COMMD10 Gene
COMM Domain Containing 10: A Regulator of NF-κB Signaling and Copper Homeostasis
Gene Information Card
| Symbol | COMMD10 |
|---|---|
| Full Name | COMM domain containing 10 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q23.1 |
| NCBI Gene ID | 51397 ncbi.nlm.nih.gov/gene/51397 |
| Ensembl ID | ENSG00000145777 |
| UniProt ID | Q9Y6G5 |
| OMIM ID | 614719 |
| HGNC ID | 25997 |
| Aliases | PTD002, C5orf7, FLJ20254 |
Description
COMMD10 is a member of the COMMD (copper metabolism gene MURR1 domain-containing) protein family. It functions as a negative regulator of NF-κB signaling and is involved in copper homeostasis, protein trafficking, and sodium transport. The gene is located on chromosome 5q23.1 and encodes a 202-amino acid protein.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | COMMD10 downregulation may promote NF-κB activation and tumor progression | PMID: 25605249 |
| Colorectal cancer | Reduced COMMD10 expression correlates with poor prognosis and increased NF-κB activity | PMID: 28411376 |
| Copper metabolism disorders | COMMD10 interacts with COMMD1 to modulate copper excretion | PMID: 19036730 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Lung | 8.7 | Low |
| Brain | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.8 | Hepatocellular carcinoma cell line |
| HEK293 | 11.3 | Embryonic kidney cells |
| A549 | 9.1 | Lung adenocarcinoma cells |
| MCF7 | 7.4 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109Trp) | Missense | 0.001% (gnomAD) | Unknown functional effect |
| c.487G>A (p.Gly163Ser) | Missense | 0.002% (gnomAD) | Unknown functional effect |
| c.601C>T (p.Arg201Cys) | Missense | 0.0005% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in literature.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NF-kappa B signaling pathway (Reactome: R-HSA-975909)
• Copper homeostasis (Reactome: R-HSA-936837)
Protein Summary
COMMD10 is a 202-amino acid protein (22.8 kDa) containing a COMM domain at the C-terminus. It localizes to the cytoplasm and nucleus, and interacts with COMMD1 and other COMMD family members to regulate NF-κB transcriptional activity. It also participates in copper ion homeostasis by modulating ATP7B trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COMMD10 Knockout HEK293 Cell Line | EDJ-KQ11080 | Human | 51397 | Details Get a Quote |
| COMMD10 Knockout A-549 Cell Line | EDJ-KQ39013 | Human | 51397 | Details Get a Quote |
| COMMD10 Knockout HCT 116 Cell Line | EDJ-KQ39014 | Human | 51397 | Details Get a Quote |
| COMMD10 Knockout HeLa Cell Line | EDJ-KQ39015 | Human | 51397 | Details Get a Quote |
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