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FLASH GENE
Symbol PLEKHF2 contributors: mct/npt/pgu - updated : 04-09-2013
HGNC name pleckstrin homology domain containing, family F (with FYVE domain) member 2
HGNC id 20757
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines melanoma, preferentially expressed in the human hepatocellular carcinoma (HCC)
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a pleckstrin homology (PH) domain
  • a FYVE type zinc finger, (Fab1
  • YotB
    Vac1p
    EEA1) (FYVE) domain
    HOMOLOGY
    interspecies homolog to murine 1110070J07Rik
    Homologene
    FAMILY
  • Phafin protein family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endosome
    text binding to the endosome
    basic FUNCTION
  • involved in ER-related apoptotic pathway
  • suppresses the unfolded protein response by inhibiting phosphorylation of eIF2alpha
  • involved in the biogenesis of endosomes
  • regulates the structure and function of the endosomes through RAB5-dependent processes
  • by modulating the receptor density on the cell surface, can modulate the cell response to the extracellular stimulation
  • via RAB5, could also regulate the presence of membranous P-glycoprotein, which confers multi-drug resistance to cancer therapy
  • by modulating the endosomal and/or lysosomal pathway, PLEKHF1 and PLEKHF2 may function as a membrane organizer that controls (at a cellular or subcellular level) the space and time of intracellular signal propagation
  • is more functionally related to early endocytosis and early endosome recycling activity
  • controls receptor trafficking and fluid-phase transport through early endosomes by facilitating endosome fusion in concert with EEA1
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+ binding
  • protein
  • can directly activate RAB5A, RAB5B, RAB5C
  • is an interactor of the endosomal-tethering protein EEA1, and colocalized strongly with EEA1 in microdomains of the endosome membrane
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    over-expression of Phafin2 or its FYVE domain results in the formation of enlarged endosomes that are still functional for endocytosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS