XRCC4
X-ray repair cross-complementing 4
Gene Information Card
| Symbol | XRCC4 |
|---|---|
| Full Name | X-ray repair cross-complementing 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q14.2 |
| NCBI Gene ID | 7518 ncbi.nlm.nih.gov/gene/7518 |
| Ensembl ID | ENSG00000152422 |
| UniProt ID | Q13426 |
| OMIM ID | 194363 |
| HGNC ID | 12831 |
| Aliases | X-ray repair cross-complementing protein 4, DNA repair protein XRCC4 |
Description
XRCC4 encodes a protein essential for the non-homologous end joining (NHEJ) pathway of DNA double-strand break repair. It forms a complex with DNA ligase IV and is required for V(D)J recombination, which is critical for immune system development. Defects in XRCC4 cause microcephaly, growth retardation, and immunodeficiency, and are associated with increased cancer susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly, growth retardation, and immunodeficiency (MGRID) | Loss-of-function mutations impair NHEJ, leading to defective V(D)J recombination and neuronal development | OMIM #616541 |
| Acute lymphoblastic leukemia (ALL) | Somatic mutations or deletions in XRCC4 may contribute to genomic instability | COSMIC, ClinVar |
| Breast cancer | Altered XRCC4 expression or polymorphisms may affect DNA repair capacity | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 10.2 | Medium |
| Bone marrow | 8.5 | Medium |
| Lymph node | 7.1 | Medium |
| Brain | 5.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | Embryonic kidney |
| HeLa | 9.8 | Cervical carcinoma |
| K562 | 8.1 | Leukemia |
| HepG2 | 6.5 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.139C>T (p.Arg47*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.517G>A (p.Gly173Arg) | Missense | Rare | Impaired ligase IV binding |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations that abolish XRCC4 protein expression or disrupt NHEJ activity.
Gain of Function (GOF)
Not reported for XRCC4.
Dominant Negative (DN)
Not reported; XRCC4 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • DNA double-strand break repair via nonhomologous end joining | • V(D)J recombination |
| • DNA ligase IV complex | • nucleus |
| • protein binding |
Pathways
• Non-homologous end joining (NHEJ)
• DNA double-strand break repair
• V(D)J recombination
Protein Summary
XRCC4 is a 334-amino acid protein that forms a stable complex with DNA ligase IV. It stabilizes ligase IV and stimulates its activity in NHEJ. The protein contains a globular head domain and a coiled-coil tail that mediates dimerization and interactions with other repair factors. XRCC4 is phosphorylated by DNA-PKcs, which regulates its function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| XRCC4 Knockout HEK293 Cell Line | EDJ-KQ2752 | Human | 7518 | Details Get a Quote |
| XRCC4 Knockout HCT 116 Cell Line | EDJ-KQ22275 | Human | 7518 | Details Get a Quote |
| XRCC4 Knockout A-549 Cell Line | EDJ-KQ23644 | Human | 7518 | Details Get a Quote |
| XRCC4 Knockout HeLa Cell Line | EDJ-KQ23645 | Human | 7518 | Details Get a Quote |
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