Disease-gene associations mined from literature

Literature associating RANBP2 and acute hemorrhagic leukoencephalitis

RANBP2 [ENSP00000283195]

Nuclear pore complex protein Nup358; E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I. Involved in transport factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a docking site for substrates. Binds single- stranded RNA (in vitro). May bind DNA. Component of the nuclear export pathway. Specific docking site for the nuclear export factor exportin-1. Sumoylates PML at 'Lys-490' which is essential for the proper assembly of PML-NB. Recruits BICD2 to the nuclear envelope and cytoplasmic stacks of nuclear pore complex known as annulate lamellae during G2 phase of cell cycle; Cyclophilin peptidylprolyl isomerases

Synonyms:  RANBP2,  RANBP2p,  hRANBP2,  F8WBP7,  P49792 ...

Linkouts:  STRING  Pharos  UniProt  OMIM