Aliases for UBR2 Gene
External Ids for UBR2 Gene
Previous HGNC Symbols for UBR2 Gene
Previous GeneCards Identifiers for UBR2 Gene
This gene encodes an E3 ubiquitin ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
GeneCards Summary for UBR2 Gene
UBR2 (Ubiquitin Protein Ligase E3 Component N-Recognin 2) is a Protein Coding gene. Diseases associated with UBR2 include Johanson-Blizzard Syndrome and Rapadilino Syndrome. Among its related pathways are Class I MHC mediated antigen processing and presentation and SMAD Signaling Network. Gene Ontology (GO) annotations related to this gene include ligase activity and leucine binding. An important paralog of this gene is UBR1.
UniProtKB/Swiss-Prot for UBR2 Gene
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).