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FLASH GENE
Symbol SNX10 contributors: mct/pgu - updated : 02-05-2012
HGNC name sorting nexin 10
HGNC id 14974
Corresponding disease
OPTB7 osteopetrosis type B7
Location 7p15.2      Physical location : 26.331.514 - 26.413.937
Synonym symbol(s) MGC33054, SNXA
DNA
TYPE functioning gene
STRUCTURE 82.43 kb     7 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
7 - 2638 23.5 201 - 2006 17012226
7 - 2591 - 201 - 2006 17012226
5 - 2443 - 198 - 2006 17012226
4 - 2342 - 117 - 2006 17012226
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly
Nervousbrainmidbrainsubstantia nigra highly Homo sapiens
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Connectivebone    Homo sapiens
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Skeletonosteoclast Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one PX domain (phosphoinositide binding domain), which is involved in membrane trafficking and cargo sorting in endosomes
  • HOMOLOGY
    Homologene
    FAMILY
  • sorting nexin family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • involved in several stage of intracellular trafficking
  • may be involved in the regulation of endosome homeostasis
  • SNX10 and ATP6V0A1 regulate the ciliary trafficking of RAB8A, which is a critical regulator of ciliary membrane extension, and SNX10/ATP6V0A1, through the regulation of cilia formation in various organs, play an essential role during early embryonic development
  • required for osteoclast differentiation and activity
  • involved in intracellular processes such as endocytosis, protein sorting, and degradation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interact with vacuolar type H+-ATPase (ATP6V0A1) which pumps
  • protons at the osteoclast-bone interface
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OPTB7
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    SNX10 silencing inhibited TNFSF11-induced osteoclast formation and osteoclast resorption on hydroxyapatite
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS