DISEASES

Disease-gene associations mined from literature

Literature on UBR2

UBR2 [ENSP00000361990]

E3 ubiquitin-protein ligase UBR2; E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N- terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. Plays a critical role in chromatin inactivation and chromosome-wide transcriptional silencing during meiosis via ubiquitination of histone H2A. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth. Required for spermatogenesis, promotes, with Tex19.1, SPO11-dependent recombination foci to accumulate and drive robust homologous chromosome synapsis (By similarity). Polyubiquitinates LINE-1 retrotransposon encoded, LIRE1, which induces degradation, inhibiting LINE-1 retrotransposon mobilization (By similarity). ECO:0000269|PubMed:15548684, ECO:0000269|PubMed:20298436,; Belongs to the UBR1 family.

Synonyms:  UBR2,  UBR2p,  hUBR2,  Q8IWV8,  Q8IWV8p ...

Linkouts:  STRING  Pharos  UniProt  OMIM