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FLASH GENE
Symbol PKD2L1 contributors: mct/shn - updated : 22-11-2018
HGNC name polycystic kidney disease 2-like 1
HGNC id 9011
Location 10q24.31      Physical location : 102.047.902 - 102.090.243
Synonym name
  • polycystic kidney disease (polycystin)-like
  • polycystic kidney disease 2-like 1 protein
  • polycystin-2 homolog; polycystin-2L1
  • polycystin-L
  • polycystin-L1
  • transient receptor potential cation channel, subfamily P, member 3
  • Synonym symbol(s) PKDL, PCL, PKD2L, P2L1, TRPP3
    DNA
    TYPE functioning gene
    STRUCTURE 58.89 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D10S1726 - D10S198 - PKD2L1 - D10S1266 - D10S192 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 3060 - 805 - 2019 31315976
    16 - 2812 - 758 - 2019 31315976
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly Homo sapiens
    Nervousbrain   moderately Homo sapiens
    Respiratorylung   moderately Homo sapiens
    Urinarykidney   lowly Homo sapiens
    Visualeye   lowly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Urinaryduct cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text highly, in tissues including kidney and liver
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • PKD2L1 N terminus interacts with the receptor for activated C kinase 1 (RACK1), a scaffolding/anchoring protein implicated in various cellular functions , and PKD2L1 N-terminus is critical for dimerization
  • six transmembrane segments (6TM)
  • a large extracellular loop between TM5 and 6
  • a C terminal tail with a EF-hand-like domain, C-terminal fragments having roles in its channel function , and C-terminal coiled-coil domain forms a trimer in solution and in crystal, and has a crucial role in the assembly and surface expression of the PKD1L3/TRPP3 complex
  • HOMOLOGY
    interspecies ortholog to Pkd2l1, Mus musculus
    ortholog to Pkd2l1, Rattus norvegicus
    ortholog to pkd2l1, Danio rerio
    ortholog to PKD2L1, Pan troglodytes
    intraspecies homolog to PKD2,highly
    Homologene
    FAMILY polycystin protein family
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • may act as a transducer of calcium-mediated signalling
  • calcium modulated non selective cation channel permeable to Na+, K+, Ca++ ions
  • transient receptor potential (TRP) channel members
  • PKD1L3 and PKD2L1 heteromers may function as sour taste receptors
  • is also part of an acid-triggered off-response cation channel complex
  • is involved in hedgehog signaling, intestinal development, and sour tasting
  • PKD2L1 and PKD2L1/PKD1L3 channels share the PKD2L1 trimerization process
  • influx-operated Ca(2+) entry via PKD2L1 and PKD1L3 Channels facilitates sensory responses to polymodal transient stimuli
  • selectivity filter is partially selective to calcium ions (Ca(2+)) moving into the cell, but blocked by high internal Ca(2+)concentrations, a unique feature of this transient receptor potential (TRP) channel family member
  • PKD2L1 take part in hedgehog signaling in renal primary cilia and sour tasting coupling with PKD1L3
  • inhibitory effect of PKD2L1 on cardiac hypertrophy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • protein constituent of integral membrane
  • part of PKD1L3/PKD2L1 channel (a new type of ion channel, designated as an off-channel; activation of PKD1L3/PKD2L1 channels might occur shortly after acid stimulation, as a slight increase in pH from the initial acidification at pH 2.5 is sufficient to open the channels)
  • PKD1L1-PKD2L1 heteromeric channel establishes the cilia as a unique calcium compartment within cells that modulates established hedgehog pathways
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Troponin I
  • polycystic kidney disease 1-like 3, PKD1L3
  • PKD1L1-PKD2L1 acts as a ciliary calcium channel controlling ciliary calcium concentration and thereby modifying SMO-activated GLI2 translocation and GLI1 expression
  • PKD1L3, is a protein that associates with PKD1L2 in taste cells and may play a role in sour taste
  • PKD1L3 associates with PKD2L1 in taste cells and may play a role in sour taste
  • cell & other
    REGULATION
    activated by by various acids when coexpressed in heterologous cells but not by other classes of tastants
    inhibited by RACK1 (RACK1 inhibits the function of PKD2L1 channel on the plasma membrane in addition to reducing its total and plasma membrane expression)
    Other downregulated in adult
    calcium modulated
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    deleted in mice with kidney and retinal defects