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FLASH GENE
Symbol PLEKHM2 contributors: mct - updated : 06-02-2019
HGNC name pleckstrin homology and RUN domain containing M2
HGNC id 29131
Corresponding disease
LVNC11 left ventricular noncompaction 11
Location 1p36.21      Physical location : 16.010.826 - 16.061.262
Synonym name
  • PH domain-containing family M member 2
  • SifA (Salmonella-induced filaments A) and kinesin-interacting protein
  • novel RUN and PH domain-containing protein
  • Synonym symbol(s) SKIP, KIAA0842
    DNA
    TYPE functioning gene
    STRUCTURE 53.26 kb     20 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 4167 - 1019 - 2015 26464484
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • in uninfected cells both ARL5B and PLEKHM2 are required for lysosomes to distribute away from the microtubule-organizing center
  • ARL8B, a recently identified lysosomal GTPase, and its effector PLEKHM2, are important for tubular lysosomes (TLs) biogenesis
  • a PLEKHM2-kinesin-1 mechanism is responsible for the anterograde microtubule-dependent transport of melanosomes and lysosomes
  • lysosome adaptor
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ARL5B-GTP binds to the soluble protein PLEKHM2
  • interaction between kinesin-1 and ARL8B is mediated by PLEKHM2 and the tripartite complex drives the anterograde movement of lysosomes
  • ARL8B effector PLEKHM2 interacts with and recruits HOPS subunits to ARL8B and kinesin-positive peripheral lysosomes
  • interact with several Rabs and with kinesin-1, affecting endosomal trafficking
  • ARL8B in its GTP-bound state interacts with PLEKHM2, and ARL8B and its effector PLEKHM2 are crucial for the kinesin-dependent plus-end movement of lysosomes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LVNC11
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS