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FLASH GENE
Symbol RUSC2 contributors: mct - updated : 11-01-2017
HGNC name RUN and SH3 domain containing 2
HGNC id 23625
Corresponding disease
MRMC mental retardation and secondary microcephaly
Location 9p13.3      Physical location : 35.490.006 - 35.561.894
Synonym name
  • cDNA sequence,expressed in brain,>100kDa
  • interacting protein of Rab1
  • iporin
  • Synonym symbol(s) KIAA0375, IPORIN
    DNA
    TYPE functioning gene
    STRUCTURE 73.90 kb     12 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 5380 161 1516 - 2004 15375525
    12 - 5636 - 1516 - 2004 15375525
    - - 3393 - 638 - 2004 15375525
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly Homo sapiens
    Skin/Tegumentskin    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/lining   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a minimal functional RAB35-binding site of RUSC2 (AA 982-1199), the RBD35 (Rab-binding domain specific for RAB35)
  • a RUN domain
  • a C-terminal SH3 domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • might function as a link between the targeting of ER derived vesicles, triggered by the RAB1 GTPase and a signaling pathway regulated by molecules containing SH3 and/or poly-proline regions
  • RUSC2 participates in EGFR signaling and regulates lung cancer progression
  • RUSC2 inhibits HH signaling, by preventing signaling-induced dissociation of the SUFU-GLI complexes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • RUSC1 and RUSC2 are novel components of the vertebrate HH pathway
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • is a novel RAB1A, RAB1B-interacting protein
  • GIT2 control cell polarization and direction dependent on the regulation of Golgi through RUSC2
  • RUSC2 interacts with SHD of GIT2 in various lung cancer cells, and stabilizes GIT2
  • RUSC1 and RUSC2 interact with SUFU and restrict the response of cells to HH signaling
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRMC
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerlung 
    may be a new therapeutic target against lung cancer metastasis
    ANIMAL & CELL MODELS