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FLASH GENE
Symbol UBQLN2 contributors: mct - updated : 16-12-2010
HGNC name ubiquilin 2
HGNC id 12509
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