Browse All / Genes / USP8

USP8

ubiquitin specific peptidase 8
3 disorders 1 causative 1 no genetic record 1 somatic driver 15q21.2 gene with protein product
HGNC:12631MonarchNCBI Gene 9101ENSG00000138592UniProt P40818OMIM 603158

Aliases: HumORF8, KIAA0055, UBPY, SPG59.

Normal function · from ai-gene-review (P40818, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status IN_PROGRESS; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Cushing Disease causative somatic gain of function
mechanism: Somatic Driver Mutation in the Corticotroph
USP8-related pituitary adenoma 4 somatic driver somatic gain of function
mechanism: Increased USP8 deubiquitinase activity; Somatic activating USP8 mutation; Sustained EGFR signaling in corticotrophs
diagnosis: Corticotroph tumor USP8 sequencing
Pituitary Tumor no genetic record
mechanism: Clonal Expansion of an Adenohypophyseal Cell Lineage
subtype: Corticotroph
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.