{"entity":{"id":"usp7","kind":"target","name":"USP7","aka":["ubiquitin specific peptidase 7","Ubiquitin C-terminal hydrolase 7","HAUSP"],"tldr":"USP7 (Ubiquitin C-terminal hydrolase 7) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Multiple myeloma and Burkitt lymphoma.","summary":"Hydrolase that deubiquitinates target proteins such as ARMC5, FOXO4, DEPTOR, KAT5, p53/TP53, MDM2, ERCC6, DNMT1, UHRF1, PTEN, KMT2E/MLL5 and DAXX. Together with DAXX, prevents MDM2 self-ubiquitination and enhances the E3 ligase activity of MDM2 towards p53/TP53, thereby promoting p53/TP53 ubiquitination and proteasomal degradation. Deubiquitinates p53/TP53, preventing degradation of p53/TP53, and enhances p53/TP53-dependent transcription regulation, cell growth repression and apoptosis.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Burkitt Lymphoma, Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12630","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12630"},{"label":"UniProt Q93009","url":"https://www.uniprot.org/uniprotkb/Q93009/entry"},{"label":"NCBI Gene 7874","url":"https://www.ncbi.nlm.nih.gov/gene/7874"},{"label":"Ensembl ENSG00000187555","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000187555"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["multiple-myeloma","burkitt-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["ubiquitin-proteasome-system"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"USP7","role":["tumour-suppressor","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12630","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12630","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q93009","url":"https://www.uniprot.org/uniprotkb/Q93009/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene USP7","url":"https://civicdb.org/features/6340","note":"1 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen USP7","url":"https://www.intogen.org/search?gene=USP7","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA USP7: RNA low tissue specificity; no normal tissue stained high; highest cancer staining testis cancer (4 of 10 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q93009","url":"https://www.uniprot.org/uniprotkb/Q93009/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene USP7","url":"https://civicdb.org/features/6340","note":"1 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen USP7","url":"https://www.intogen.org/search?gene=USP7","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas USP7 tissue","url":"https://www.proteinatlas.org/ENSG00000187555-USP7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000187555 associations","url":"https://platform.opentargets.org/target/ENSG00000187555/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12630","ensembl":"ENSG00000187555","uniprot":"Q93009","entrez":"7874","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Everett R.D. et al, EMBO J, 1997, \"A novel ubiquitin-specific protease is dynamically associated with the PML nuclear domain and binds to a herpesvirus regulatory protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9034339/","biology":"Hydrolase that deubiquitinates target proteins such as ARMC5, FOXO4, DEPTOR, KAT5, p53/TP53, MDM2, ERCC6, DNMT1, UHRF1, PTEN, KMT2E/MLL5 and DAXX. Together with DAXX, prevents MDM2 self-ubiquitination and enhances the E3 ligase activity of MDM2 towards p53/TP53, thereby promoting p53/TP53 ubiquitination and proteasomal degradation. Deubiquitinates p53/TP53, preventing degradation of p53/TP53, and enhances p53/TP53-dependent transcription regulation, cell growth repression and apoptosis. Deubiquitinates p53/TP53 and MDM2 and strongly stabilises p53/TP53 even in the presence of excess MDM2, and also induces p53/TP53-dependent cell growth repression and apoptosis. Deubiquitination of FOXO4 in presence of hydrogen peroxide is not dependent on p53/TP53 and inhibits FOXO4-induced transcriptional activity. In association with DAXX, is involved in the deubiquitination and translocation of PTEN from the nucleus to the cytoplasm, both processes that are counteracted by PML. Location: Nucleus; Cytoplasm; Nucleus, PML body; Chromosome (UniProt). Locus 16p13.2 (HGNC).","whereFound":["Multiple myeloma: IntOGen driver in 1 cohort (PCM)","Burkitt lymphoma: CIViC evidence names this disease; IntOGen driver in 1 cohort (BL)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/usp7/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"}],"cancer":[{"id":"burkitt-lymphoma","kind":"cancer","name":"Burkitt lymphoma","route":"/cancers/burkitt-lymphoma/"},{"id":"multiple-myeloma","kind":"cancer","name":"Multiple myeloma","route":"/cancers/multiple-myeloma/"}],"pathway":[{"id":"ubiquitin-proteasome-system","kind":"pathway","name":"Ubiquitin-proteasome system & protein homeostasis","route":"/pathways/ubiquitin-proteasome-system/"}]}}