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FLASH GENE
Symbol CLIP2 contributors: mct/npt - updated : 12-6-2009
HGNC name CAP-GLY domain containing linker protein 2
HGNC id 2586
Location 7q11.23      Physical location : 73.703.804 - 73.820.272
Synonym name
  • Williams-Beuren syndrome, critical region, expressed sequence 4
  • cytoplasmic linker protein 115
  • restin-like in the Williams-Beuren critical region, with WBSCR3 and WBSCR4 representing parts of CYLN2
  • cytoplasmic linker 2
  • Williams-Beuren syndrome chromosome region 3
  • Synonym symbol(s) WBSCR4, KIAA0291, CLIP-115, CYLN2, CLIP, MGC11333, WSCR4, WBSCR3, CLIP, WSCR3
    DNA
    TYPE functioning gene
    STRUCTURE 116.47 kb     17 Exon(s)
    MAPPING cloned Y linked N status provisional
    regionally located located in the Williams-Beuren critical region with WBSCR4 representing parts of CYLN2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 5563 116 1046 adult brain Osborne (1996)
    16 - 5458 - 1011 - Osborne (1996)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus   highly
    Cardiovascularheart   moderately
    Endocrinepancreas   moderately
    Nervousbrain   highly
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Lymphoid    
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two N terminal microtubule binding domains
  • a large coiled-coil alpha helical domain
  • a cysteine-rich tail
  • HOMOLOGY
    interspecies homolog to murine Cyln2
    Homologene
    FAMILY
  • CAP-Gly family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytoskeleton,microtubule
    text cytoplasmic linker 2, binding endosomes to microtubules located
    basic FUNCTION
  • binding endosomes to microtubules located
  • mediating the interaction between specific membranous organelles and microtubules
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    included in the Williams-Beuren commonly deleted region
    constitutional     --other  
    its haploinsufficiency by itself does not have apparent clinical consequences in WBS, but support a pivotal role of GTF2I and GTF2IRD1 in the visual-spatial and cognitive aspects of the WBS phenotype
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS