UBE2R2

Chr 9

ubiquitin conjugating enzyme E2 R2

Also known as: CDC34B, E2-CDC34B, UBC3B

NCBI Gene: 54926 ENSG00000107341 UniProt: Q712K3 OMIM: 612506

This gene encodes an E2 ubiquitin-conjugating enzyme that transfers ubiquitin from E1 activating enzymes to target proteins via E3 ligase complexes, participating in protein degradation pathways including beta-catenin regulation. The gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.26), suggesting mutations would likely cause severe disease, though specific associated disorders have not yet been established in the literature. Clinical phenotypes and inheritance patterns remain to be characterized as this gene emerges in research studies.

OMIM ResearchSummary from RefSeq, UniProt

Protein kinase CK2 is a ubiquitous and pleiotropic Ser/Thr protein kinase involved in cell growth and transformation. This gene encodes a protein similar to the E2 ubiquitin conjugating enzyme UBC3/CDC34. Studies suggest that CK2-dependent phosphorylation of this ubiquitin-conjugating enzyme functions by regulating beta-TrCP substrate recognition and induces its interaction with beta-TrCP, enhancing beta-catenin degradation. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.26

LOEUF· LoF intol.

LOF

Mechanism· predicted