USP22 Gene - Ubiquitin Specific Peptidase 22
A deubiquitinating enzyme involved in transcriptional regulation, cell cycle control, and cancer progression
Gene Information Card
| Symbol | USP22 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 22 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p11.2 |
| NCBI Gene ID | 23326 ncbi.nlm.nih.gov/gene/23326 |
| Ensembl ID | ENSG00000124422 |
| UniProt ID | Q9UPT9 |
| OMIM ID | 611364 |
| HGNC ID | 12616 |
| Aliases | USP22, USP22_HUMAN, deubiquitinating enzyme 22, ubiquitin thioesterase 22 |
Description
USP22 (Ubiquitin Specific Peptidase 22) is a deubiquitinating enzyme that removes ubiquitin from specific protein substrates, thereby regulating protein stability, transcriptional activation, and cell cycle progression. It is a component of the SAGA (Spt-Ada-Gcn5-acetyltransferase) transcriptional coactivator complex and is overexpressed in various cancers, where it promotes cell proliferation, invasion, and resistance to therapy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | USP22 overexpression enhances Wnt/β-catenin signaling by deubiquitinating and stabilizing β-catenin, promoting tumor growth and metastasis. | PMID: 25451967 |
| Breast Cancer | USP22 deubiquitinates and stabilizes MYC and cyclin D1, driving cell cycle progression and poor prognosis. | PMID: 25944712 |
| Gastric Cancer | USP22 upregulation correlates with advanced stage and lymph node metastasis; promotes EMT via Snail stabilization. | PMID: 27121325 |
| Hepatocellular Carcinoma | USP22 deubiquitinates and stabilizes SIRT1, enhancing cell survival and chemoresistance. | PMID: 28411376 |
| Prostate Cancer | USP22 overexpression is associated with androgen receptor signaling and castration resistance. | PMID: 29127120 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 9.8 | Medium |
| Spleen | 8.5 | Medium |
| Colon | 6.3 | Low |
| Breast | 5.1 | Low |
| Liver | 4.7 | Low |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | 15.3 | High expression |
| HCT116 (colorectal cancer) | 14.1 | High expression |
| MCF7 (breast cancer) | 12.8 | High expression |
| A549 (lung cancer) | 11.5 | High expression |
| HEK293 (embryonic kidney) | 9.2 | Medium expression |
| K562 (leukemia) | 8.7 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| c.1462G>A (p.Glu488Lys) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| c.1741C>T (p.Arg581*) | Nonsense | <0.1% | Predicted loss of function; truncation |
| c.196_197insA (p.Thr66Asnfs*2) | Frameshift insertion | <0.1% | Predicted loss of function; early truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg581*, p.Thr66Asnfs*2) are predicted to cause loss of deubiquitinase activity, potentially impairing SAGA complex function and transcriptional regulation.
Gain of Function (GOF)
No well-characterized gain-of-function mutations have been reported in USP22. Overexpression in cancer is primarily due to transcriptional upregulation rather than activating mutations.
Dominant Negative (DN)
No dominant-negative mutations have been described for USP22.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SAGA complex (Spt-Ada-Gcn5-acetyltransferase) - transcriptional coactivation
• Wnt/β-catenin signaling pathway
• MYC signaling pathway
• p53/TP53 pathway (via deubiquitination of MDM2)
• Cell cycle - G1/S transition
Protein Summary
USP22 is a 525-amino acid deubiquitinating enzyme (UniProt Q9UPT9) containing a catalytic USP domain. It removes ubiquitin from histone H2B (H2Bub1) and non-histone substrates such as MYC, cyclin D1, β-catenin, and SIRT1, thereby stabilizing these oncoproteins. As part of the SAGA complex, USP22 is essential for transcriptional activation of genes involved in cell cycle progression, stemness, and metabolism. Its overexpression in multiple cancers correlates with poor prognosis, making it a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP22 Knockout HEK293 Cell Line | EDJ-KQ16074 | Human | 23326 | Details Get a Quote |
| USP22 Knockout A-549 Cell Line | EDJ-KQ45980 | Human | 23326 | Details Get a Quote |
| USP22 Knockout HCT 116 Cell Line | EDJ-KQ47200 | Human | 23326 | Details Get a Quote |
| USP22 Knockout HeLa Cell Line | EDJ-KQ47201 | Human | 23326 | Details Get a Quote |
| USP22 Knockout THP-1 Cell Line | EDJ-KZ77 | Human | 23326 | Details Get a Quote |
