USP8 ubiquitin specific peptidase 8
Gene ID: 9101, updated on 12-Nov-2024Gene type: protein coding
Also known as: UBPY; PITA4; SPG59; HumORF8
- See all available tests in GTR for this gene
- Go to complete Gene record for USP8
- Go to Variation Viewer for USP8 variants
Summary
This gene encodes a protein that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo sorting and membrane trafficking at the early endosome stage. This protein is required for the cell to enter the S phase of the cell cycle and also functions as a positive regulator in the Hedgehog signaling pathway in development. Pseudogenes of this gene are present on chromosomes 2 and 6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Pituitary dependent hypercortisolism | See labs |
Genomic context
- Location:
- 15q21.2
- Sequence:
- Chromosome: 15; NC_000015.10 (50424405..50514421)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for USP8 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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