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FLASH GENE
Symbol SEMA3E contributors: mct/npt - updated : 07-06-2018
HGNC name sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
HGNC id 10727
Corresponding disease
CHARGE2 CHARGE syndrome 2
Location 7q21.11      Physical location : 82.993.221 - 83.278.479
Synonym name
  • cDNA sequence, expressed in brain, 95kDa, related to murine semaphorin H
  • M-sema H
  • semaphorin 3E
  • Synonym symbol(s) SEMAH, COLL-5, M-SEMAH, M-SEMAK, KIAA0331
    DNA
    TYPE functioning gene
    STRUCTURE 285.10 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC389529 7 LOC389529 LOC392066 7 similar to 60S ribosomal protein L10 (QM protein homolog) GNAI1 7q21.3-q22.1 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 LOC346562 CD36 7q11.2 CD36 antigen (collagen type I receptor, thrombospondin receptor) SEMA3C 7q21-q31 sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C HGF 7q21.1 hepatocyte growth factor (hepatopoietin A; scatter factor) CACNA2D1 7q21.3-q22.1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 PCLO 7q11.23-q21.3 piccolo (presynaptic cytomatrix protein) LOC389530 7 similar to [Segment 1 of 2] Piccolo protein (Aczonin) SEMA3E 7q21.11-q31.33 sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E SEMA3A 2q37-qter sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A HMG17P1 7q11-q21 high-mobility group (nonhistone chromosomal) protein 17 pseudogene 1 LOC285984 7q21.12 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) SEMA3D 7q21.12 sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D LOC392067 7 similar to dynein, cytoplasmic, light peptide GRM3 7q21.1-q21.2 glutamate receptor, metabotropic 3 FLJ31340 7q21.13 hypothetical protein FLJ31340 DMTF1 7q21.1 cyclin D binding myb-like transcription factor 1 C7orf23 7q21.1-q21.2 chromosome 7 open reading frame 23 TP53AP1 7q21.1 TP53 activated protein 1 CROT 7q21.1 carnitine O-octanoyltransferase ABCB4 7q21.1 ATP-binding cassette, sub-family B (MDR/TAP), member 4 ABCB1 7q21.1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 RPIB9 7q21.13 Rap2-binding protein 9 MCFP 7q21.13 mitochondrial carrier family protein ASK 7q21.3 mitochondrial carrier family protein ADAM22 7q21.1 a disintegrin and metalloproteinase domain 22
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 6474 - 775 - 2017 27913633
    17 - 5993 - 715 - 2017 27913633
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    Hearing/Equilibriumear   highly
    Nervousbrain    
    Respiratoryrespiratory tracttrachea  highly
    Visualeyeanterior segmentiris  
     eyeretina    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualganglion cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eye, cochlea
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one SEMA domain
  • one immunoglobulin like C2 type domain
  • conjugated GlycoP
    mono polymer aggregate
    HOMOLOGY
    interspecies homolog to murine semaphorin H
    homolog to C.elegans Y54E5B.1
    Homologene
    FAMILY
  • semaphorin/collapsin family
  • CATEGORY secretory , protooncogene
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • may be involved in development
  • can function as potent anti-tumorigenic agents (but is required expression of appropriate semaphorin receptors by tumor cells) (Kigel 2008)
  • novel role of SEMA3E-PLXND1 function in modulating angiogenesis via a VEGFA-induced feedback mechanism (pMID: 21724832)
  • acts as a negative regulator of macrophage migration, which may promote macrophage retention and chronic inflammation
  • SEMA3E, SEMA3D direct endothelial motility through distinct molecular signaling pathways
  • SEMA3E controls cell migration and invasiveness in cancer cells
  • SEMA3E could be considered an essential regulatory mediator involved in modulation of neutrophil migration throughout the course of neutrophilic inflammation
  • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
  • SEMA3E-PLXND1 signaling is involved in the development of choroidal neovascularization (CNV)
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ligand of PLXND1 (interacting during the formation of proprioceptive sensory–motor reflex circuits) (Pecho-Vrieseling 2009)
  • IQSEC1 mediates SEMA3E-induced ARF6 activation in endothelial cells
  • SEMA3E acts as a chemoattractant for macrophages, with TP53-induced upregulation of SEMA3E expression provoking adipose tissue inflammation and systemic insulin resistance in association with dietary obesity
  • SH3BP1 mediates SEMA3E-induced cell collapse through interaction with PLXND1 and regulation RAC1 activity
  • SEMA3E is an essential gene for GNRH1 neuron development
  • SEMA3E/PLXND1 modulates Immunological synapse (IS) formation and Ag-scanning activities of thymocytes within thymic tissues
  • RORA is a novel transcriptional regulator of SEMA3E-mediated neurovascular coupling in pathological retinal angiogenesis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CHARGE2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    expression inversely correlated with tumor progression, with no detectable staining in melanoma metastasis (Roodink 2008)
    tumoral     --over  
    in human pancreatic cancer, and that high SEMA3E levels are associated with tumor progression and poor survival
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • may be a suitable prognostic marker for pancreatic cancer
  • Therapy target
    SystemTypeDisorderPubmed
    cancerendocrinepancreas
    therapeutic target for pancreatic cancer
    ANIMAL & CELL MODELS