USP7

Chr 16AD

ubiquitin specific peptidase 7

Also known as: C16DELp13.2, DEL16P13.2, HAFOUS, HAUSP, TEF1

NCBI Gene: 7874 ENSG00000187555 UniProt: Q93009 OMIM: 602519

USP7 encodes a deubiquitinating enzyme that removes ubiquitin from target proteins including p53, PTEN, and components involved in DNA repair and chromatin regulation. Mutations cause Hao-Fountain syndrome, a neurodevelopmental disorder with autosomal dominant inheritance. This gene is highly constrained against loss-of-function variants in the general population.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hao-Fountain syndromeMIM #616863

Clinical highlights

Gene-disease validity (ClinGen)

Hao-Fountain syndrome · ADDefinitivesufficient evidence for diagnostic panels

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

273

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.06

LOEUF· LoF intol.

LOF

Mechanism· G2P

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