67.95(n)
    70.52(a)
      100495064  XM_002936864.2  XP_002936910.2 
    zebrafish
    (Danio rerio)
    Actinopterygii pkd2l11 polycystic kidney disease 2-like 1 63.59(n)
    62.18(a)
      567026  XM_690312.5  XP_695404.3 
    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)
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    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

    Find genes that share paralogs with PKD2L1           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 PKD2L1 (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
    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
    rs127650521,2
    C,F--102048979(+) gaggtG/Tgggcc 2 -- int16Minor allele frequency- T:0.10NA WA EA 364

    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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PKD2L1
    DNA2.0 Custom Variant and Variant Library Synthesis for PKD2L1

    (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: 604532    OMIM disorders: --

    4 diseases for PKD2L1:    
    About MalaCards
    mucocutaneous leishmaniasis    kidney disease    polycystic kidney disease    leishmaniasis

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

    Find genes that share disorders with PKD2L1           About GenesLikeMe

    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)
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    PubMed articles for PKD2L1 gene, integrated from 10 sources (see all 41):
    (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. (J. Biol. Chem. 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. (Genomics 1998)
    3. The calcium-binding EF-hand in polycystin-L is not a domain for channel activation and ensuing inactivation. (PubMed id 11959145)1, 2, 9 Li Q....Chen X.Z. (FEBS Lett. 2002)
    4. 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. (Eur. J. Hum. Genet. 1999)
    5. 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. (Mamm. Genome 2000)
    6. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. (PubMed id 22359512)1, 4 Demirkan A....Schmitz G. (PLoS Genet. 2012)
    7. Crystal structure and characterization of coiled-coil domain of the transient receptor potential channel PKD2L1. (PubMed id 22193359)1, 2 Molland K.L....Yernool D.A. (Biochim. Biophys. Acta 2012)
    8. Receptor for activated C kinase 1 (RACK1) inhibits function of transient receptor potential (TRP)-type channel Pkd2L1 through physical interaction. (PubMed id 22174419)1, 2 Yang J....Chen X.Z. (J. Biol. Chem. 2012)
    9. Human metabolic individuality in biomedical and pharmaceutical research. (PubMed id 21886157)1, 4 Suhre K....Gieger C. (Nature 2011)
    10. Identification of the structural motif responsible for trimeric assembly of the C-terminal regulatory domains of polycystin channels PKD2L1 and PKD2. (PubMed id 20408813)1, 2 Molland K.L....Yernool D.A. (Biochem. J. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 9033 HGNC: 9011 AceView: PKD2L1 Ensembl:ENSG00000107593 euGenes: HUgn9033
    ECgene: PKD2L1 H-InvDB: PKD2L1

    (According to HUGE)
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      --

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

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    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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