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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DCAF4
DDB1 and CUL4 associated factor 4
Chromosome 14 · 14q24.2
NCBI Gene: 26094Ensembl: ENSG00000119599.18HGNC: HGNC:20229UniProt: A0ABJ7H8Q6
33PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingCul4-RING E3 ubiquitin ligase complexcell population proliferationnucleoplasmsmoking initiationatrial fibrillationgoutneurodegenerative disease
✦AI Summary

DCAF4 (DDB1 and CUL4 associated factor 4) functions as a substrate receptor for CUL4-DDB1 E3 ubiquitin ligase complexes, playing critical roles in protein degradation and cellular regulation 1. The protein forms CRL4DCAF4 E3 ligase complexes with CUL4A/4B and DDB1, which specifically direct the ubiquitination and degradation of tumor suppressor ST7 in colorectal cancer 12. DCAF4 also mediates ubiquitination of optineurin (OPTN) and facilitates autophagic degradation of misfolded SOD1 proteins, suggesting a role in protein quality control relevant to amyotrophic lateral sclerosis 3. Expression of DCAF4 is regulated by c-Myc through binding to conserved promoter sequences and is overexpressed in various cancers including lung adenocarcinoma and colorectal cancer 14. Genetic variants in DCAF4 are associated with multiple phenotypes: rs2535913 affects leucocyte telomere length through regulation of DCAF4 expression 5, while rs12587742 increases lung cancer risk by upregulating DCAF4 mRNA expression and decreasing methylation 6. DCAF4 is also implicated in irinotecan resistance in colorectal cancer and keloid formation in African Americans 78.

Sources cited
1
DCAF4 functions as substrate receptor in CRL4 E3 ligase complexes and specifically degrades tumor suppressor ST7
PMID: 30945288
2
DCAF4 forms CRL4DCAF4 complexes with CUL4A/4B and DDB1 for ST7 ubiquitination
PMID: 32140073
3
DCAF4 mediates ubiquitination of optineurin and facilitates autophagic degradation of misfolded SOD1
PMID: 32014991
4
DCAF4 is overexpressed in lung adenocarcinomas
PMID: 28336923
5
DCAF4 variants are associated with leucocyte telomere length regulation
PMID: 25624462
6
DCAF4 variants increase lung cancer risk through expression regulation
PMID: 28383684
7
DCAF4 is involved in irinotecan resistance in colorectal cancer
PMID: 35885025
8
DCAF4 expression is associated with keloid formation
PMID: 29484647
Disease Associationsⓘ20
smoking initiationOpen Targets
0.24Weak
atrial fibrillationOpen Targets
0.18Weak
goutOpen Targets
0.17Weak
neurodegenerative diseaseOpen Targets
0.16Weak
breast diseaseOpen Targets
0.12Weak
renal carcinomaOpen Targets
0.10Suggestive
kidney cancerOpen Targets
0.08Suggestive
major depressive disorderOpen Targets
0.08Suggestive
renal cell carcinomaOpen Targets
0.07Suggestive
retinopathyOpen Targets
0.07Suggestive
Malignant Urinary System NeoplasmOpen Targets
0.07Suggestive
clear cell renal carcinomaOpen Targets
0.06Suggestive
poisoningOpen Targets
0.06Suggestive
esophageal ulcerOpen Targets
0.06Suggestive
Epiretinal membraneOpen Targets
0.05Suggestive
HepatitisOpen Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
psoriatic arthritisOpen Targets
0.03Suggestive
femoral neck fractureOpen Targets
0.03Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ANKRD45Shared pathway100%DET1Protein interaction100%CRBNProtein interaction100%DTLProtein interaction100%ERCC8Protein interaction99%COPS4Protein interaction99%
Tissue Expression6 tissues
Ovary
100%
Liver
67%
Bone Marrow
59%
Lung
55%
Heart
48%
Brain
40%
Gene Interaction Network
Click a node to explore
DCAF4ANKRD45DET1CRBNDTLERCC8COPS4
PROTEIN STRUCTURE
Preparing viewer…
PDB3I8C · 2.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.79LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.47–0.79]
RankingsWhere DCAF4 stands among ~20K protein-coding genes
  • #11,319of 20,598
    Most Researched33
  • #6,489of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedDCAF4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
DCAF4, a novel gene associated with leucocyte telomere length.
PMID: 25624462
J Med Genet · 2015
1.00
2
Functional variants in DCAF4 associated with lung cancer risk in European populations.
PMID: 28383684
Carcinogenesis · 2017
0.90
3
Inflammation-dependent overexpression of c-Myc enhances CRL4
PMID: 30945288
J Pathol · 2019
0.80
4
Integrated Bioinformatics Analysis of the Hub Genes Involved in Irinotecan Resistance in Colorectal Cancer.
PMID: 35885025
Biomedicines · 2022
0.70
5
Gene-based evaluation of low-frequency variation and genetically-predicted gene expression impacting risk of keloid formation.
PMID: 29484647
Ann Hum Genet · 2018
0.60