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GeneE
28 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
XRCC4
X-ray repair cross complementing 4
Chromosome 5 Β· 5q14.2
NCBI Gene: 7518Ensembl: ENSG00000152422.17HGNC: HGNC:12831UniProt: Q13426
289PubMed Papers
21Diseases
0Drugs
22Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytosolligase activitycondensed chromosomeprotein bindingshort stature, microcephaly, and endocrine dysfunctionmicrocephalic primordial dwarfism-insulin resistance syndromeneurodegenerative diseaseisolated growth hormone deficiency type IA
✦AI Summary

XRCC4 (X-ray repair cross-complementing 4) is a critical scaffolding protein in non-homologous end joining (NHEJ), the primary double-strand break (DSB) repair pathway in mammalian cells 1. XRCC4 functions as a structural component that stabilizes DNA ligase IV and facilitates assembly of the NHEJ machinery at DSB sites 2. The protein forms long helical filaments with XRCC4-like factor (XLF), creating a protective scaffold that aligns broken DNA ends for accurate ligation without requiring long DNA overhangs 2. XRCC4 additionally interacts with accessory factors including PAXX, which provide complementary advantages for DNA end synapsis 3. Beyond canonical NHEJ, XRCC4 undergoes caspase-3 cleavage during apoptosis, generating a cytoplasmic form that activates phospholipid scramblase activity of XKR4, promoting phosphatidylserine exposure on apoptotic cell surfaces [PubMed:33725486]. Dysfunction of XRCC4 impairs efficient DSB repair, contributing to genomic instability and disease. XRCC4 gene polymorphisms are associated with glioma susceptibility in human populations 4. In glioblastoma, therapeutic resistance correlates with elevated NHEJ activity through XRCC4-mediated mechanisms 5. Germline XRCC4 mutations cause short stature, microcephaly, and endocrine dysfunction, reflecting critical roles in developmental processes requiring precise DNA repair.

Sources cited
1
XRCC4 is a core NHEJ component that promotes accumulation and stabilization of repair factors at DSBs
PMID: 18335491
2
XRCC4 and XLF form helical filaments that protect and align DNA ends during NHEJ
PMID: 23442139
3
XRCC4 interacts with accessory protein PAXX to provide complementary advantages in DNA end joining
PMID: 37256950
4
Caspase-3-cleaved XRCC4 activates XKR4 phospholipid scramblase activity during apoptosis
PMID: 33725486
5
XRCC4 gene polymorphisms are associated with glioma risk in human populations
PMID: 25973104
6
XRCC4-mediated NHEJ elevation contributes to glioblastoma therapeutic resistance
PMID: 40436899
Disease Associationsβ“˜21
short stature, microcephaly, and endocrine dysfunctionOpen Targets
0.73Strong
microcephalic primordial dwarfism-insulin resistance syndromeOpen Targets
0.70Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
isolated growth hormone deficiency type IAOpen Targets
0.46Moderate
HIV infectionOpen Targets
0.46Moderate
microcephalic primordial dwarfismOpen Targets
0.37Weak
Fanconi anemia complementation group QOpen Targets
0.37Weak
Non-acquired isolated growth hormone deficiencyOpen Targets
0.33Weak
androgenetic alopeciaOpen Targets
0.31Weak
endometriosisOpen Targets
0.28Weak
rheumatoid arthritisOpen Targets
0.26Weak
dyshidrosisOpen Targets
0.26Weak
multinodular goiterOpen Targets
0.25Weak
facial morphologyOpen Targets
0.22Weak
placenta praeviaOpen Targets
0.21Weak
skin neoplasmOpen Targets
0.20Weak
agingOpen Targets
0.20Weak
head and neck malignant neoplasiaOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
Atypical behaviorOpen Targets
0.19Weak
Short stature, microcephaly, and endocrine dysfunctionUniProt
Pathogenic Variants22
NM_003401.5(XRCC4):c.25del (p.His9fs)Pathogenic
Short stature, microcephaly, and endocrine dysfunction|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 9
NM_003401.5(XRCC4):c.673C>T (p.Arg225Ter)Pathogenic
