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FLASH GENE
Symbol PKD1L2 contributors: mct/npt - updated : 22-11-2016
HGNC name polycystic kidney disease 1-like 2
HGNC id 21715
Location 16q23.2      Physical location : 81.134.483 - 81.253.975
Synonym name
  • PC1-like 2 protein
  • polycystin 1-like 2
  • Synonym symbol(s) FLJ45333, KIAA1879, DKFZp686J19100, PC1L2
    DNA
    TYPE functioning gene
    STRUCTURE 119.49 kb     45 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text various alternative splicing forms with two translation initiation sites (Yuasa 2004)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    43 splicing 7624 272 2459 - Li, Yuasa (2004)
  • a small receptor for egg jelly domain, a G-protein-coupled receptor proteolytic site, an LH2/PLAT, and 11 putative transmembrane domains, as well as a number of rhodopsin-like G-protein-coupled receptor signatures
  • 18 - 3427 - 991 - Yuasa (2004)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivestomach   highly
    Reproductivefemale systemovary  lowly
    Skin/Tegumentskin   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a small receptor for egg jelly domain
  • a G-protein-coupled receptor proteolytic site
  • an LH2/PLAT
  • eleven putative transmembrane domains
  • a number of rhodopsin-like G-protein-coupled receptor signatures
  • HOMOLOGY
    Homologene
    FAMILY
  • polycystin family
  • TRPP family of proteins
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text primarily associates with endogenous fatty acid synthase in normal skeletal muscle, and these proteins co-localize to costameric regions of the muscle fibre (Mackenzie 2009)
    basic FUNCTION
  • may act as G-protein-coupled receptors (Yuasa 2004)
  • first transient receptor potential polycystic (TRPP) channel to be associated with neuromuscular function (Mackenzie 2009)
  • large, complex protein, predicted to act as an ion channel and binding to two G-proteins (Mackenzie 2009)
  • may be involved in defective fatty acid synthesis and potential genetic risk factor and as a precipitating cause of neuromuscular disorders (Mackenzie 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling neurotransmission
    neuropeptide signaling pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, other,
  • Ca2+
  • sugar
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    ectopic expression of Pkd1l2 in transgenic mice reproduced the ostes myopathic changes and, indeed, caused severe muscle atrophy in Tg(Pkd1l2)/Tg(Pkd1l2) mice (Mackenzie 2009)