USP32

protein-coding

ubiquitin specific peptidase 32, the group of Ubiquitin specific peptidases|EF-hand domain containing

Gene summary

Enables cysteine-type deubiquitinase activity. Involved in positive regulation of TORC1 signaling. Is active in Golgi apparatus. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_032582.4

Inheritance

—

ClinVar variants

U:176B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.14

Max pathogenic AF

—

Genomic locus

chr17:60,177,327-60,422,470

External References & Databases

Ensembl (ENSG00000170832)

Transcript & Mutation Effects

hg38 • Region Span ~245.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to USP32 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 167

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032582.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar			3
missense			170 clinvar	2 clinvar		172
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	176	2	0	178

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 33 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032582.4	RefSeq	NP_115971.2	34	MANE Select
ENST00000300896.9	Ensembl	ENSP00000300896.3	34	MANE Select
ENST00000393003.7	Ensembl	ENSP00000376727.2	12	Standard
ENST00000393003.8	Ensembl	ENSP00000376727.2	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

ubiquitin-dependent protein catabolic process
protein deubiquitination

Molecular Function

thiol-dependent ubiquitin-specific protease activity
calcium ion binding
protein binding

Cellular Component

Golgi apparatus
cytosol
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000300896
Coding exons: 34
Length: 243377
Individuals with no LoFs: 125726
Homozygous LoFs: 0
Heterozygous LoFs: 22
Defined: 125748
p: 0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	3.28	576	844	0.682	0.0000436	10553
Missense (PolyPhen)		246	463.66	0.53056		6033
Synonymous	2.03	255	300	0.851	0.0000146	2999
Loss of Function	7.65	13	92.3	0.141	0.00000553	1041

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.000098	0.000087	rare
Ashkenazi Jewish	0.00030	0.00030	rare
East Asian	0.000062	0.000054	rare
Finnish	0.000093	0.000092	rare
European (Non-Finnish)	0.000056	0.000044	rare
South Asian	0.00014	0.00013	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.105

Intolerance Scores

LoFtool: 0.301
RVIS EVS: -2.08
RVIS percentile EVS: 1.58

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): K
Indispensability pred.: E
Indispensability score: 0.966

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium