USP7 Chromosome 16

Ubiquitin specific peptidase 7

44 variants 44 Health Risk

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

Health Risk

Health Risk

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