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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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COMMD9
COMM domain containing 9
Chromosome 11 · 11p13
NCBI Gene: 29099Ensembl: ENSG00000110442.12HGNC: HGNC:25014UniProt: E9PJ95
40PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription FactorTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmprotein-containing complexprotein bindingendoplasmic reticulum membraneatopic eczemadermatitisEczematoid dermatitispsoriasis vulgaris
✦AI Summary

COMMD9 is a scaffold protein within the Commander complex essential for endosomal recycling of transmembrane cargos 1. The Commander complex comprises CCC and retriever subcomplexes that organize SNX17-dependent recycling of integral membrane proteins containing ΦxNPxY/F sorting motifs 1. COMMD9 specifically regulates epithelial sodium channel (ENaC) surface expression by modulating Na+ transport in kidney collecting ducts, functioning as an endogenous ENaC regulator 2. Additionally, COMMD9 promotes TFDP1/E2F1 transcriptional activation in non-small cell lung cancer, where it is upregulated and drives cancer cell proliferation and migration 3. COMMD9 controls Notch receptor recycling through the CCC complex; its deletion causes embryonic lethality with cardiovascular alterations mimicking Notch deficiency 4. In copper homeostasis, COMMD9 deficiency destabilizes the entire CCC complex, resulting in hepatic copper accumulation under high-copper diets by impairing ATP7B endosomal recycling 5. Mutations in COMMD9 cause Ritscher-Schinzel syndrome, a congenital malformation syndrome presenting with cerebellar, cardiac, craniofacial, and kidney dysfunction due to disrupted Commander assembly and reduced cell surface presentation of development-critical proteins 1. COMMD9 expression correlates with immune cell infiltration in sepsis pathogenesis 6, suggesting broader roles in inflammatory and immune responses.

Sources cited
1
COMMD9 mutations cause Ritscher-Schinzel syndrome via disrupted Commander complex assembly and impaired SNX17-dependent endosomal recycling
PMID: 40601774
2
COMMD9 interacts with ENaC and downregulates its cell surface expression to regulate Na+ transport in kidney epithelial cells
PMID: 23637203
3
COMMD9 is upregulated in non-small cell lung cancer and promotes TFDP1/E2F1 transcriptional activity to drive cancer cell proliferation
PMID: 27871936
4
COMMD9 regulates Notch receptor endosomal recycling through the CCC complex; Commd9 deletion causes embryonic lethality with Notch deficiency-like cardiovascular phenotypes
PMID: 26553930
5
COMMD9 deficiency destabilizes the CCC complex causing hepatic copper accumulation by impairing ATP7B recycling
PMID: 33262129
6
COMMD9 expression correlates with immune cell infiltration and serves as a potential sepsis biomarker
PMID: 37449204
Disease Associationsⓘ20
atopic eczemaOpen Targets
0.15Weak
dermatitisOpen Targets
0.12Weak
Eczematoid dermatitisOpen Targets
0.12Weak
psoriasis vulgarisOpen Targets
0.11Weak
asthmaOpen Targets
0.10Weak
psoriasisOpen Targets
0.10Weak
Abnormality of the skeletal systemOpen Targets
0.09Suggestive
allergic rhinitisOpen Targets
0.09Suggestive
respiratory system diseaseOpen Targets
0.09Suggestive
brain aneurysmOpen Targets
0.09Suggestive
autoimmune diseaseOpen Targets
0.08Suggestive
skin diseaseOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
alcohol drinkingOpen Targets
0.07Suggestive
acute tonsillitisOpen Targets
0.07Suggestive
endocrine system diseaseOpen Targets
0.07Suggestive
COVID-19Open Targets
0.07Suggestive
Abnormal thrombosisOpen Targets
0.06Suggestive
allergic diseaseOpen Targets
0.06Suggestive
childhood onset asthmaOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ANKRD50Shared pathway100%COMMD10Protein interaction99%COMMD2Protein interaction98%COMMD1Protein interaction98%CCDC22Protein interaction97%COMMD8Protein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
60%
Heart
59%
Brain
57%
Lung
55%
Ovary
34%
Gene Interaction Network
Click a node to explore
COMMD9ANKRD50COMMD10COMMD2COMMD1CCDC22COMMD8
PROTEIN STRUCTURE
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PDB4OE9 · 1.55 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.51LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.02 [0.70–1.51]
RankingsWhere COMMD9 stands among ~20K protein-coding genes
  • #10,151of 20,598
    Most Researched40
  • #15,236of 17,882
    Most Constrained (LOEUF)1.51
Genes detectedCOMMD9
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy.
PMID: 40601774
Sci Transl Med · 2025
1.00
2
COMMD9 promotes TFDP1/E2F1 transcriptional activity via interaction with TFDP1 in non-small cell lung cancer.
PMID: 27871936
Cell Signal · 2017
0.90
3
Functional interaction of COMMD3 and COMMD9 with the epithelial sodium channel.
PMID: 23637203
Am J Physiol Renal Physiol · 2013
0.80
4
Regulation of murine copper homeostasis by members of the COMMD protein family.
PMID: 33262129
Dis Model Mech · 2021
0.70
5
Identification of new ETV6 modulators through a high-throughput functional screening.
PMID: 35198911
iScience · 2022
0.60