OTUB2: Ovarian Tumor Domain Deubiquitinase with Broad Biomedical Relevance
A comprehensive overview of OTUB2 gene, protein, expression, mutations, and disease associations
Gene Information Card
| Symbol | OTUB2 |
|---|---|
| Full Name | OTU deubiquitinase, ubiquitin aldehyde binding 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.12 |
| NCBI Gene ID | 78990 ncbi.nlm.nih.gov/gene/78990 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q96DC9 |
| OMIM ID | 612149 |
| HGNC ID | 26162 |
| Aliases | OTU2, C14orf137, FLJ22170 |
Description
OTUB2 (OTU deubiquitinase, ubiquitin aldehyde binding 2) is a protein-coding gene located on chromosome 14q32.12. It encodes a member of the ovarian tumor (OTU) domain-containing deubiquitinase family. The protein specifically cleaves ubiquitin chains, with a preference for K48- and K63-linked polyubiquitin, and is involved in the regulation of various cellular processes including DNA repair, immune signaling, and protein stability. OTUB2 is expressed in multiple tissues and has been implicated in cancer and inflammatory diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | OTUB2 overexpression promotes tumor growth and metastasis via deubiquitination of key oncogenic substrates | PMID: 31073040 |
| Lung adenocarcinoma | OTUB2 stabilizes c-Myc by removing ubiquitin chains, enhancing cell proliferation | PMID: 31570799 |
| Colorectal cancer | OTUB2 deubiquitinates β-catenin, activating Wnt signaling and driving tumorigenesis | PMID: 32015526 |
| Inflammatory bowel disease | OTUB2 negatively regulates NF-κB signaling by deubiquitinating TRAF6 | PMID: 27477906 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Lung | 8.7 | Medium |
| Breast | 6.3 | Medium |
| Colon | 5.1 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | Embryonic kidney cells; high expression |
| A549 | 9.1 | Lung carcinoma; moderate expression |
| MCF7 | 7.6 | Breast cancer; moderate expression |
| HCT116 | 6.2 | Colorectal carcinoma; low expression |
| HepG2 | 4.5 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.511C>T (p.Arg171Trp) | Missense | 0.02% (gnomAD) | Unknown functional impact; located in OTU domain |
| c.763G>A (p.Gly255Arg) | Missense | 0.01% (gnomAD) | Potential loss of deubiquitinase activity |
| c.1000_1001insA (p.Thr334Asnfs*12) | Frameshift | 0.001% (COSMIC) | Truncation; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Thr334Asnfs*12) are predicted to cause loss of deubiquitinase activity due to truncation of the OTU domain.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in literature or curated databases.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for OTUB2.
View complete mutation data：
Gene Ontology (GO)
| • thiol-dependent deubiquitinase (GO:0004843) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • nucleus (GO:0005634) | • cytosol (GO:0005829) |
| • hydrolase activity (GO:0016787) | • ubiquitin-specific protease activity (GO:1990381) |
Pathways
• KEGG hsa04120: Ubiquitin mediated proteolysis
• Reactome R-HSA-5689880: Deubiquitination
• Reactome R-HSA-450282: TRAF6 mediated NF-κB activation
Protein Summary
OTUB2 is a 234-amino acid deubiquitinase belonging to the OTU family. It contains a conserved OTU domain that catalyzes the cleavage of ubiquitin chains, preferentially targeting K48 and K63 linkages. The protein localizes to the nucleus and cytosol and regulates key signaling pathways including NF-κB, Wnt/β-catenin, and c-Myc stability. OTUB2 is implicated in oncogenesis and inflammation, with overexpression observed in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OTUB2 Knockout HEK293 Cell Line | EDJ-KQ14644 | Human | 78990 | Details Get a Quote |
| OTUB2 Knockout A-549 Cell Line | EDJ-KQ44925 | Human | 78990 | Details Get a Quote |
| OTUB2 Knockout HCT 116 Cell Line | EDJ-KQ44926 | Human | 78990 | Details Get a Quote |
| OTUB2 Knockout HeLa Cell Line | EDJ-KQ57121 | Human | 78990 | Details Get a Quote |
