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FLASH GENE
Symbol SH3GL3 contributors: mct - updated : 01-06-2022
HGNC name SH3-domain GRB2-like 3
HGNC id 10832
Location 15q25.2      Physical location : 84.116.090 - 84.287.491
Synonym name endophilin-A3
Synonym symbol(s) CNSA3, EEN-B2, SH3D2C, SH3P13, HsT19371
DNA
TYPE functioning gene
STRUCTURE 186.48 kb     13 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 splicing 1693 39.3 347 - 2020 32193381
EEN-B2-L1
9 splicing 1686 31.6 278 - 2020 32193381
  • EEN-B2-L2
    • 12 splicing 2015 40.2 355 - 2020 32193381
    EEN-B2-L3
    - splicing 2738 - 340 - 2020 32193381
    10 - 1844 - 355 - 2020 32193381
    11 - 2175 - 312 - 2020 32193381
    10 - 1837 - 278 - 2020 32193381
    10 - 1863 - 360 - 2020 32193381
    10 - 2024 - 312 - 2020 32193381
    9 - 1737 - 278 - 2020 32193381
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Nervousbraindiencephalonhypothalamus highly
     brainlimbic systemhippocampusdentate gyrus 
    Reproductivemale systemtestis   
     male systemprostate  moderately
    Respiratorylung    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousPurkinje cell
    Nervouspyramidal cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eye, lens, retina foveal, macular, eye, anterior segment, RPE, choroid
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one SH3 domain
  • one BAR domain
    • HOMOLOGY
    interspecies ortholog to murine Sh3d2c2
    homolog to rattus Sh3d2c1
    homolog to Drosophila endoA
    homolog to C.elegans T04D1.3
    intraspecies homolog to Src-homology 3 domain GRB2-like gene 3
    paralog to SH3GL1
    Homologene
    FAMILY endophilin family
    CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • playing a regulatory role in synaptic vesicle recycling
  • promoting formation of insoluble polyglutamine-containing aggregates
  • promotes growth and migration of colon cancers, by linking membrane dynamics to GTPase regulation
  • acts as a potent tumor suppressor in lung cancer progression
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text central nervous system development
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to synaptojanin,dynamin 1 and HDEX1P (huntingtin exon 1 protein)
  • SH3GL2, SH3GL1, and SH3GL3, are recruited to the necks of endocytic clathrin-coated pits by its curvature sensitive BAR domain and binds both dynamin and synaptojanin
  • SH3GL3 stimulates cell migration by binding the Rac GEF TIAM1 leading to activation of small GTPase
  • SH3GL3 associates with ALCAM-containing early endocytic carriers and physically interacts with the cargo
  • acts as a novel tumor suppressor in glioblastoma tumorigenesis by inhibiting STAT3 signaling
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • have a potential to serve as diagnostic and prognostic biomarker of lung cancer
    • Therapy target
    ANIMAL & CELL MODELS