UHRF2

Chr 9

ubiquitin like with PHD and ring finger domains 2

Also known as: NIRF, RNF107, TDRD23, URF2

NCBI Gene: 115426 ENSG00000147854 UniProt: Q96PU4

This gene encodes an E3 ubiquitin ligase that regulates cell cycle progression, DNA methylation, histone modifications, and DNA repair through ubiquitination of various substrates including cyclins and DNA damage response proteins. The gene is highly constrained against loss-of-function variants (pLI=1.0, LOEUF=0.25), indicating that mutations are likely to cause severe developmental consequences. However, no specific human disease phenotype has been definitively associated with UHRF2 mutations in the current literature.

ResearchSummary from RefSeq, UniProt

This gene encodes a nuclear protein which is involved in cell-cycle regulation. The encoded protein is a ubiquitin-ligase capable of ubiquinating PCNP (PEST-containing nuclear protein), and together they may play a role in tumorigenesis. The encoded protein contains an NIRF_N domain, a PHD finger, a set- and ring-associated (SRA) domain, and a RING finger domain and several of these domains have been shown to be essential for the regulation of cell proliferation. This protein may also have a role in intranuclear degradation of polyglutamine aggregates. Alternative splicing results in multiple transcript variants some of which are non-protein coding. [provided by RefSeq, Feb 2012]

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

0.24

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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