DCUN1D2 Gene - Defective in Cullin Neddylation 1 Domain Containing 2
A component of the cullin-RING ubiquitin ligase (CRL) neddylation pathway involved in protein degradation and cell cycle regulation.
Gene Information Card
| Symbol | DCUN1D2 |
|---|---|
| Full Name | Defective in Cullin Neddylation 1 Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q34 |
| NCBI Gene ID | 123879 ncbi.nlm.nih.gov/gene/123879 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q6P3W7 |
| OMIM ID | 616315 |
| HGNC ID | 28322 |
| Aliases | SCCRO3, DCNL2, DCUN1L2 |
Description
DCUN1D2 (Defective in Cullin Neddylation 1 Domain Containing 2) encodes a protein that functions as a component of the cullin-RING ubiquitin ligase (CRL) neddylation pathway. It promotes the neddylation of cullin proteins, which is essential for CRL activation and subsequent ubiquitin-mediated protein degradation. The gene is located on chromosome 13q34 and is expressed in various tissues. Alterations in DCUN1D2 have been implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Squamous cell carcinoma | Overexpression may enhance CRL activity, promoting degradation of tumor suppressors | COSMIC, literature |
| Hepatocellular carcinoma | Altered expression linked to dysregulated neddylation and cell proliferation | COSMIC, literature |
| Colorectal cancer | Somatic mutations and copy number changes observed | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Medium |
| Adrenal gland | 6.1 | Low |
| Brain | 4.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.5 | Moderate expression |
| HepG2 | 7.8 | Moderate expression |
| A549 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown functional impact |
| c.458G>A (p.Arg153Gln) | Missense | <0.01% | Unknown functional impact |
| c.544_545insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.544_545insA) are predicted to cause premature truncation and loss of neddylation activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not established for DCUN1D2.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • protein neddylation (GO:0045116) |
| • ubiquitin protein ligase binding (GO:0031625) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) |
Pathways
• Neddylation pathway (Reactome: R-HSA-8951664)
• Cullin-RING ubiquitin ligase activation (Reactome: R-HSA-8951664)
Protein Summary
The DCUN1D2 protein (UniProt Q6P3W7) is a 241-amino acid polypeptide that contains a DCUN1 domain. It localizes to the cytoplasm and cytosol, where it interacts with cullin proteins to facilitate their neddylation. This modification is critical for the assembly and activation of cullin-RING ubiquitin ligases (CRLs), which target various substrates for proteasomal degradation. DCUN1D2 is widely expressed, with highest levels in testis and thyroid.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCUN1D2 Knockout HEK293 Cell Line | EDJ-KQ13109 | Human | 55208 | Details Get a Quote |
| DCUN1D2 Knockout A-549 Cell Line | EDJ-KQ42415 | Human | 55208 | Details Get a Quote |
| DCUN1D2 Knockout HCT 116 Cell Line | EDJ-KQ42416 | Human | 55208 | Details Get a Quote |
| DCUN1D2 Knockout HeLa Cell Line | EDJ-KQ42417 | Human | 55208 | Details Get a Quote |
