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FLASH GENE
Symbol SEMA3D contributors: mct/npt - updated : 29-11-2018
HGNC name sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D
HGNC id 10726
Location 7q21.11      Physical location : 84.624.873 - 84.751.247
Synonym name
  • collapsin 2
  • semaphorin 3D
  • Synonym symbol(s) coll-2, Sema-Z2, MGC39708
    DNA
    TYPE functioning gene
    STRUCTURE 126.38 kb     17 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
    17 - 6276 - 777 - Wolman (2007)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea  
    Reproductivemale systemtestis   
    Skin/Tegumentskin    
    Visualeyeuvea   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveinterstitialdermis  
    Epithelialbarrier liningretinal pigment epithelium (RPE)  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificfibroblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a peptide signal
  • one immunoglobulin-like C2-type domain
  • one Sema domain
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Sema3d
    homolog to rattus LOC246262
    Homologene
    FAMILY
  • semaphorin family
  • CATEGORY receptor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • induces the collapse and paralysis of neuronal growth cones
  • may be involved in regulating cell-sorting in the formation and regeneration of the periodontal attachment structure (Lallier 2004)
  • may act to repel the peripheral axons out of the spinal cord (Liu 2005)
  • classic repulsive molecule, promotes fasciculation by regulating L1CAM levels and axon-axon interactions rather than by creating a repulsive surround (Wolman 2007)
  • promotes fasciculation and modulates axon-axon interactions by regulating an adhesion molecule (Wolman 2007)
  • can function as potent anti-tumorigenic agents (but is required expression of appropriate semaphorin receptors by tumor cells) (Kigel 2008)
  • may regulate the axonal navigation of the large diameter dorsal root ganglion neurons (Takahashi 2009)
  • SEMA3D mediates the GJA1-dependent functions on cell proliferation and joint formation
  • SEMA3D functions in a common molecular pathway with GJA1
  • SEMA3D is crucial for the normal patterning of pulmonary veins, and is a crucial pulmonary venous patterning cue
  • SEMA3E, SEMA3D direct endothelial motility through distinct molecular signaling pathways
  • might function as a tumor suppressor during the formation and development of colorctal cancer
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , nervous system
    PATHWAY
    metabolism
    signaling signal transduction
    SEMA32C/SEMA3D signaling is an evolutionarily conserved regulator of enteric nervous system (ENS) development whose dys-regulation is a cause of enteric aganglionosis
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to neuropilin
  • interaction with CNTN2 (SEMA3D and CNTN2 regulate the motility and behavior of growth cones extending in their natural environment and demonstrate that two different axon branches from one neuron respond differently to guidance cues) (Liu 2005)
  • mesenchymal SEMA3D guides outgrowth of the common cardinal vein via repulsion and signals through PLXND1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in autosomal dominant (AD) familial Meniere disease (FMD)
    Susceptibility
  • to schizophrenia
  • Variant & Polymorphism SNP
  • rs2190208-rs1029564-rs17159614-rs12176601, in particular, revealed a highly significant association to schizophrenia
  • Candidate gene
    Marker
  • might become a predictive marker for the diagnosis, metastasis, and prognosis of Colorectal cancer
  • may be new prognostic marker of metastatic pancreatic ductal adenocarcinoma (PDA)
  • Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivecolon
    novel target for the prevention and treatment of Colorectal cancer
    cancerendocrinepancreas
    may be new therapeutic target in metastatic pancreatic ductal adenocarcinoma (PDA)
    ANIMAL & CELL MODELS