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FLASH GENE
Symbol SCARB2 contributors: mct/npt/pgu - updated : 02-06-2014
HGNC name scavenger receptor class B, member 2
HGNC id 1665
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • dileucine motif within the C-teminal cytoplasmic tail
  • putative signalling motifs
  • luminal domains that possess coiled-coil domains, which have the potential to oligomerize in a pH-dependent manner
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • CD36 family
  • CATEGORY antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,lysosome
    text type 3 membrane protein
    basic FUNCTION
  • collagen type I receptor, thrombospondin receptor
  • playing a role in photoreceptor outer segment lipid binding and uptake by RPE cells in the eye
  • mediates HDL endocytosis through aclathrin-dependent, caveolae-independent pathway
  • lysosomal-membrane protein, that may participate in membrane transportation and the reorganization of endosomal/lysosomal compartment
  • may have a role in physiological autophagy
  • playing a role as the mannose-6-phosphate-independent trafficking receptor for beta-glucocerebrosidase
  • plays a role of such a modifier in certain types of Gaucher disease
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • bound the SH3 domain of phospholipase C-gamma1
  • specific binding partner of beta-glucocerebrosidase
  • receptor for the mannose-6-phosphate (M6P) independent transport of beta-glucocerebrosidase (GBA) to the lysosome
  • SCARB2 is capable of viral binding, viral internalization, and viral uncoating
  • lysosomal activity of GBA is tightly linked to expression of its trafficking receptor, SCARB2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AMRF
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Scarb2 deficient mice showed intracellular inclusions in cerebral and cerebellar cortex, glomerular changes and ataxia
  • in Limp-2-deficient mic, an Snca dosage-dependent phenotype, including severe neurological impairments and premature death