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    Pkd2l1 polycystic kidney disease 2-like 1 [ Mus musculus (house mouse) ]

    Gene ID: 329064, updated on 23-Jun-2021

    Summary

    Official Symbol
    Pkd2l1provided by MGI
    Official Full Name
    polycystic kidney disease 2-like 1provided by MGI
    Primary source
    MGI:MGI:1352448
    See related
    Ensembl:ENSMUSG00000037578
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    P; Pk; TR; PCL; PKD; Pkdl; PKD2L; TRPP3; BC046386; B830002B15
    Expression
    Biased expression in testis adult (RPKM 2.9), cerebellum adult (RPKM 1.0) and 3 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Pkd2l1 in Genome Data Viewer
    Location:
    19 C3; 19 36.91 cM
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (44136076..44235355, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (44147637..44248328, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 19 NC_000085.5 (44222127..44266932, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene CWF19-like 1, cell cycle control (S. pombe) Neighboring gene predicted gene, 52383 Neighboring gene biogenesis of lysosomal organelles complex-1, subunit 2 Neighboring gene stearoyl-coenzyme A desaturase 3 Neighboring gene stearoyl-coenzyme A desaturase pseudogene Neighboring gene uncharacterized LOC118568395 Neighboring gene predicted gene, 35183

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (3)  1 citation
    • Endonuclease-mediated (2) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables alpha-actinin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables calcium activated cation channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables calcium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables calcium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables calcium-activated potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables calcium-activated potassium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to cation channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cation channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cation channel activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cation channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to cation transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cytoskeletal protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables muscle alpha-actinin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables muscle alpha-actinin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sodium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables sodium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to sour taste receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within calcium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cation transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to acidic pH IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to pH IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in detection of chemical stimulus involved in sensory perception of sour taste IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in detection of chemical stimulus involved in sensory perception of taste IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in detection of mechanical stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in inorganic cation transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in inorganic cation transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in potassium ion transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein homotetramerization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein tetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to water IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sensory perception of sour taste ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sodium ion transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    part_of calcium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of calcium channel complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of calcium channel complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of cation channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in non-motile cilium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    polycystic kidney disease 2-like 1 protein
    Names
    polycystin-2 homolog
    polycystin-L

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_181422.3NP_852087.2  polycystic kidney disease 2-like 1 protein

      See identical proteins and their annotated locations for NP_852087.2

      Status: VALIDATED

      Source sequence(s)
      AC125101
      Consensus CDS
      CCDS29846.1
      UniProtKB/Swiss-Prot
      A2A259
      Related
      ENSMUSP00000045675.5, ENSMUST00000042026.5
      Conserved Domains (2) summary
      pfam08016
      Location:146567
      PKD_channel; Polycystin cation channel
      pfam13833
      Location:616654
      EF-hand_8; EF-hand domain pair

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000085.7 Reference GRCm39 C57BL/6J

      Range
      44136076..44235355 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011247267.3XP_011245569.1  polycystic kidney disease 2-like 1 protein isoform X1

      See identical proteins and their annotated locations for XP_011245569.1

      Conserved Domains (3) summary
      pfam08016
      Location:118538
      PKD_channel; Polycystin cation channel
      pfam18109
      Location:670703
      Fer4_24; Ferredoxin I 4Fe-4S cluster domain
      cl08302
      Location:587625
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    2. XM_036161612.1XP_036017505.1  polycystic kidney disease 2-like 1 protein isoform X1

      Conserved Domains (3) summary
      pfam08016
      Location:118538
      PKD_channel; Polycystin cation channel
      pfam18109
      Location:670703
      Fer4_24; Ferredoxin I 4Fe-4S cluster domain
      cl08302
      Location:587625
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    3. XM_036161613.1XP_036017506.1  polycystic kidney disease 2-like 1 protein isoform X1

      Conserved Domains (3) summary
      pfam08016
      Location:118538
      PKD_channel; Polycystin cation channel
      pfam18109
      Location:670703
      Fer4_24; Ferredoxin I 4Fe-4S cluster domain
      cl08302
      Location:587625
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    4. XM_006527143.4XP_006527206.1  polycystic kidney disease 2-like 1 protein isoform X1

      See identical proteins and their annotated locations for XP_006527206.1

      Conserved Domains (3) summary
      pfam08016
      Location:118538
      PKD_channel; Polycystin cation channel
      pfam18109
      Location:670703
      Fer4_24; Ferredoxin I 4Fe-4S cluster domain
      cl08302
      Location:587625
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    RNA

    1. XR_386483.4 RNA Sequence

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