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

PKD1L2 Gene

protein-coding   GIFtS: 53
GCID: GC16M081135

Polycystic Kidney Disease 1-Like 2

  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 1-Like 21 2     polycystin-1L22
PC1L22 3     KIAA18793
PC1-Like 2 Protein2 3     Polycystin-1L23
Polycystic Kidney Disease Protein 1-Like 22     

External Ids:    HGNC: 217151   Entrez Gene: 1147802   Ensembl: ENSG000001664737   OMIM: 6078945   UniProtKB: Q7Z4423   

Export aliases for PKD1L2 gene to outside databases

Previous GC identifers: GC16M080885 GC16M080914 GC16M079691 GC16M066891


(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 PKD1L2 Gene:
This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane
domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase,
alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. Alternative splicing
results in multiple transcript variants. (provided by RefSeq, Jun 2013)

GeneCards Summary for PKD1L2 Gene: 
PKD1L2 (polycystic kidney disease 1-like 2) is a protein-coding gene. Diseases associated with PKD1L2 include kidney disease, and polycystic kidney disease, and among its related super-pathways are Peptide GPCRs. GO annotations related to this gene include carbohydrate binding and calcium ion binding. An important paralog of this gene is PKD2.

UniProtKB/Swiss-Prot: PK1L2_HUMAN, Q7Z442
Function: May function as an ion-channel regulator. May function as a G-protein-coupled receptor




(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_000016.9  NC_018927.2  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PKD1L2 gene promoter:
         Max1   LHX3b/Lhx3b   HTF   MyoD   LCR-F1   S8   GATA-6   LHX3a/Lhx3a   Sox9   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPKD1L2 promoter sequence
   Search SABiosciences Chromatin IP Primers for PKD1L2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PKD1L2


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

Entrez Gene cytogenetic band: 16q23.2   Ensembl cytogenetic band:  16q23.2   HGNC cytogenetic band: 16q23.2

PKD1L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PKD1L2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M081135:  view genomic region     (about GC identifiers)

Start:
81,134,480 bp from pter      End:
81,253,975 bp from pter
Size:
119,496 bases      Orientation:
minus strand

1 alternative location:
Chr16- 81,204,345-81,253,975     

(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: PK1L2_HUMAN, Q7Z442 (See protein sequence)
Recommended Name: Polycystic kidney disease protein 1-like 2 precursor  
Size: 2459 amino acids; 272575 Da
Subunit: May interact via its C-terminus with GNAS and GNAI1
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Developmental stage: Expressed in fetal heart
Sequence caution: Sequence=AAQ73173.1; Type=Frameshift; Positions=2113, 2117; Sequence=AAQ73173.1;
Type=Frameshift; Positions=2114, 2218; Sequence=BAB67772.1; Type=Erroneous initiation; Note=Translation
N-terminally shortened; Sequence=BAC05222.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q6UEE1 Q6ZN46 Q6ZSP2 Q8N1H9 Q96CL2 Q96Q08
Alternative splicing: 7 isoforms:  Q7Z442-1   Q7Z442-2   Q7Z442-3   Q7Z442-4   Q7Z442-5   Q7Z442-6   Q7Z442-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PKD1L2: NX_Q7Z442

Explore proteomics data for PKD1L2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q7Z442

  • PKD1L2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PKD1L2 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001070248.1  NP_001265352.1  NP_001265354.1  NP_443124.3  

    ENSEMBL proteins: 
     ENSP00000434644   ENSP00000434417   ENSP00000436309   ENSP00000436389   ENSP00000432818  
     ENSP00000337397  

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    Cloud-Clone Corp. Proteins for PKD1L2 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    PKD1L2 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
    5/11 InterPro protein domains (see all 11):
     IPR002859 PKD/REJ-like
     IPR000922 Lectin_gal-bd_dom
     IPR001024 LipOase_LH2
     IPR008976 Lipase_LipOase
     IPR003915 PKD_2

    Graphical View of Domain Structure for InterPro Entry Q7Z442

    ProtoNet protein and cluster: Q7Z442

    1 Blocks protein domain: IPB000922 D-galactoside/L-rhamnose binding SUEL lectin domain

    UniProtKB/Swiss-Prot: PK1L2_HUMAN, Q7Z442
    Similarity: Belongs to the polycystin family
    Similarity: Contains 1 C-type lectin domain
    Similarity: Contains 1 GPS domain
    Similarity: Contains 1 PLAT domain
    Similarity: Contains 1 REJ domain
    Similarity: Contains 1 SUEL-type lectin domain


