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9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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COMMD6
COMM domain containing 6
Chromosome 13 · 13q22.2
NCBI Gene: 170622Ensembl: ENSG00000188243.15HGNC: HGNC:24015UniProt: Q7Z4G1
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of transcription by RNA polymerase IIprotein bindingNF-kappaB bindingprotein-containing complexneurodegenerative diseaseAbnormality of the skeletal systemneoplasmliver disease
✦AI Summary

COMMD6 is a scaffold protein essential for endosomal recycling of transmembrane cargo through its role in the commander complex, which comprises the CCC subcomplex (CCDC22, CCDC93, C16orf62) and the retriever subcomplex 12. The protein functions primarily through its COMM domain, a conserved motif critical for its inhibitory effects on NF-kappaB signaling 3. COMMD6 directly interacts with COMMD1 and inhibits TNF-induced NF-kappaB activation, though through mechanisms distinct from COMMD1, as it does not bind IkappaBalpha 3. The CCC complex regulates recycling of key receptors including LDLR and ATP7B; hepatic COMMD6 deficiency destabilizes the entire CCC complex, impairing LDLR trafficking and elevating plasma LDL cholesterol levels while exacerbating atherosclerosis 45. COMMD6 deficiency also causes hepatic copper accumulation under high-copper diets 5. Beyond lipid metabolism, COMMD6 has been implicated in diabetic retinopathy susceptibility in Chinese populations 6 and identified as a hub gene in acute mountain sickness pathways 7. These findings establish COMMD6 as a multifunctional regulator of both metabolic homeostasis and inflammatory signaling with potential clinical relevance to cardiovascular and metabolic disease.

Sources cited
1
COMMD6 is a scaffold protein in the commander complex composed of CCC and retriever subcomplexes
PMID: 37172566
2
COMMD6 role in commander complex for endosomal recycling of transmembrane cargo
PMID: 38459129
3
COMMD6 COMM domain is critical for inhibition of TNF-induced NF-kappaB activation and interacts with COMMD1
PMID: 16573520
4
Hepatic COMMD6 deficiency destabilizes CCC complex, impairs LDLR recycling, elevates plasma LDL cholesterol and exacerbates atherosclerosis
PMID: 29545368
5
COMMD6 deficiency causes destabilization of CCC complex and hepatic copper accumulation under high-copper diets
PMID: 33262129
6
COMMD6 genomic region associated with diabetic retinopathy susceptibility in Chinese population
PMID: 23562823
7
COMMD6 identified as hub gene in acute mountain sickness pathway networks
PMID: 32299499
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.47Moderate
Abnormality of the skeletal systemOpen Targets
0.43Moderate
neoplasmOpen Targets
0.08Suggestive
liver diseaseOpen Targets
0.07Suggestive
Varicose veinsOpen Targets
0.05Suggestive
gestational diabetesOpen Targets
0.04Suggestive
systemic lupus erythematosusOpen Targets
0.04Suggestive
hearing lossOpen Targets
0.04Suggestive
placenta praeviaOpen Targets
0.04Suggestive
open-angle glaucomaOpen Targets
0.03Suggestive
mathematical abilityOpen Targets
0.03Suggestive
smoking initiationOpen Targets
0.03Suggestive
ankylosing spondylitisOpen Targets
0.03Suggestive
Phenotypic abnormalityOpen Targets
0.03Suggestive
macular degenerationOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
gliomaOpen Targets
0.03Suggestive
type 1 diabetes mellitusOpen Targets
0.02Suggestive
glomerulonephritisOpen Targets
0.02Suggestive
ovarian neoplasmOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ANKRD50Shared pathway100%TFDP1Protein interaction100%CUL2Protein interaction100%RELAProtein interaction97%COMMD5Protein interaction97%COMMD2Protein interaction97%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
69%
Brain
51%
Heart
47%
Liver
42%
Lung
36%
Gene Interaction Network
Click a node to explore
COMMD6ANKRD50TFDP1CUL2RELACOMMD5COMMD2
PROTEIN STRUCTURE
Preparing viewer…
PDB8P0W · 2.90 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.54LoF Tolerant
pLIⓘ
0.11Tolerant
Observed/Expected LoF0.62 [0.28–1.54]
RankingsWhere COMMD6 stands among ~20K protein-coding genes
  • #10,946of 20,598
    Most Researched35
  • #15,390of 17,882
    Most Constrained (LOEUF)1.54
Genes detectedCOMMD6
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Characterization of COMMD protein-protein interactions in NF-kappaB signalling.
PMID: 16573520
Biochem J · 2006
1.00
2
Regulation of murine copper homeostasis by members of the COMMD protein family.
PMID: 33262129
Dis Model Mech · 2021
0.89
3
COMMD9 promotes TFDP1/E2F1 transcriptional activity via interaction with TFDP1 in non-small cell lung cancer.
PMID: 27871936
Cell Signal · 2017
0.78
4
Expression map of the human exome in CD34+ cells and blood cells: increased alternative splicing in cell motility and immune response genes.
PMID: 20126548
PLoS One · 2010
0.67
5
Genome-wide association study in a Chinese population with diabetic retinopathy.
PMID: 23562823
Hum Mol Genet · 2013
0.56