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FLASH GENE
Symbol UBQLN2 contributors: mct - updated : 16-12-2010
HGNC name ubiquilin 2
HGNC id 12509
Corresponding disease
ALS15 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
Location Xp11.21      Physical location : 56.590.025 - 56.593.442
Synonym name
  • Nedd4 binding protein 4
  • ubiquilin-like 2
  • DSK2 homolog
  • ubiquitin-like product Chap1/Dsk2
  • protein linking IAP with cytoskeleton 2
  • Synonym symbol(s) CHAP1, DSK2, PLIC2, LIC-2, N4BP4, PLIC-2, RIHFB2157, CHAP1/DSK2, FLJ10167, FLJ56541
    DNA
    TYPE functioning gene
    STRUCTURE 3.42 kb     1 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
    1 - 3418 65.6 624 - 2000 10894951
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemprostate  highly
    Respiratorylung   highly
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal sequence that is very similar to ubiquitin, called the ubiquitin-like domain (UBL)
  • a more variable central domain containing several heat shock chaperonin-binding motifs (STI1 repeats)
  • a conserved 50 AAs sequence called a ubiquitin-associated domain (UBA)
  • a C-terminal ubiquitin-associated domain
  • HOMOLOGY
    Homologene
    FAMILY ubiquitin-like protein family (ubiquilins)
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • potentially linking the ubiquitination machinery to the proteasome
  • involved, with RAD23, in spindle pole body duplication
  • involved in the ubiquitin-proteasome proteolytic pathway
  • involved in the regulation of cell survival during starvation
  • protects cells against starvation-induced cell death propagated by overexpression of mutant Alzheimer disease PS2N141I protein
  • a possible function of ubiquilin might be to bind and transport ubiquitinated proteins to autophagosomes
  • regulates the degradation of ubiquitinated proteins
  • likely cooperates with FAF2 to transport defective proteins from the endoplasmic reticulum to the cytosol for degradation, and this cell-protective function is disturbed by pathogenic mutation of UBQLN2
  • CELLULAR PROCESS cell life, cell death/apoptosis
    nucleotide
    protein, ubiquitin dependent proteolysis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • associating with both UBQLN1, proteasome and ubiquitin ligase to form a large complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • bind the ATPase domain of the Hsp70-like STCH protein
  • associate with both proteasomes and ubiquitin ligases
  • interaction between TARDBP and UBQLN2 may underlie the pathogenesis of ALS and ALS/dementia, and possibly other neurodegenerative disorders as well
  • interacted with ubiquitin regulatory X domain-containing protein 8 (FAF2) and this interaction was impaired by pathogenic mutation of UBQLN2
  • cell & other
    REGULATION
    Other function may be regulated or mediated through proteasomal degradation pathways
    ASSOCIATED DISORDERS
    corresponding disease(s) ALS15
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    leading to increased accumulation of full-length PSEN proteins
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS