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FLASH GENE
Symbol TSPAN33 contributors: mct - updated : 15-04-2016
HGNC name tetraspanin 33
HGNC id 28743
Location 7q32.1      Physical location : 128.784.711 - 128.809.532
Synonym name
  • penumbra
  • proerythroblast new membrane
  • Synonym symbol(s) PEN, TSPAN-33
    DNA
    TYPE functioning gene
    STRUCTURE 24.98 kb     8 Exon(s)
    MAPPING cloned Y linked   status
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 2937 - 283 - 2007 17158226
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immuneactivated B lymphocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Penumbra (97 p100)
    Homologene
    FAMILY
  • TspanC8 subfamily
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • has a positive function in erythropoiesis and its deletion or mutation may result in anemia
  • with others TspanC8 tetraspanins have a conserved function in the regulation of ADAM10 trafficking and activity, thereby positively regulating Notch receptor activation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • is targeted to the cell surface and forms disulfide-bonded homodimers
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ADAM10 associates directly with all members (TSPAN5, TSPAN10, TSPAN14, TSPAN15, TSPAN17 and TSPAN33) of a subgroup of tetraspanins having eight cysteines in the large extracellular domain and referred to as TSPANC8
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    expressed in several lymphomas including Hodgkin and Diffuse large B cell lymphoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • may be used as a diagnostic biomarker or as a target for therapeutic antibodies for treatment of certain B cell lymphomas or autoimmune diseases
  • Therapy target
    ANIMAL & CELL MODELS
  • Penumbra(-/-) mice develop massive splenomegaly, basophilic macrocytic red blood cells, and anemia as they age