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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RNF40
ring finger protein 40
Chromosome 16 · 16p11.2
NCBI Gene: 9810Ensembl: ENSG00000103549.23HGNC: HGNC:16867UniProt: A8K6K1
145PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmmembranemRNA 3'-UTR bindingprotein bindingneurodegenerative diseaselysosomal storage diseaseatrial fibrillationbreast cancer
✦AI Summary

RNF40 (Ring Finger Protein 40) is an E3 ubiquitin ligase that forms a heterodimer with RNF20 to catalyze histone H2B monoubiquitylation at lysine 120 (H2Bub1), a critical epigenetic modification regulating gene transcription and genome stability 12. The RNF20/RNF40 complex binds nucleosomal DNA and positions the E2 enzyme for site-specific ubiquitin transfer to H2B 3. This modification is essential for DNA damage repair, where H2Bub1 facilitates recruitment of repair proteins to double-strand break sites 1. RNF40 functions as both tumor suppressor and oncogene depending on cellular context - it suppresses intestinal inflammation through vitamin D receptor signaling 4 but promotes aggressive behavior in triple-negative breast cancer by supporting glycolysis and cancer stem cell properties 5. Beyond histone modification, RNF40 regulates cell cycle progression through centrosome maturation, undergoing cell cycle-dependent acetylation-to-phosphorylation transitions that control PLK1 recruitment and proper chromosome 16 6. The protein's dual roles in transcriptional regulation and cell division make it a critical epigenetic regulator with significant implications for cancer development and genome stability.

Sources cited
1
RNF40 forms complex with RNF20 to catalyze H2B monoubiquitylation and is involved in DNA damage response
PMID: 21827756
2
RNF40 acts as E3 ubiquitin ligase with tumor suppressor or oncogenic roles in cancer
PMID: 33199825
3
RNF40 binds nucleosomal DNA and mediates site-specific H2B ubiquitylation
PMID: 37633270
4
RNF40 regulates vitamin D receptor signaling and suppresses intestinal inflammation
PMID: 34088983
5
RNF40 promotes cancer stem cell properties and glycolysis in triple-negative breast cancer
PMID: 37770435
6
RNF40 undergoes cell cycle-dependent modifications to control centrosome maturation and chromosome segregation
PMID: 41862458
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
lysosomal storage diseaseOpen Targets
0.32Weak
atrial fibrillationOpen Targets
0.14Weak
breast cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
multiple myelomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
systemic lupus erythematosusOpen Targets
0.05Suggestive
triple-negative breast cancerOpen Targets
0.04Suggestive
inflammatory bowel diseaseOpen Targets
0.04Suggestive
monoclonal gammopathyOpen Targets
0.04Suggestive
myeloid leukemiaOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
hypertensionOpen Targets
0.03Suggestive
juvenile idiopathic arthritisOpen Targets
0.03Suggestive
rheumatoid arthritisOpen Targets
0.03Suggestive
type 1 diabetes mellitusOpen Targets
0.02Suggestive
Nasal Cavity PolypOpen Targets
0.02Suggestive
cervical cancerOpen Targets
0.02Suggestive
rheumatic diseaseOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDC73Protein interaction100%CTR9Protein interaction100%RTF1Protein interaction100%LEO1Protein interaction100%ATMProtein interaction100%SUPT6HProtein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
95%
Ovary
53%
Lung
44%
Heart
38%
Liver
32%
Gene Interaction Network
Click a node to explore
RNF40CDC73CTR9RTF1LEO1ATMSUPT6H
PROTEIN STRUCTURE
Preparing viewer…
PDB8GUJ · 2.80 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.41Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.31 [0.24–0.41]
RankingsWhere RNF40 stands among ~20K protein-coding genes
  • #3,147of 20,598
    Most Researched145 · top quartile
  • #2,057of 17,882
    Most Constrained (LOEUF)0.41 · top quartile
Genes detectedRNF40
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
RNF40 epigenetically modulates glycolysis to support the aggressiveness of basal-like breast cancer.
PMID: 37770435
Cell Death Dis · 2023
1.00
2
RNF20-RNF40: A ubiquitin-driven link between gene expression and the DNA damage response.
PMID: 21827756
FEBS Lett · 2011
0.90
3
Epigenetic modification and a role for the E3 ligase RNF40 in cancer development and metastasis.
PMID: 33199825
Oncogene · 2021
0.80
4
Mechanistic insights into nucleosomal H2B monoubiquitylation mediated by yeast Bre1-Rad6 and its human homolog RNF20/RNF40-hRAD6A.
PMID: 37633270
Mol Cell · 2023
0.70
5
RNF20 and RNF40 regulate vitamin D receptor-dependent signaling in inflammatory bowel disease.
PMID: 34088983
Cell Death Differ · 2021
0.60