DISEASES

Disease-gene associations mined from literature

Literature associating UBQLN2 and Brown-Vialetto-Van Laere syndrome

UBQLN2 [ENSP00000345195]

Protein linking IAP with cytoskeleton 2; Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin- proteasome system (UPS), autophagy and the endoplasmic reticulum- associated protein degradation (ERAD) pathway. Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome. Plays a role in the ERAD pathway via its interaction with ER-localized proteins FAF2/UBXD8 and HERPUD1 and may form a link between the polyubiquitinated ERAD substrates and the proteasome. Involved in the regulation of macroautophagy and autophagosome formation; required for maturation of autophagy-related protein LC3 from the cytosolic form LC3-I to the membrane-bound form LC3-II and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion. Negatively regulates the endocytosis of GPCR receptors: AVPR2 and ADRB2, by specifically reducing the rate at which receptor- arrestin complexes concentrate in clathrin-coated pits (CCPs); Ubiquilin family

Synonyms:  UBQLN2,  UBQLN2p,  hUBQLN2,  Q9UHD9,  HRIHFB2157 ...

Linkouts:  STRING  Pharos  UniProt  OMIM