UBR5

Chr 8

ubiquitin protein ligase E3 component n-recognin 5

Also known as: DD5, EDD, EDD1, HYD, NEDSBH

NCBI Gene: 51366 ENSG00000104517 UniProt: O95071

UBR5 encodes an E3 ubiquitin-protein ligase that targets specific proteins for degradation through the ubiquitin-proteasome system, playing critical roles in protein quality control, DNA damage response, and transcriptional regulation. Mutations cause autosomal dominant neurodevelopmental disorder with speech delay and behavioral abnormalities. This gene is highly constrained against loss-of-function variants (pLI=1, LOEUF=0.073), indicating that functional copies are essential for normal development.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with speech delay and behavioral abnormalities

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.07

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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