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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
Location 8q22.1      Physical location : 96.145.948 - 96.168.912
Synonym name
  • phafin 2
  • PH and FYVE domain-containing protein 2
  • zinc finger FYVE domain-containing protein 18
  • Synonym symbol(s) ZFYVE18, PHAFIN2, FLJ13187, EAPF
    DNA
    TYPE functioning gene
    STRUCTURE 22.88 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC389676 8 LOC389676 LOC392251 8 similar to KIAA1588 protein LOC137392 8q22.1 similar to CG6405 gene product LOC389677 8 similar to RIKEN cDNA 3000004N20 PRO1905 8q22.1 hypothetical protein PRO1905 MGC26979 8q22.1 hypothetical protein MGC26979 LOC157667 8q22.1 similar to myosin regulatory light chain-like PPM2C 8q22.1 protein phosphatase 2C, magnesium-dependent, catalytic subunit CDH17 8q22.1 cadherin 17, LI cadherin (liver-intestine) GEM 8q22.3 GTP binding protein overexpressed in skeletal muscle LOC392252 8 similar to ribosomal protein S4, X-linked RAD54B 8q21.3-q22 similar to ribosomal protein S4, X-linked FSBP 8q22.1 fibrinogen silencer binding protein DKFZP434I116 8q22.1 DKFZP434I116 protein FLJ20171 8q22.1 hypothetical protein FLJ20171 LOC286148 8q22.1 hypothetical protein LOC286148 FLJ20530 8q22.1 hypothetical protein FLJ20530 CCNE2 8q22.1 cyclin E2 LOC392253 8 similar to Ac2-210 TP53INP1 8q22 tumor protein p53 inducible nuclear protein 1 MGC40214 8q22.1 hypothetical protein MGC40214 PLEKHF2 8q22.1 pleckstrin homology domain containing, family F (with FYVE domain) member 2 LOC157657 8q22.1 hypothetical protein LOC157657 LOC392254 8 similar to glyceraldehyde-3-phosphate dehydrogenase LOC392255 8 similar to growth and differentiation factor 6 UQCRB 8q22 ubiquinol-cytochrome c reductase binding protein CGI-12 8q22.1 CGI-12 protein PTDSS1 8q22 phosphatidylserine synthase 1 SDC2 8q22-q23 syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan) PGCP 8q22.2 plasma glutamate carboxypeptidase KIAA1750 8q22.1 KIAA1750 protein LOC286150 8q22.1 similar to 40S ribosomal protein S2 LYRIC 8q22.1 LYRIC/3D3 LAPTM4B 8q22.1 lysosomal associated protein transmembrane 4 beta LOC389678 8 similar to hypothetical protein LOC51249 RPS23P1 8q23 ribosomal protein S23 pseudogene 1 MATN2 8q22 matrilin 2 RPL30 8q22-q24 ribosomal protein L30 FLJ39553 8q22.2 hypothetical protein FLJ39553
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 2905 - 249 - 2010 19995552
    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