    PKD1L2 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: PK1L2_HUMAN, Q7Z442
    Function: May function as an ion-channel regulator. May function as a G-protein-coupled receptor

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0030246carbohydrate binding IEA--
         
    PKD1L2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PKD1L2:
     Decreased p24 protein expressi 

    Animal Models:
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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 PKD1L2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q
    Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q0.46
    2Adenylate cyclase-activating neuropeptides
    Adenylate cyclase-activating neuropeptides

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for PKD1L2
        Adenylate cyclase-activating neuropeptides
    Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q





    PKD1L2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PKD1L2

    1 Interacting protein for PKD1L2 (Q7Z4423) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SHC1P293533I2D: score=2 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport IEA--
    GO:0007218neuropeptide signaling pathway IEA--

    PKD1L2 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PKD1L2 (PK1L2)

    Search CenterWatch for drugs/clinical trials and news about PKD1L2 / PK1L2

    (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 PKD1L2 gene (5 alternative transcripts): 
    NM_001076780.1  NM_001278423.1  NM_001278425.1  NM_052892.3  NM_182740.1  

    Unigene Cluster for PKD1L2:

    Polycystic kidney disease 1-like 2
    Hs.413525  [show with all ESTs]
    Unigene Representative Sequence: NM_052892
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000534447 ENST00000534142(uc002fgf.1) ENST00000533478(uc002fgg.1)
    ENST00000525539(uc002fgh.1) ENST00000530363 ENST00000299598 ENST00000529079
    ENST00000531391(uc002fgi.3) ENST00000526632 ENST00000527937(uc002fgk.1 uc002fgl.1)
    ENST00000529791 ENST00000337114(uc002fgj.3)
    miRNA
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    Additional mRNA sequence: 

    AK098052.1 AK127266.1 AK131378.1 AL832135.1 AY164483.1 AY371495.1 BC004562.2 BC014157.2 
    CR627341.1 

    8 DOTS entries:

    DT.100649542  DT.92028011  DT.100740302  DT.102822899  DT.99930336  DT.97836505  DT.100001488  DT.95291811 

    24/37 AceView cDNA sequences (see all 37):

    AA669315 BE503919 BX115637 BM840998 BM841886 BC004562 BC014157 BC014120 
    CR627341 AK131378 CA438401 BG718223 AK098052 AY371495 AI825072 AY164483 
    AK127266 BI861303 CB266350 CA397713 AA157971 BM841509 NM_182740 BG104257 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for PKD1L2 (see all 9)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^
    SP1:                                                                    -           -                                   -                                       
    SP2:                                -                                   -                                                                                       
    SP3:                                                                                                                                                            
    SP4:                                                                    -                                                                                       
    SP5:                                                                                                                                                            

    ExUns: 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b ^ 32 ^ 33a · 33b ^ 34a · 34b ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41a · 41b
    SP1:                                            -     -                       -                       -                 -                                 
    SP2:                                                                                                                                                      
    SP3:                                                  -                       -                       -                 -                                 
    SP4:                                                                                                                                                      
    SP5:                                -           -     -                       -     -                                                                     


    ECgene alternative splicing isoforms for PKD1L2

    (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

    PKD1L2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCAAATAAA
    PKD1L2 Expression
    About this image


    See PKD1L2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PKD1L2

    SOURCE GeneReport for Unigene cluster: Hs.413525

    UniProtKB/Swiss-Prot: PK1L2_HUMAN, Q7Z442
    Tissue specificity: Expressed in all tissues tested including brain, placenta, mammary gland, testis, lung and
    liver. Highest expression in skeletal muscle. Isoform 2 is expressed in heart and kidney

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKD1L2

    (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 chordates.

