Disease-gene associations mined from literature

Literature associating UBR2 and Johanson-Blizzard syndrome

UBR2 [ENSP00000361990]

Ubiquitin protein ligase E3 component n-recognin 2; 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 retranstoposon mobilization (By similarity).

Synonyms:  UBR2,  UBR2p,  hUBR2,  B3KXG6,  Q8IWV8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM