UBAC2: Ubiquitin-Associated Domain-Containing Protein 2
A gene encoding a component of the E3 ubiquitin ligase complex involved in protein degradation and immune regulation.
Gene Information Card
| Symbol | UBAC2 |
|---|---|
| Full Name | Ubiquitin-Associated Domain-Containing Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q32.3 |
| NCBI Gene ID | 337867 ncbi.nlm.nih.gov/gene/337867 |
| Ensembl ID | ENSG00000134824 |
| UniProt ID | Q8NBM8 |
| OMIM ID | 615763 |
| HGNC ID | 29889 |
| Aliases | UBAC2, FLJ10706, MGC13170, UBA2 |
Description
UBAC2 encodes a protein containing a ubiquitin-associated (UBA) domain. It is a component of the E3 ubiquitin ligase complex that mediates ubiquitination and subsequent proteasomal degradation of target proteins. The gene is involved in cellular processes including protein quality control, immune signaling, and cell cycle regulation. UBAC2 has been implicated in various cancers and immune-related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | UBAC2 mutations may alter ubiquitination of tumor suppressors or oncogenes, affecting protein stability and signaling pathways. | COSMIC; literature |
| Immune dysregulation | UBAC2 variants may impair ubiquitin-mediated degradation of immune regulators, leading to altered cytokine production. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Low |
| Brain | 6.1 | Low |
| Liver | 5.3 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.3 | Cervical cancer cells |
| K562 | 6.5 | Leukemia cells |
| A549 | 5.9 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Alters start codon; potential loss of function |
| c.245C>T | Nonsense | <0.01% | Premature stop; loss of function |
| c.678G>A | Missense | 0.02% | p.Met226Ile; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not well characterized; some missense variants may alter substrate specificity.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
UBAC2 is a 45 kDa protein containing an N-terminal ubiquitin-associated (UBA) domain. It functions as a scaffold or adaptor within E3 ubiquitin ligase complexes, facilitating the transfer of ubiquitin to target proteins. The protein is localized in the cytoplasm and nucleus, and its expression is highest in testis and lymphoid tissues. UBAC2 plays a role in protein degradation, immune signaling, and cell cycle control.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBAC2 Knockout HEK293 Cell Line | EDJ-KQ15999 | Human | 337867 | Details Get a Quote |
| UBAC2 Knockout A-549 Cell Line | EDJ-KQ47067 | Human | 337867 | Details Get a Quote |
| UBAC2 Knockout HCT 116 Cell Line | EDJ-KQ47068 | Human | 337867 | Details Get a Quote |
| UBAC2 Knockout HeLa Cell Line | EDJ-KQ47069 | Human | 337867 | Details Get a Quote |