    Orthologs for PKD1L2 gene from 3/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pkd1l21 , 5 polycystic kidney disease 1 like 21, 5 79.98(n)1
    74.3(a)1
      8 (63.45 cM)5
    766451  NM_029686.41  NP_083962.41 
     1169956795 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.326802 Xenopus laevis transcribed sequence with weak similarity more 77.66(n)    BJ068659.1 
    zebrafish
    (Danio rerio)
    Actinopterygii im:71384751 im:7138475 58.32(n)
    53.2(a)
      497373  XM_002662913.1  XP_002662959.1 


    ENSEMBL Gene Tree for PKD1L2 (if available)
    TreeFam Gene Tree for PKD1L2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PKD1L2 gene
    PKD22  PKDREJ2  PKD12  PKD2L22  PKD2L12  PKD1L12  
    3 SIMAP similar genes for PKD1L2 using alignment to 5 protein entries:     PK1L2_HUMAN (see all proteins):
    DKFZp686J19100    PKD2L2    PKD1L3

    PKD1L2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PKD1L2
    PGOHUM00000258025


    (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

    10/5222 SNPs in PKD1L2 are shown (see all 5222)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1119486631,2
    C--81137974(+) CTATTA/-AAAAA 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs356566991,2
    C--81137975(+) AAAAAA/-GAAGG 1 -- int11Minor allele frequency- -:0.00NA 2
    rs30602411,2
    C--81138753(+) ttttt-/TT    
       
    /TTTT
    agaca
    1 -- int11NA 2
    rs340992801,2
    C--81140412(+) TGTTC-/TGTGTTA 1 -- int10--------
    rs711436741,2
    C--81140413(-) TTAAC-/ACAGAAC 1 -- int11Minor allele frequency- AC:0.00NA 2
    rs2005025231,2
    C--81140413(-) TAACAC/GAGAAC 1 -- int10--------
    rs576757571,2
    C--81140415(+) TCTGT-/G/GT  
            
    TAAGT
    1 -- int10--------
    rs357890541,2
    C--81140432(+) TTAGTA/-GAAAT 1 -- int11Minor allele frequency- -:0.00NA 2
    rs673237051,2
    C--81140433(+) TAGTG-/AAAATA 1 -- int10--------
    rs105512261,2
    C--81143613(+) GTATA-/TTTG  
            
    TTTGT
    1 -- int10--------

    HapMap Linkage Disequilibrium report for PKD1L2 (81134480 - 81253975 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/32 variations for PKD1L2 (see all 32):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2714776CNV Deletion23290073
    esv2672172CNV Deletion23128226
    esv2714777CNV Deletion23290073
    dgv510e199CNV Deletion23128226
    esv2668114CNV Deletion23128226
    esv2664656CNV Deletion23128226
    esv2714775CNV Deletion23290073
    esv2672468CNV Deletion23128226
    esv1317764CNV Deletion17803354
    esv2662178CNV Deletion23128226

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607894    OMIM disorders: --

    2 diseases for PKD1L2:    About MalaCards
    kidney disease    polycystic kidney disease

    1 disease from the University of Copenhagen DISEASES database for PKD1L2:
    Polycystic kidney disease

    PKD1L2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PKD1L2
    Human Genome Epidemiology (HuGE) Navigator: PKD1L2 (3 documents)

    Export disorders for PKD1L2 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 PKD1L2 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with PKD1L2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of two novel polycystic kidney disease-1-like genes in human and mouse genomes. (PubMed id 12782129)1, 2, 3 Li A.... Somlo S. (2003)
    2. Fine mapping and association studies of a high-densit y lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian su bjects. (PubMed id 19844255)1, 4 Dastani Z....Genest J. (2010)
    3. Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. (PubMed id 18951430)1, 4 Anney R.J....Gill M. (2008)
    4. Polycystin-1L2 is a novel G-protein-binding protein. (PubMed id 15203210)1, 2 Yuasa T.... Zhou J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PubMed id 11572484)1, 2 Nagase T....Ohara O. (2001)
    7. Genome-wide association for smoking cessation success: participants in the Patch in Practice trial of nicotine replacement. (PubMed id 20235792)4 Uhl G.R....Munafo M.R. (2010)
    8. Genetic associations of variants in genes encoding HI V-dependency factors required for HIV-1 infection. (PubMed id 21083371)4 Chinn L.W....O'Brien S.J. (2010)
    9. Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study. (PubMed id 19185284)4 Ferrucci L....Frayling T.M. (2009)
    10. Upregulation of PKD1L2 provokes a complex neuromuscul ar disease in the mouse. (PubMed id 19578180)1 Mackenzie F.E....Blanco G. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    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: 114780 HGNC: 21715 AceView: PKD1L2 Ensembl:ENSG00000166473 euGenes: HUgn114780
    ECgene: PKD1L2 H-InvDB: PKD1L2

    (According to HUGE)
    About This Section
    HUGE: KIAA1879

    (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 PKD1L2 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 PKD1L2 gene:
    Search GeneIP for patents involving PKD1L2

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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