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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
Location 4p16.1      Physical location : 7.194.373 - 7.744.563
Synonym name VPS10 domain receptor protein SORCS 2
Synonym symbol(s) KIAA1329
DNA
TYPE functioning gene
STRUCTURE 550.19 kb     27 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map pter - D4S3007 - D4S394 - SORSC2 - D4S2983 - D4S2923 - cen
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
27 - 6061 - 1159 Cerebral - cortex Neurons in layer 5 Hippocampus - Pyramidal neurons in CA2 and in the dentate gyrus Cerebellum - Purkinje cells in lobules 79 Olfactory bulbs, Amygdala Willnow 2009
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   lowly
Digestiveintestinesmall intestine  lowly
 liver   lowly
Lymphoid/Immunethymus   lowly
Nervousbrain   highly
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal lowly
Nervouscentral  highly
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
    CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    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
  • sortilin, SORL1, SORCS1, SORCS2, and SORCS3) modulate neurotrophic signaling pathways
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component 8 intrachain disulfide bonds
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS