DISEASES

Disease-gene associations mined from literature

Literature associating CUL2 and familial renal papillary carcinoma

CUL2 [ENSP00000444856]

Cullin 2; Core component of multiple cullin-RING-based ECS (ElonginB/C-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination of target proteins. ECS complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins. May serve as a rigid scaffold in the complex and may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1. The functional specificity of the ECS complex depends on the substrate recognition component. ECS(VHL) mediates the ubiquitination of hypoxia-inducible factor (HIF); Cullins

Synonyms:  CUL2,  CUL2p,  hCUL2,  CUL2-001,  CUL2-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM