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FLASH GENE
Symbol SORCS2 contributors: shn/npt - updated : 07-07-2020
HGNC name sortilin-related VPS10 domain containing receptor 2
HGNC id 16698
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   lowly Homo sapiens
Endocrineadrenal gland   lowly Homo sapiensFetal
Lymphoid/Immunethymus   lowly
Nervousbrainhindbraincerebellum highly Homo sapiens
 braindiencephalonthalamus   Mus musculus
 brainlimbic systemhippocampus   Mus musculus
Urinarykidney   highlyHomo sapiensFetal
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  highly Homo sapiens
Muscularstriatumskeletal lowly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Nervouspyramidal cell Homo sapiens
NervousSchawnn cell Mus musculus
cell lineage
cell lines
fluid/secretion
at STAGE
Text eye, retina
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal VPS10 domain,
  • leucine rich repeat domain
  • transmembrane domain
  • intracellular domain
  • 9 BNR repeats
  • functional tyrosine-based motifs (Y10AQV/m13)
  • HOMOLOGY
    interspecies ortholog to Sorcs2, Mus musculus
    ortholog to Sorcs2, rattus norvegicus
    ortholog to SORCS2, pan troglodytes
    Homologene
    FAMILY
  • vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins
  • Vps10p-domain receptor gene family
  • CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • required for protein transport from the Golgi apparatus to the endosomes
  • functioning as a sorting receptor in the Golgi compartment and as a clearance receptor on the cell surface
  • might be involved in developmental or tissue-specific regulation of gene expression
  • with SORCS2 and SORCS3, have diverse, but partly overlapping functions in the developing and mature central nervous system (Hermey 2004)
  • SORL1, SORCS1, SORCS2, and SORCS3) play pleiotropic functions in protein trafficking and intracellular and intercellular signaling in neuronal and non-neuronal cells
  • regulates dopaminergic wiring and is processed into an apoptotic two-chain receptor in peripheral glia
  • sortilin, SORL1, SORCS1, SORCS2, and SORCS3) modulate neurotrophic signaling pathways
  • critical roles in the control of neuronal viability and function
  • SORCS2 plays a role upstream of the intrinsic polarity pathway and there are differences between hair cell types in the deployment of the machinery that generates a precisely organised hair bundle
  • protective role for SORCS2 in neuronal stress response (
  • is required for social memory
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component 8 intrachain disulfide bonds
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SORCS2 is an interacting protein of mutant HTT
  • SORCS2-mediated GRIN2A trafficking regulates motor deficits in Huntington's disease
  • SORCS2 acts as sorting receptor that sustains cell surface expression of the neuronal amino acid transporter SLC1A1 to facilitate import of cysteine, required for synthesis of the reactive oxygen species scavenger glutathione
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Sorcs2-/- mice displayed impaired formation of long-term memory, increased risk taking and stimulus seeking behavior, enhanced susceptibility to stress and impaired prepulse inhibition
  • SorCS2-deficient mice exhibit oxidative brain damage that coincides with enhanced neuronal cell death and increased mortality during epilepsy