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FLASH GENE
Symbol SEPT2 contributors: mct/shn - updated : 20-11-2010
HGNC name septin 2
HGNC id 7729
Location 2q37.3      Physical location : 242.254.722 - 242.293.439
Synonym name
  • neural precursor cell expressed developmentally down-regulated protein 5
  • neural precursor cell expressed, developmentally down-regulated 5
  • septin-2
  • Synonym symbol(s) KIAA0158, DIFF6, NEDD5, Pnutl3, hNedd5
    DNA
    TYPE functioning gene
    STRUCTURE 38.00 kb     13 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D2S395 - D2S140 - SEPT2 - D2S2585 - qter
    RNA
    TRANSCRIPTS type messenger
    text Variants 1, 2, 3 and 4 encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 splicing 3396 - 361 - -
    13 splicing 3497 - 361 - -
    14 splicing 3598 - 361 - -
    13 splicing 3311 - 361 - -
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  highly
     stomach    
    Endocrineparathyroid   highly
    Hearing/Equilibriumear   highly
    Reproductivefemale systembreastmammary gland  
     female systemuterus  predominantly
     male systemtestis   
    Urinarybladder    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • domains rich in basic residues
  • an ATP/GTP binding motif
  • C-terminal domain, which is often predicted to adopt a coiled-coil conformation, at least in part
  • HOMOLOGY
    interspecies ortholog to Sept2, Mus musculus
    ortholog to Sept2, Rattus norvegicus
    ortholog to sept2, Danio rerio
    ortholog to SEPT2, Pan troglodytes
    intraspecies homolog to Diff6
    Homologene
    FAMILY septin family of guanosine triphosphatases
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • maybe involved in cytokinesis
  • essential for retaining receptor-signaling pathways in the primary cilium
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • SEPT2 forms a 1:1:1 complex with SEPT7 and SEPT9 and the three members of this complex colocalize along the length of the axoneme
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    GTP binding
    protein
  • S100 calcium binding protein A4, S100A4
  • septin 6 and 7
  • phosphoinositide-3-kinase, regulatory subunit 2 (beta), PIK3R2
  • MAP4, which is a binding partner of SEPT2, controls the accessibility of septins to microtubules
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    t(2;11)(q37;q23) with fusion of MLL and SEPT2 in acute myeloid leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • knockdown of SEPT2 causes stress fibers to disintegrate and cells to lose polarity
  • depletion of SEPT2 result in loss of ciliary membrane protein localization and Sonic hedgehog signal transduction, and inhibited ciliogenesis