Short stature, microcephaly, and endocrine dysfunction|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 225
NM_003401.5(XRCC4):c.34del (p.Ser12fs)Pathogenic
not provided|Short stature, microcephaly, and endocrine dysfunction
β˜…β˜…β˜†β˜†2024β†’ Residue 12
NM_003401.5(XRCC4):c.140-2A>GLikely pathogenic
Short stature, microcephaly, and endocrine dysfunction|not provided
β˜…β˜…β˜†β˜†2024
NM_003401.5(XRCC4):c.481C>T (p.Arg161Ter)Pathogenic
Short stature, microcephaly, and endocrine dysfunction|XRCC4-related disorder|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 161
NM_003401.5(XRCC4):c.628A>T (p.Lys210Ter)Likely pathogenic
Short stature, microcephaly, and endocrine dysfunction
β˜…β˜…β˜†β˜†2021β†’ Residue 210
NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg)Pathogenic
Ateleiotic dwarfism|Short stature, microcephaly, and endocrine dysfunction|not provided|XRCC4-related disorder
β˜…β˜…β˜†β˜†2020β†’ Residue 43
NM_003401.5(XRCC4):c.189del (p.Lys65fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 65
NM_003401.5(XRCC4):c.613C>T (p.Arg205Ter)Pathogenic
Short stature, microcephaly, and endocrine dysfunction
β˜…β˜†β˜†β˜†2024β†’ Residue 205
NM_003401.5(XRCC4):c.37G>T (p.Glu13Ter)Pathogenic
Short stature, microcephaly, and endocrine dysfunction
β˜…β˜†β˜†β˜†2024β†’ Residue 13
NM_003401.5(XRCC4):c.445G>T (p.Glu149Ter)Likely pathogenic
Short stature, microcephaly, and endocrine dysfunction
β˜…β˜†β˜†β˜†2024β†’ Residue 149
NM_003401.5(XRCC4):c.823C>T (p.Arg275Ter)Pathogenic
Short stature, microcephaly, and endocrine dysfunction
β˜…β˜†β˜†β˜†2023β†’ Residue 275
NM_003401.5(XRCC4):c.179del (p.Ala60fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 60
NM_003401.5(XRCC4):c.452_455del (p.Leu151fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 151
NM_003401.5(XRCC4):c.760del (p.Asp254fs)Likely pathogenic
Short stature, microcephaly, and endocrine dysfunction|not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 254
NM_003401.5(XRCC4):c.265del (p.Ser89fs)Likely pathogenic
Short stature, microcephaly, and endocrine dysfunction
β˜…β˜†β˜†β˜†2021β†’ Residue 89
NM_003401.5(XRCC4):c.859del (p.Ala287fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 287
NM_003401.5(XRCC4):c.-10-1G>CLikely pathogenic
Short stature, microcephaly, and endocrine dysfunction
β˜…β˜†β˜†β˜†
NM_003401.5(XRCC4):c.482G>A (p.Arg161Gln)Pathogenic
Short stature, microcephaly, and endocrine dysfunction
β˜†β˜†β˜†β˜†2015β†’ Residue 161
NM_003401.5(XRCC4):c.246T>G (p.Asp82Glu)Pathogenic
Short stature, microcephaly, and endocrine dysfunction
β˜†β˜†β˜†β˜†2015β†’ Residue 82
View on ClinVar β†—
Related Genes
DNTTProtein interaction100%RAG2Protein interaction100%XPAProtein interaction100%APLFProtein interaction100%APTXProtein interaction100%PNKPProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
59%
Brain
47%
Lung
45%
Liver
30%
Ovary
23%
Gene Interaction Network
Click a node to explore
XRCC4DNTTRAG2XPAAPLFAPTXPNKP
PROTEIN STRUCTURE
Preparing viewer…
PDB5E50 Β· 1.38 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.03LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.75 [0.55–1.03]
RankingsWhere XRCC4 stands among ~20K protein-coding genes
  • #1,238of 20,598
    Most Researched289 Β· top 10%
  • #2,085of 5,498
    Most Pathogenic Variants22
  • #10,218of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedXRCC4
Sources retrieved28 papers
Response timeβ€”
πŸ“„ Sources
28β–Ό
1
Dynamic assemblies and coordinated reactions of non-homologous end joining.
PMID: 40500445
Nature Β· 2025
1.00
2
Role and regulation of human XRCC4-like factor/cernunnos.
PMID: 18335491
J Cell Biochem Β· 2008
0.90
3
The
PMID: 32493081
J Int Med Res Β· 2020
0.88
4
Role of Paralogue of XRCC4 and XLF in DNA Damage Repair and Cancer Development.
PMID: 35309348
Front Immunol Β· 2022
0.80
5
Extracellular vesicle-packaged circBIRC6 from cancer-associated fibroblasts induce platinum resistance via SUMOylation modulation in pancreatic cancer.
PMID: 38012734
J Exp Clin Cancer Res Β· 2023
0.76