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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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COMMD4
COMM domain containing 4
Chromosome 15 · 15q24.2
NCBI Gene: 54939Ensembl: ENSG00000140365.16HGNC: HGNC:26027UniProt: A0A0B4J287
43PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytosolprotein-containing complexcytoplasmneurodegenerative diseasecoffee consumptionAbruptio Placentaenon-small cell lung carcinoma
✦AI Summary

COMMD4 is a scaffold protein in the Commander endosomal recycling complex, essential for tissue homeostasis and genomic stability. As a core component of the CCC subcomplex, COMMD4 coordinates SNX17-dependent recycling of hundreds of integral membrane proteins containing ΦxNPxY/F sorting motifs from endosomes to the cell surface 1. Beyond its recycling function, COMMD4 regulates chr15 remodeling at DNA double-strand breaks by protecting histone H2B from RNF20/40-mediated monoubiquitination, enabling timely repair through both non-homologous-end-joining and homologous recombination pathways 2. COMMD4 also activates PI3K-AKT signaling by binding PI3K-p85 to release the catalytic p110 subunit 3. Clinically, COMMD4 mutations cause Ritscher-Schinzel syndrome, a recyclinopathy characterized by cerebellar, cardiac, craniofacial, and multi-organ developmental abnormalities 14. Conversely, elevated COMMD4 expression drives cancer progression in non-small cell lung cancer, glioma, and melanoma, promoting cell proliferation, migration, invasion, and drug resistance 563. In amyotrophic lateral sclerosis, COMMD4 upregulation induces neuronal ferroptosis by inhibiting the hephaestin-ferroportin iron efflux pathway, disrupting Cu-Fe homeostasis 7. COMMD4 thus represents a bifunctional protein: loss-of-function causes developmental disease through impaired endosomal recycling, while gain-of-function drives cancer and neurodegeneration.

Sources cited
1
COMMD4 is a scaffold protein in the Commander complex essential for SNX17-dependent endosomal recycling; mutations cause Ritscher-Schinzel syndrome as a recyclinopathy
PMID: 40601774
2
COMMD4 protects histone H2B from RNF20/40 monoubiquitination at DNA double-strand breaks, regulating chromatin remodeling and enabling both NHEJ and HR repair
PMID: 33875784
3
COMMD4 activates PI3K-AKT signaling by binding PI3K-p85 to release p110, driving melanoma proliferation, migration, and EMT
PMID: 41283898
4
CCDC22 mutations impairing COMMD4 binding cause attenuated Ritscher-Schinzel syndrome through disrupted CCC complex assembly
PMID: 40448120
5
COMMD4 is upregulated in NSCLC and elevated expression associates with poor prognosis; COMMD4 depletion decreases proliferation and enhances sensitivity to DNA-damaging agents
PMID: 32439936
6
COMMD4 expression is grade-dependent in glioma and correlates with poor prognosis, immune cell infiltration, and potential drug resistance mechanisms
PMID: 36249824
7
COMMD4-H2B interaction is a therapeutic target in NSCLC; disrupting this interaction increases radiation sensitivity and induces mitotic catastrophe
PMID: 37914802
8
COMMD4 is upregulated in ALS and induces neuronal ferroptosis by inhibiting hephaestin and ferroportin, disrupting Cu-Fe homeostasis
PMID: 40389143
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.41Moderate
coffee consumptionOpen Targets
0.36Weak
Abruptio PlacentaeOpen Targets
0.26Weak
non-small cell lung carcinomaOpen Targets
0.09Suggestive
gliomaOpen Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.06Suggestive
AIDS dementiaOpen Targets
0.05Suggestive
neuroendocrine neoplasmOpen Targets
0.05Suggestive
squamous cell carcinomaOpen Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
frozen shoulderOpen Targets
0.03Suggestive
amyotrophic lateral sclerosisOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
glioblastomaOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
cutaneous melanomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ANKRD50Shared pathway100%COMMD1Protein interaction99%TFDP1Protein interaction98%COMMD6Protein interaction97%COMMD5Protein interaction94%COMMD2Protein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
93%
Ovary
74%
Lung
66%
Heart
53%
Brain
40%
Gene Interaction Network
Click a node to explore
COMMD4ANKRD50COMMD1TFDP1COMMD6COMMD5COMMD2
PROTEIN STRUCTURE
Preparing viewer…
PDB8P0W · 2.90 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.98LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.46–0.98]
RankingsWhere COMMD4 stands among ~20K protein-coding genes
  • #9,710of 20,598
    Most Researched43
  • #9,373of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedCOMMD4
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
Targeting the COMMD4-H2B protein complex in lung cancer.
PMID: 37914802
Br J Cancer · 2023
0.90
3
COMMD4 functions with the histone H2A-H2B dimer for the timely repair of DNA double-strand breaks.
PMID: 33875784
Commun Biol · 2021
0.80
4
COMMD4 is a novel prognostic biomarker and relates to potential drug resistance mechanism in glioma.
PMID: 36249824
Front Pharmacol · 2022
0.70
5
CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome.
PMID: 40448120
BMC Med Genomics · 2025
0.60