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FLASH GENE
Symbol CLN8 contributors: mct/npt - updated : 12-05-2013
HGNC name ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
HGNC id 2079
Corresponding disease
CLN8 ceroid-lipofuscinosis, neuronal, 8
Location 8p23.3      Physical location : 1.711.869 - 1.734.735
Synonym name
  • putative transmembrane protein homologous to mouse mnd
  • chromosome 8 open reading frame 61
  • Synonym symbol(s) EPMR, C8orf61, FLJ39417
    DNA
    TYPE functioning gene
    STRUCTURE 22.87 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 polyA site 7185 33 286 - Ranta, Lonka (2000)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
    Lymphoid/Immunespleen   highly
    Nervousbrain    
    Reproductivefemale systemovary  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • putative transmembrane protein (? 4TM)
  • C terminal ER-retrieval signal (KKRP)
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Cln8
    Homologene
    FAMILY
  • membrane-associated proteins related to yeast Lag1p
  • CATEGORY transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text ER and ER-Golgi intermediate compartment (ERGIC)
    basic FUNCTION
  • may recycle between the ER and ER-Golgi intermediate compartment
  • plays a role in cell proliferation during neuronal differentiation and in protection against cell death (Vantaggiato 2009)
  • CLN5/CLN8 proteins are more closely related than previously believed
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CLN3, CLN6, and CLN5 complement each otherwith respect to growth and apoptosis
  • partners of CLN8 are VAPA, C14orf1/hERG28, STX8, GABARAPL2, BNIP3 and BNIP3L proteins and are associated with biologically relevant processes such as synthesis and transport of lipids, vesicular/membrane trafficking, autophagy/mitophagy and apoptosis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CLN8
    related resource Neuronal Ceroid Lipofuscinoses NCL Mutations
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Mnd mouse,motor neuron degeneration,a naturally occuring mouse neuronal ceroid lipofuscinosis