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26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RNF20
ring finger protein 20
Chromosome 9 · 9q31.1
NCBI Gene: 56254Ensembl: ENSG00000155827.13HGNC: HGNC:10062UniProt: Q5VTR2
184PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of mitotic cell cycleubiquitin-protein transferase activityp53 bindingpositive regulation of transcription by RNA polymerase IIneurodegenerative diseaseneoplasmbreast cancerlung adenocarcinoma
✦AI Summary

RNF20 is an E3 ubiquitin ligase that primarily catalyzes histone H2B monoubiquitination (H2Bub1) and plays critical roles in transcriptional regulation, DNA damage response, and cellular homeostasis 1. As part of the RNF20/RNF40 complex, it functions as a tumor suppressor by regulating p53-dependent gene transcription and mRNA splicing, specifically controlling expression of tumor suppressor genes like p21 and PUMA 2. RNF20 mediates RNA polymerase II promoter-proximal pausing at highly paused genes involved in VEGFA signaling, stress response, and cell cycle control, which is crucial for angiogenesis regulation 3. Beyond its ligase activity, RNF20 acts as a recombination mediator, promoting Rad51 filament formation during homologous recombination repair while counteracting helicases that disrupt DNA repair 4. Clinically, RNF20 haploinsufficiency increases lung tumor incidence through metabolic rewiring via HIF1α 5, and its expression is reduced in congenital heart disease patients, where it normally prevents endothelial-to-mesenchymal transition and maintains proper cardiac development 6. RNF20 also regulates immune homeostasis by serving as a negative regulator of Foxp3 in regulatory T cells 7.

Sources cited
1
RNF20 is an E3 ubiquitin ligase that catalyzes H2B monoubiquitylation and functions as a tumor suppressor
PMID: 21827756
2
RNF20/40 complex associates with p53 and regulates p53-dependent transcription of p21 and PUMA via H2B ubiquitination
PMID: 31152661
3
RNF20 mediates RNA polymerase II promoter-proximal pausing at genes involved in VEGFA signaling and angiogenesis
PMID: 39322771
4
RNF20 functions as a recombination mediator promoting Rad51 filament formation independent of ligase activity
PMID: 37230987
5
RNF20 haploinsufficiency increases lung tumor incidence through HIF1α-mediated metabolic rewiring
PMID: 40436847
6
RNF20 expression is reduced in congenital heart disease patients and prevents endothelial-to-mesenchymal transition
PMID: 41145490
7
RNF20 serves as a negative regulator of Foxp3 in regulatory T cells
PMID: 32499641
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.49Moderate
neoplasmOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
inflammatory bowel diseaseOpen Targets
0.08Suggestive
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
lung cancerOpen Targets
0.06Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.05Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.05Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.05Suggestive
Tourette syndromeOpen Targets
0.05Suggestive
schizophrenia 15Open Targets
0.05Suggestive
autismOpen Targets
0.05Suggestive
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiencyOpen Targets
0.04Suggestive
Phelan-McDermid syndromeOpen Targets
0.04Suggestive
T-B+ severe combined immunodeficiency due to JAK3 deficiencyOpen Targets
0.04Suggestive
X-linked lymphoproliferative diseaseOpen Targets
0.04Suggestive
familial adenomatous polyposis 3Open Targets
0.04Suggestive
combined immunodeficiency due to ZAP70 deficiencyOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
WACProtein interaction100%LEO1Protein interaction100%CDC73Protein interaction100%H3C12Protein interaction99%H2BC13Protein interaction98%H2AC18Protein interaction97%
Tissue Expression6 tissues
Brain
100%
Heart
83%
Ovary
39%
Lung
35%
Bone Marrow
31%
Liver
26%
Gene Interaction Network
Click a node to explore
RNF20WACLEO1CDC73H3C12H2BC13H2AC18
PROTEIN STRUCTURE
Preparing viewer…
PDB5TRB · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.84LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.69 [0.57–0.84]
RankingsWhere RNF20 stands among ~20K protein-coding genes
  • #2,355of 20,598
    Most Researched184 · top quartile
  • #7,224of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedRNF20
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
CRISPR screen in regulatory T cells reveals modulators of Foxp3.
PMID: 32499641
Nature · 2020
1.00
2
RNF20-mediated transcriptional pausing and VEGFA splicing orchestrate vessel growth.
PMID: 39322771
Nat Cardiovasc Res · 2024
0.90
3
Hypoxia-inducible factor 1 recruits FACT and RNF20/40 to mediate histone ubiquitination and transcriptional activation of target genes.
PMID: 38517892
Cell Rep · 2024
0.84
4
Bre1/RNF20 promotes Rad51-mediated strand exchange and antagonizes the Srs2/FBH1 helicases.
PMID: 37230987
Nat Commun · 2023
0.80
5
Mechanistic insights into nucleosomal H2B monoubiquitylation mediated by yeast Bre1-Rad6 and its human homolog RNF20/RNF40-hRAD6A.
PMID: 37633270
Mol Cell · 2023
0.76