DISEASES

Disease-gene associations mined from literature

UBA2 disease associations

UBA2 [ENSP00000246548]

SUMO-activating enzyme subunit 2; The heterodimer acts as an E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2. ECO:0000269|PubMed:15660128, ECO:0000269|PubMed:17643372,

Synonyms:  UBA2,  UBA2p,  hUBA2,  K7EPL2,  K7ES38 ...

Linkouts:  STRING  Pharos  UniProt  OMIM