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FLASH GENE
Symbol TSPAN6 contributors: mct - updated : 14-12-2017
HGNC name tetraspanin 6
HGNC id 11858
Corresponding disease
EFMR2 epilepsy, female restricted, with mental retardation 2
Location Xq22.1      Physical location : 99.883.794 - 99.891.794
Synonym name
  • transmembrane 4 superfamily member 6
  • tetraspan TM4SF
  • tetraspanin TM4-D
  • Synonym symbol(s) T245, TSPAN-6, TM4SF6
    DNA
    TYPE functioning gene
    STRUCTURE 9.97 kb     8 Exon(s)
    MAPPING cloned Y linked N status tentative : very preliminary evidence
    regionally located located between DXS1231 and DXS1059
    RNA
    TRANSCRIPTS type messenger
    text alternate polyadenylation sites
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 3787 - 137 - 2017 28279219
    7 - 3811 - 129 - 2017 28279219
    8 - 3895 - 157 - 2017 28279219
    8 - 3833 - 245 - 2017 28279219
    8 - 4125 - 157 - 2017 28279219
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver   highly
    Endocrinepancreas   highly
    Nervousbrain    
    Reproductivefemale systemovary  highly
     male systemprostate  highly
    Respiratorylung    
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion blood
    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
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Tm4sf6
    homolog to C.elegans T23D8.2
    intraspecies homolog to TSPAN7
    homolog to TM4SF2
    Homologene
    FAMILY transmembrane 4 superfamily or tetraspanin family
    CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • mediating signal transduction events that play a role in the regulation of cell development, activation, growth and motility
  • likely TSPAN6 affects the properties of the postsynaptic transmission rather than the presynaptic terminal
  • is a key player in the bifurcation between lysosomal-dependent degradation and exosome mediated secretion of APP-C-terminal fragments (APP-CTF)
  • CELLULAR PROCESS cell life, differentiation
    cell life, proliferation/growth
    cell communication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TSPAN6 functions as a negative regulator of the DDX58 pathway by interacting with MAVS in a ubiquitination-dependent manner
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EFMR2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    increased in AD brains and overexpression in cells exerts paradoxical effects on APP metabolism, increasing APP-C-terminal fragments (APP-CTF)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Tspan6 KO mice show normal locomotor behaviour and no defects in hippocampus-dependent memory tests