OTUD7B Gene
OTU Deubiquitinase 7B
Gene Information Card
| Symbol | OTUD7B |
|---|---|
| Full Name | OTU deubiquitinase 7B |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.2 |
| NCBI Gene ID | 56957 ncbi.nlm.nih.gov/gene/56957 |
| Ensembl ID | ENSG00000117419 |
| UniProt ID | Q6GQQ9 |
| OMIM ID | 612024 |
| HGNC ID | 26118 |
| Aliases | CEZANNE, ZA20D3, Cezanne2 |
Description
OTUD7B (OTU deubiquitinase 7B) encodes a member of the OTU (ovarian tumor) domain-containing deubiquitinating enzyme family. The protein negatively regulates NF-kappa-B signaling by deubiquitinating TRAF3 and TRAF6, thereby modulating immune responses and inflammation. It also plays a role in cell cycle regulation and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple myeloma | OTUD7B overexpression promotes NF-kB activation and tumor survival | PMID: 23034409 |
| Breast cancer | Altered expression linked to poor prognosis via NF-kB pathway | PMID: 25605247 |
| Inflammatory diseases | Dysregulation of deubiquitinase activity affects cytokine production | PMID: 23300459 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Bone marrow | 8.9 | Low |
| Lung | 6.3 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.4 | High expression |
| HeLa | 11.2 | Moderate expression |
| K562 | 9.8 | Low expression |
| MCF7 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | <0.01% | Unknown functional impact |
| c.1456G>A (p.Glu486Lys) | Missense | <0.01% | Potential loss of deubiquitinase activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the OTU domain may impair catalytic activity, reducing TRAF3 deubiquitination and enhancing NF-kB signaling.
Gain of Function (GOF)
Not well characterized; overexpression in multiple myeloma suggests a possible gain-of-function role in tumorigenesis.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type deubiquitinase activity | • protein deubiquitination |
| • negative regulation of NF-kappaB transcription factor activity | • ubiquitin-dependent protein catabolic process |
| • cytoplasm | • nucleus |
Pathways
• NF-kappa B signaling pathway (KEGG hsa04064)
• TRAF6-mediated IRF7 activation
• Deubiquitination of TRAF3
Protein Summary
OTUD7B is a 90 kDa deubiquitinating enzyme containing an OTU domain. It specifically cleaves K63-linked polyubiquitin chains from TRAF3 and TRAF6, thereby negatively regulating NF-kB and IRF signaling. The protein is widely expressed in immune tissues and is implicated in cancer and inflammatory diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OTUD7B Knockout HEK293 Cell Line | EDJ-KQ3746 | Human | 56957 | Details Get a Quote |
| OTUD7B Knockout A-549 Cell Line | EDJ-KQ25816 | Human | 56957 | Details Get a Quote |
| OTUD7B Knockout HCT 116 Cell Line | EDJ-KQ25817 | Human | 56957 | Details Get a Quote |
| OTUD7B Knockout HeLa Cell Line | EDJ-KQ25818 | Human | 56957 | Details Get a Quote |
