Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    PKD2L1 polycystin 2 like 1, transient receptor potential cation channel [ Homo sapiens (human) ]

    Gene ID: 9033, updated on 3-Sep-2017
    Official Symbol
    PKD2L1provided by HGNC
    Official Full Name
    polycystin 2 like 1, transient receptor potential cation channelprovided by HGNC
    Primary source
    HGNC:HGNC:9011
    See related
    Ensembl:ENSG00000107593 MIM:604532; Vega:OTTHUMG00000018910
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PCL; PKDL; PKD2L; TRPP3
    Summary
    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]
    Orthologs
    Location:
    10q24.31
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (100288145..100346472, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (102047903..102090243, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene CWF19 like 1, cell cycle control (S. pombe) Neighboring gene RNA, U6 small nuclear 422, pseudogene Neighboring gene biogenesis of lysosomal organelles complex 1 subunit 2 Neighboring gene stearoyl-CoA desaturase Neighboring gene oligodendrocyte maturation-associated long intergenic non-coding RNA

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Genetic determinants influencing human serum metabolome among African Americans.
    NHGRI GWA Catalog
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    NHGRI GWA Catalog
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    NHGRI GWA Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    • Taste transduction, organism-specific biosystem (from KEGG)
      Taste transduction, organism-specific biosystemFive basic tastes are recognized by humans and most other animals - bitter, sweet, sour, salty and umami. In vertebrates, taste stimuli are detected by taste receptor cells (TRCs). At least three dis...
    • Taste transduction, conserved biosystem (from KEGG)
      Taste transduction, conserved biosystemFive basic tastes are recognized by humans and most other animals - bitter, sweet, sour, salty and umami. In vertebrates, taste stimuli are detected by taste receptor cells (TRCs). At least three dis...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    alpha-actinin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    calcium activated cation channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    calcium-activated potassium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cation channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to cation transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoskeletal protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    muscle alpha-actinin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sodium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to sour taste receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    cation transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to acidic pH ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    detection of chemical stimulus involved in sensory perception of sour taste ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    detection of mechanical stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homotrimerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sensory perception of sour taste IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sodium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    calcium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ciliary membrane IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    non-motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    polycystic kidney disease 2-like 1 protein
    Names
    polycystin-2 homolog
    polycystin-2L1
    polycystin-L
    polycystin-L1
    transient receptor potential cation channel, subfamily P, member 3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_047099.1 RefSeqGene

      Range
      21039..63379
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001253837.1NP_001240766.1  polycystic kidney disease 2-like 1 protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction at the 5' end of coding exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AF053316, AF073481, BC025665, DQ084244
      UniProtKB/Swiss-Prot
      Q9P0L9
      UniProtKB/TrEMBL
      Q1L4F0
      Conserved Domains (1) summary
      pfam08016
      Location:99520
      PKD_channel; Polycystin cation channel
    2. NM_016112.2NP_057196.2  polycystic kidney disease 2-like 1 protein isoform 1

      See identical proteins and their annotated locations for NP_057196.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF053316, AF073481
      Consensus CDS
      CCDS7492.1
      UniProtKB/Swiss-Prot
      Q9P0L9
      Related
      ENSP00000325296.3, OTTHUMP00000020283, ENST00000318222.3, OTTHUMT00000049863
      Conserved Domains (1) summary
      pfam08016
      Location:146567
      PKD_channel; Polycystin cation channel

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      100288145..100346472 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016875.1XP_016872364.1  polycystic kidney disease 2-like 1 protein isoform X1

      Conserved Domains (1) summary
      pfam08016
      Location:49470
      PKD_channel; Polycystin cation channel
    2. XM_011540323.2XP_011538625.1  polycystic kidney disease 2-like 1 protein isoform X1

      See identical proteins and their annotated locations for XP_011538625.1

      Conserved Domains (1) summary
      pfam08016
      Location:49470
      PKD_channel; Polycystin cation channel
    3. XM_011540325.2XP_011538627.1  polycystic kidney disease 2-like 1 protein isoform X2

      Conserved Domains (1) summary
      pfam08016
      Location:26447
      PKD_channel; Polycystin cation channel
    4. XM_017016876.1XP_016872365.1  polycystic kidney disease 2-like 1 protein isoform X3

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      102332503..102374685 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center