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FLASH GENE
Symbol TSPAN7 contributors: mct - updated : 05-10-2017
HGNC name tetraspanin 7
HGNC id 11854
DNA
TYPE functioning gene
STRUCTURE 127.44 kb     8 Exon(s)
text structure
  • CAG repeats
  • MAPPING cloned Y linked N status confirmed
    Map pter - XK XK - [CYBB - DXS8090 - OTC OTC - DXS1069 - DXS1116E - DXS1068 - DXS8014 - DXS8016 ] - DXS8025 - DXS1068 - DXS8113 - DXS8042 - DXS977 - DXS556 - DXS361 - cen
    Authors Zemni (00)
    Text [TM4SF2 ]
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1816 - 249 - 2017 28223337
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly
    Digestiveliver   moderately
    Endocrinepancreas   lowly
    Nervousbrainforebraincerebral cortex predominantly Homo sapiens
     braindiencephalonhypothalamus predominantly Homo sapiens
    Reproductivemale systemprostate  lowly
    Respiratorylung   moderately
    Urinarykidney   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage immature T cell
    cell lines acute myelocytic leukemia cells
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    motifs/domains
  • four hydrophobic transmembrane domains
  • four glycosylation sites
  • a presumed major extracellular domain between TMS3 and TMS4, including conserved short motifs with cysteine residues
  • HOMOLOGY
    intraspecies homolog to TSPAN6
    Homologene
    FAMILY transmembrane 4 superfamily member 2 (tetraspanin family)
    CATEGORY antigen , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • resides in the plasma membrane and early and late endosomes
  • basic FUNCTION
  • mediating signal transduction events that play a role in the regulation of cell development, activation, growth and motility
  • TSPAN7 and ATRN are associated with spermatozoa
  • in hippocampal neurons, TSPAN7 regulates AMPA receptor trafficking by limiting PICK1 accessibility to AMPA receptors, suggesting an additional mechanism for the functional maturation of glutamatergic synapses, whose impairment is implicated in intellectual disability
  • plays an important role in cytoskeletal organization required for the bone-resorbing function of osteoclasts by regulating signaling to SRC, PYK2, and microtubules
  • promoted internalization of DRD2 and its localization to endosomal compartments of the endocytic pathway
  • positive regulator of actin nucleation and stabilization, through the ARP2/3 complex
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • via its C terminus, TSPAN7 interacts with the PDZ domain of PICK1, to regulate PICK1 and GluR2/3 association and AMPA receptor trafficking
  • TSPAN7 was associated with DRD2 and reduced its surface expression by enhancing DRD2 internalization
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRX58
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       gain of function
    during osteoclastogenesis (pMID: 27416754)
    tumoral     --over  
    in multiple myeloma patients and inhibits myeloma tumour development
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS