COMMD3 Gene - COMM Domain Containing 3
Key regulator of NF-κB signaling and copper homeostasis
Gene Information Card
| Symbol | COMMD3 |
|---|---|
| Full Name | COMM domain containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p15.3 |
| NCBI Gene ID | 23412 ncbi.nlm.nih.gov/gene/23412 |
| Ensembl ID | ENSG00000120063 |
| UniProt ID | Q9Y6K1 |
| OMIM ID | 607238 |
| HGNC ID | 23021 |
| Aliases | BUP, C10orf8, FLJ20030, MDS027 |
Description
COMMD3 (COMM domain containing 3) is a protein-coding gene located on chromosome 10p15.3. The encoded protein is a member of the COMMD family, characterized by a conserved COMM domain. COMMD3 functions as a regulator of the NF-κB transcription factor pathway and is involved in copper homeostasis. It interacts with the COMMD1 protein and the CCC complex (COMMD/CCDC22/CCDC93) to modulate endosomal trafficking and signaling. COMMD3 has been implicated in various cellular processes including inflammation, immune response, and cell survival.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered COMMD3 expression may affect NF-κB signaling, promoting tumor growth | COSMIC, literature |
| Colorectal cancer | COMMD3 mutations and expression changes linked to tumor progression | COSMIC, literature |
| Inflammatory diseases | COMMD3 regulates NF-κB activity, influencing cytokine production | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Lung | 8.7 | Medium |
| Brain | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 11.8 | Medium expression |
| HepG2 | 14.1 | High expression |
| A549 | 9.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | Rare | Unknown functional impact |
| c.454G>A (p.Glu152Lys) | Missense | Rare | Unknown functional impact |
| c.601_602insA (p.Thr201Asnfs*2) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.601_602insA) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations reported in COMMD3.
Dominant Negative (DN)
No dominant-negative mutations reported in COMMD3.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123) |
| • cellular copper ion homeostasis (GO:0006878) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) |
Pathways
• NF-kappa B signaling pathway
• Copper homeostasis pathway
• Endosomal trafficking (CCC complex)
Protein Summary
The COMMD3 protein (UniProt Q9Y6K1) is 199 amino acids long and contains a conserved COMM domain at the C-terminus. It localizes to the cytoplasm and cytosol, where it interacts with COMMD1 and other components of the CCC complex. COMMD3 regulates NF-κB signaling by modulating the ubiquitination and degradation of NF-κB subunits. It also participates in copper homeostasis by influencing the trafficking of copper transporters. The protein is widely expressed, with highest levels in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COMMD3 Knockout HEK293 Cell Line | EDJ-KQ51102 | Human | 23412 | Details Get a Quote |
| COMMD3-BMI1 Knockout HEK293 Cell Line | EDJ-KQ52502 | Human | 100532731 | Details Get a Quote |
| COMMD3 Knockout HeLa Cell Line | EDJ-KQ55728 | Human | 23412 | Details Get a Quote |
| COMMD3-BMI1 Knockout HeLa Cell Line | EDJ-KQ60965 | Human | 100532731 | Details Get a Quote |
| COMMD3 Knockout A-549 Cell Line | EDJ-KQ64227 | Human | 23412 | Details Get a Quote |
| COMMD3-BMI1 Knockout A-549 Cell Line | EDJ-KQ69440 | Human | 100532731 | Details Get a Quote |
| COMMD3 Knockout HCT 116 Cell Line | EDJ-KQ72672 | Human | 23412 | Details Get a Quote |
| COMMD3-BMI1 Knockout HCT 116 Cell Line | EDJ-KQ77791 | Human | 100532731 | Details Get a Quote |
