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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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XRCC5
X-ray repair cross complementing 5
Chromosome 2 · 2q35
NCBI Gene: 7520Ensembl: ENSG00000079246.17HGNC: HGNC:12833UniProt: P13010
708PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly ConstrainedHub GeneTranscription Factor
RESEARCH IMPACT
Highly Studied
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusnucleoplasmDNA end binding5'-deoxyribose-5-phosphate lyase activityHIV infectionalopecia areatahepatocellular carcinomabreast cancer
✦AI Summary

XRCC5 (Ku80) is a DNA-binding protein essential for double-strand break (DSB) repair through classical non-homologous end joining (NHEJ) 1. It forms a Ku70:Ku80 heterodimer that binds DSB ends and recruits repair factors to assemble the core NHEJ complex, facilitating broken DNA ligation 1. XRCC5 also possesses 5'-deoxyribose-5-phosphate lyase activity, cleaning abasic site termini to prepare DNA ends for ligation. Beyond DSB repair, XRCC5 contributes to V(D)J recombination, enabling antibody and T-cell receptor diversity generation 1. The protein participates in telomere maintenance and transcriptional regulation as a cofactor, and assists in innate immune responses by facilitating IRF3 phosphorylation through the HDP-RNP complex. Additionally, XRCC5 binds cellular RNAs and recruits DNA-dependent protein kinase to facilitate ribosomal RNA biogenesis. Disease relevance is substantial: XRCC5 polymorphisms (rs3835 G>A, rs828907 G>T) are associated with increased breast cancer risk 2, and genetic variation in XRCC5 influences alcohol dependence susceptibility 3. In colorectal cancer, DCLK1-mediated phosphorylation of XRCC5 activates COX2 transcription, promoting cancer stemness and inflammation 4. These findings highlight XRCC5's dual role in genomic stability and disease pathogenesis, with potential therapeutic implications for cancer and other disorders.

Sources cited
1
XRCC5 is the Ku80 protein; binds DSB ends and participates in DNA repair and V(D)J recombination
PMID: 8073286
2
XRCC5 polymorphisms rs3835 G>A and rs828907 G>T increase breast cancer risk
PMID: 23098447
3
XRCC5 genetic variation influences alcohol dependence susceptibility in humans and animals
PMID: 25035082
4
DCLK1 phosphorylates XRCC5, which activates COX2 transcription and promotes colorectal cancer stemness
PMID: 35910805
5
Ku proteins participate in canonical NHEJ, with XRCC5 as the Ku80 component
PMID: 28754468
Disease Associationsⓘ20
HIV infectionOpen Targets
0.50Moderate
alopecia areataOpen Targets
0.23Weak
hepatocellular carcinomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.10Weak
neoplasmOpen Targets
0.10Weak
esophageal squamous cell carcinomaOpen Targets
0.10Suggestive
lung adenocarcinomaOpen Targets
0.10Suggestive
FRAXF syndromeOpen Targets
0.09Suggestive
lung cancerOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
melanomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
Alymphoid cystic thymic dysgenesisOpen Targets
0.07Suggestive
cancerOpen Targets
0.06Suggestive
mosaic variegated aneuploidy syndrome 4Open Targets
0.06Suggestive
combined immunodeficiency with skin granulomasOpen Targets
0.06Suggestive
immunodeficiency 15aOpen Targets
0.06Suggestive
immunodeficiency 19Open Targets
0.06Suggestive
common variable immunodeficiencyOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAG2Protein interaction100%APLFProtein interaction100%CYRENProtein interaction100%TOP1Protein interaction100%ATMProtein interaction98%CETN2Protein interaction98%
Tissue Expression6 tissues
Brain
100%
Heart
48%
Bone Marrow
46%
Lung
43%
Ovary
42%
Liver
35%
Gene Interaction Network
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XRCC5RAG2APLFCYRENTOP1ATMCETN2
PROTEIN STRUCTURE
Preparing viewer…
PDB3RZ9 · 2.29 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.19Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.11 [0.07–0.19]
RankingsWhere XRCC5 stands among ~20K protein-coding genes
  • #303of 20,598
    Most Researched708 · top 5%
  • #410of 17,882
    Most Constrained (LOEUF)0.19 · top 5%
Genes detectedXRCC5
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Association between XRCC5, 6 and 7 gene polymorphisms and the risk of breast cancer: a HuGE review and meta-analysis.
PMID: 23098447
Asian Pac J Cancer Prev · 2012
1.00
2
[Correlation between XRCC2 and XRCC5 single nucleotide polymorphisms and drug-sensitivity of human lung cancer cells].
PMID: 19192406
Zhonghua Yi Xue Za Zhi · 2008
0.94
3
Role of the XRCC5/XRCC6 dimer in carcinogenesis and pharmacogenomics.
PMID: 21521024
Pharmacogenomics · 2011
0.90
4
Biological functions of miRNA-188-5p/XRCC5 in the metastasis of glioma.
PMID: 34076980
J BUON · 2021
0.80
5
Telomeric tethers.
PMID: 10638738
Nature · 2000
0.80