USP7 Chromosome 16
Ubiquitin specific peptidase 7
Upload your DNA to see your personal genotypes for variants in USP7.
What This Gene Does
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]
Gene Info
Gene Group
Ubiquitin specific peptidases
Locus Type
gene with protein product
Location
16p13.2
Ensembl
ENSG00000187555
Associated Conditions (10)
Inborn genetic diseases
Hao-Fountain syndrome
USP7-related disorder
Intellectual disability
Hao-Fountain syndrome due to USP7 mutation
Neoplasm
Malignant tumor of urinary bladder
Neurodevelopmental disorder
Gastric cancer
Hypotonia
Key Variants
RS149953957
Conflicting classifications of pathogenicity
Health Risk
RS1567227059
Conflicting classifications of pathogenicity
Health Risk
RS2141211611
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370128581
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS560277695
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1244772203
Likely pathogenic
Hao-Fountain syndrome, Hao-Fountain syndrome
Health Risk
RS1480900512
Likely pathogenic
Hao-Fountain syndrome, Hao-Fountain syndrome
Health Risk
RS1555462347
Likely pathogenic
USP7-related disorder, Hao-Fountain syndrome, USP7-related disorder
Health Risk
RS2141156206
Likely pathogenic
Health Risk
RS2141185978
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS2141186036
Likely pathogenic
Hao-Fountain syndrome, Hao-Fountain syndrome
Health Risk
RS2141190525
Likely pathogenic
Hao-Fountain syndrome, Hao-Fountain syndrome
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149953957 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1567227059 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2141211611 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370128581 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS560277695 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1244772203 | Health Risk | Likely pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS1480900512 | Health Risk | Likely pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS1555462347 | Health Risk | Likely pathogenic | USP7-related disorder, Hao-Fountain syndrome, USP7-related disorder |
| RS2141156206 | Health Risk | Likely pathogenic | — |
| RS2141185978 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2141186036 | Health Risk | Likely pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS2141190525 | Health Risk | Likely pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS2141200474 | Health Risk | Likely pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS2141202964 | Health Risk | Likely pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS2141215483 | Health Risk | Likely pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS2549220874 | Health Risk | Likely pathogenic | Hao-Fountain syndrome due to USP7 mutation, Hao-Fountain syndrome due to USP7 mutation |
| RS2549222611 | Health Risk | Likely pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS2549223409 | Health Risk | Likely pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS2549225175 | Health Risk | Likely pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS2549230941 | Health Risk | Likely pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS2549232757 | Health Risk | Likely pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS2549240624 | Health Risk | Likely pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS2549240827 | Health Risk | Likely pathogenic | — |
| RS2549241840 | Health Risk | Likely pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS2549242516 | Health Risk | Likely pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS2549242612 | Health Risk | Likely pathogenic | Hao-Fountain syndrome, USP7-related disorder, Hao-Fountain syndrome |
| RS2549244890 | Health Risk | Likely pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS2549246727 | Health Risk | Likely pathogenic | Inborn genetic diseases, Neoplasm, Malignant tumor of urinary bladder |
| RS763721668 | Health Risk | Likely pathogenic | USP7-related disorder, USP7-related disorder |
| RS1272068741 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1555465642 | Health Risk | Pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS2061653217 | Health Risk | Pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS2061808524 | Health Risk | Pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS2061841667 | Health Risk | Pathogenic | Hao-Fountain syndrome due to USP7 mutation, Hao-Fountain syndrome due to USP7 mutation |
| RS2549212884 | Health Risk | Pathogenic | Hao-Fountain syndrome due to USP7 mutation, Gastric cancer, Hao-Fountain syndrome due to USP7 mutation |
| RS2549226325 | Health Risk | Pathogenic | — |
| RS2549226398 | Health Risk | Pathogenic | — |
| RS2549229217 | Health Risk | Pathogenic | Hao-Fountain syndrome due to USP7 mutation, Hao-Fountain syndrome due to USP7 mutation |
| RS2549242502 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2549244919 | Health Risk | Pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS2549250330 | Health Risk | Pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS756550597 | Health Risk | Pathogenic | Hao-Fountain syndrome, Hao-Fountain syndrome |
| RS781247345 | Health Risk | Pathogenic | — |
| RS2141167019 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, Hao-Fountain syndrome, Hypotonia |