UBTD2: Ubiquitin Domain-Containing Protein 2
A ubiquitin-related gene with emerging roles in cellular signaling and disease
Gene Information Card
| Symbol | UBTD2 |
|---|---|
| Full Name | Ubiquitin Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 92181 ncbi.nlm.nih.gov/gene/92181 |
| Ensembl ID | ENSG00000164111 |
| UniProt ID | Q8WUN7 |
| OMIM ID | 617614 |
| HGNC ID | 25623 |
| Aliases | UBTD2, MGC13170, dJ1181N3.1 |
Description
UBTD2 (Ubiquitin Domain Containing 2) is a protein-coding gene located on chromosome 5q35.3. It encodes a protein containing a ubiquitin-like domain, suggesting involvement in ubiquitin-related processes such as protein degradation, signaling, or trafficking. Expression data indicate broad tissue distribution with highest levels in testis and certain brain regions. Mutations and altered expression have been linked to cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered UBTD2 expression may affect ubiquitin-mediated degradation of oncoproteins or tumor suppressors | COSMIC mutation data; expression studies in tumor samples |
| Developmental disorders | Potential role in ubiquitin signaling pathways critical for embryogenesis | OMIM #617614; rare variant studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain (cerebellum) | 12.8 | Medium |
| Heart | 8.5 | Low |
| Liver | 6.1 | Low |
| Kidney | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | Moderate expression |
| HeLa | 8.2 | Moderate expression |
| K562 | 6.0 | Low expression |
| MCF7 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347C>T (p.Pro116Leu) | Missense | <0.01% | Unknown functional impact |
| c.502G>A (p.Gly168Arg) | Missense | <0.01% | Predicted possibly damaging |
| c.631_632del (p.Leu211fs) | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu211fs) likely result in truncated protein and loss of ubiquitin domain function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-like protein binding | • protein ubiquitination |
| • cytoplasm | • nucleus |
Pathways
• Ubiquitin-proteasome pathway
• Protein modification by ubiquitin
Protein Summary
The UBTD2 protein (UniProt Q8WUN7) contains a ubiquitin-like domain (UBD) at its N-terminus. It is predicted to localize to both cytoplasm and nucleus, and may function as an adaptor or modulator in ubiquitin-dependent processes. Structural studies suggest it can interact with ubiquitin chains, potentially influencing protein stability or signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBTD2 Knockout HEK293 Cell Line | EDJ-KQ10848 | Human | 92181 | Details Get a Quote |
| UBTD2 Knockout A-549 Cell Line | EDJ-KQ37224 | Human | 92181 | Details Get a Quote |
| UBTD2 Knockout HCT 116 Cell Line | EDJ-KQ38512 | Human | 92181 | Details Get a Quote |
| UBTD2 Knockout HeLa Cell Line | EDJ-KQ38513 | Human | 92181 | Details Get a Quote |
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