HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RNF8
ring finger protein 8
Chromosome 6 · 6p21.2
NCBI Gene: 9025Ensembl: ENSG00000112130.18HGNC: HGNC:10071UniProt: O76064
159PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly ConstrainedHub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA repair-dependent chromatin remodelingubiquitin ligase complexprotein bindingzinc ion bindingneurodegenerative diseasebreast cancercancerneoplasm
✦AI Summary

RNF8 is an E3 ubiquitin ligase that serves as a central hub in DNA damage signaling, orchestrating both histone ubiquitination and protein degradation through distinct lysine-linkage mechanisms 1. Upon double-strand breaks (DSBs), RNF8 catalyzes Lys-63-linked ubiquitination of histones H2A and H2AX, promoting recruitment of repair proteins TP53BP1 and BRCA1 to damage sites 2. Simultaneously, RNF8 mediates Lys-48-linked ubiquitination to degrade target proteins like KU80 and JMJD2A, facilitating non-homologous end joining 3. RNF8's role extends beyond canonical DSB repair: it ubiquitylates XRN2 to resolve R-loops, and its loss in BRCA1-mutant cells causes synthetic lethality through R-loop accumulation 4. Additionally, RNF8 functions at uncapped telomeres by promoting histone H2A ubiquitination and TP53BP1 recruitment, though this may paradoxically enhance genome instability during telomeric crisis 5. In spermatogenesis, RNF8 mediates histone-to-protamine exchange, with MIWI sequestration of RNF8 causing male infertility 6. RNF8 is also critical for optimal cell cycle checkpoint activation; UBE2T-mediated H2AX monoubiquitination by RNF8 facilitates CHK1 activation, regulating radiotherapy sensitivity 7. These multifaceted functions implicate RNF8 dysregulation in cancer development and therapeutic resistance.

Sources cited
1
Histone ubiquitination plays central role in genome stability and DNA damage response signaling
PMID: 33485674
2
RNF8 catalyzes Lys-63-linked ubiquitination of H2A/H2AX at DSBs to promote DNA repair
PMID: 40055579
3
RNF8 is central to DSB signaling and has multiple roles in DNA damage response, telomere protection, cell cycle control, and cancer progression
PMID: 31182912
4
RNF8 ubiquitylates XRN2 to facilitate R-loop resolution; RNF8 deficiency in BRCA1-mutant cells causes synthetic lethality
PMID: 37697435
5
RNF8 plays critical roles at natural chromosome ends when telomeres are compromised
PMID: 22555600
6
RNF8 mediates histone-to-protamine exchange during spermiogenesis; MIWI-mediated RNF8 sequestration causes male infertility
PMID: 28552346
7
UBE2T-RNF8 E2-E3 pair monoubiquitinates H2AX to facilitate CHK1 activation and cell cycle checkpoint control
PMID: 33087136
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.30Weak
breast cancerOpen Targets
0.11Weak
cancerOpen Targets
0.10Weak
neoplasmOpen Targets
0.09Suggestive
triple-negative breast cancerOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
urinary bladder carcinomaOpen Targets
0.08Suggestive
medulloblastomaOpen Targets
0.07Suggestive
pachyonychia congenitaOpen Targets
0.06Suggestive
gliomaOpen Targets
0.05Suggestive
Ischemic strokeOpen Targets
0.05Suggestive
melanomaOpen Targets
0.05Suggestive
combined immunodeficiency due to CTPS1 deficiencyOpen Targets
0.05Suggestive
Bloom syndromeOpen Targets
0.05Suggestive
ataxia telangiectasiaOpen Targets
0.05Suggestive
Ataxia-telangiectasiaOpen Targets
0.05Suggestive
gamma chain deficiencyOpen Targets
0.04Suggestive
immunodeficiency 105Open Targets
0.04Suggestive
immunodeficiency 121 with autoinflammationOpen Targets
0.04Suggestive
immunodeficiency 64Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ABRAXAS1Protein interaction100%BRCA1Protein interaction100%BRCC3Protein interaction100%PIAS1Protein interaction100%UBE2IProtein interaction100%UBE2L6Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Heart
74%
Ovary
63%
Lung
50%
Liver
43%
Bone Marrow
41%
Gene Interaction Network
Click a node to explore
RNF8ABRAXAS1BRCA1BRCC3PIAS1UBE2IUBE2L6
PROTEIN STRUCTURE
Preparing viewer…
PDB2PIE · 1.35 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.22Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.11 [0.06–0.22]
RankingsWhere RNF8 stands among ~20K protein-coding genes
  • #2,836of 20,598
    Most Researched159 · top quartile
  • #581of 17,882
    Most Constrained (LOEUF)0.22 · top 5%
Genes detectedRNF8
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
Histone Ubiquitination: An Integrative Signaling Platform in Genome Stability.
PMID: 33485674
Trends Genet · 2021
1.00
2
ZNF451 collaborates with RNF8 to regulate RNF168 localization and amplify ubiquitination signaling to promote DNA damage repair and regulate radiosensitivity.
PMID: 40055579
Cell Death Differ · 2025
0.90
3
UBE2T-regulated H2AX monoubiquitination induces hepatocellular carcinoma radioresistance by facilitating CHK1 activation.
PMID: 33087136
J Exp Clin Cancer Res · 2020
0.80
4
RNF8 ubiquitylation of XRN2 facilitates R-loop resolution and restrains genomic instability in BRCA1 mutant cells.
PMID: 37697435
Nucleic Acids Res · 2023
0.70
5
Translational regulation of SND1 governs endothelial homeostasis during stress.
PMID: 39895626
J Clin Invest · 2025
0.68