USP17L2
Ubiquitin Specific Peptidase 17 Like Family Member 2
Gene Information Card
| Symbol | USP17L2 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 17 Like Family Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.1 |
| NCBI Gene ID | 377630 ncbi.nlm.nih.gov/gene/377630 |
| Ensembl ID | ENSG00000214548 |
| UniProt ID | Q6R6M4 |
| OMIM ID | Not available |
| HGNC ID | 37118 |
| Aliases | USP17L, USP17H |
Description
USP17L2 is a member of the ubiquitin-specific protease (USP) family. It encodes a deubiquitinating enzyme that removes ubiquitin from target proteins, thereby regulating protein stability and cellular signaling. The gene is located on chromosome 4p16.1 and is expressed in various tissues. USP17L2 has been implicated in cell proliferation and cancer, with evidence from COSMIC and ClinVar databases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Overexpression may promote cell proliferation via deubiquitination of oncogenic substrates | COSMIC: somatic mutations and copy number alterations in multiple cancer types |
| Lung cancer | Altered expression linked to tumor progression | ClinVar: reported in lung adenocarcinoma samples |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.1 | Low |
| Colon | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| A549 | 9.8 | Moderate expression |
| MCF7 | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% (COSMIC) | Unknown functional impact |
| c.100C>T | Nonsense | 0.005% (COSMIC) | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein and loss of deubiquitinase activity.
Gain of Function (GOF)
Not well characterized; some missense variants may alter substrate specificity.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type endopeptidase activity | • ubiquitin-specific protease activity |
| • proteolysis | • ubiquitin-dependent protein catabolic process |
Pathways
• Ubiquitin mediated proteolysis
• Deubiquitination
Protein Summary
USP17L2 encodes a 530-amino acid protein with a conserved USP domain. It functions as a deubiquitinating enzyme, cleaving ubiquitin from target proteins to regulate their stability and activity. The protein is localized in the cytoplasm and nucleus. Structural analysis indicates a catalytic triad typical of cysteine proteases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP17L2 Knockout HEK293 Cell Line | EDJ-KQ11900 | Human | 377630 | Details Get a Quote |
| USP17L20 Knockout HEK293 Cell Line | EDJ-KQ16062 | Human | 100287441 | Details Get a Quote |
| USP17L21 Knockout HEK293 Cell Line | EDJ-KQ16063 | Human | 100287478 | Details Get a Quote |
| USP17L22 Knockout HEK293 Cell Line | EDJ-KQ16064 | Human | 100287513 | Details Get a Quote |
| USP17L23 Knockout HEK293 Cell Line | EDJ-KQ16065 | Human | 101241878 | Details Get a Quote |
| USP17L24 Knockout HEK293 Cell Line | EDJ-KQ16067 | Human | 728369 | Details Get a Quote |
| USP17L25 Knockout HEK293 Cell Line | EDJ-KQ16068 | Human | 728373 | Details Get a Quote |
| USP17L26 Knockout HEK293 Cell Line | EDJ-KQ16069 | Human | 728379 | Details Get a Quote |
| USP17L27 Knockout HEK293 Cell Line | EDJ-KQ16070 | Human | 728393 | Details Get a Quote |
| USP17L28 Knockout HEK293 Cell Line | EDJ-KQ16071 | Human | 728400 | Details Get a Quote |
| USP17L29 Knockout HEK293 Cell Line | EDJ-KQ16072 | Human | 728405 | Details Get a Quote |
| USP17L23 Knockout HCT 116 Cell Line | EDJ-KQ45963 | Human | 101241878 | Details Get a Quote |
| USP17L26 Knockout A-549 Cell Line | EDJ-KQ45970 | Human | 728379 | Details Get a Quote |
| USP17L28 Knockout HCT 116 Cell Line | EDJ-KQ45976 | Human | 728400 | Details Get a Quote |
| USP17L23 Knockout A-549 Cell Line | EDJ-KQ47176 | Human | 101241878 | Details Get a Quote |
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