Basic Information

Symbol
XRCC4
RNA class
mRNA
Alias
X-Ray Repair Cross Complementing 4 HXRCC4 DNA Repair Protein XRCC4 X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 4 X-Ray Repair, Complementing Defective, Repair In Chinese Hamster X-Ray Repair Cross-Complementing Protein 4 SSMED
Location (GRCh38)
5:83077498-83353787
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Mechanical injury analysis Sudden death from CNS diseases
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_003401.5
Sequence length
1602.0 nt
GC content
0.3571

Transcripts

ID Sequence Length GC content
NM_001318012.3 NCBI
AUUGGUUGCAAAACCUUGAUCUGUGAAAGCGGGCGUUUUGGAAGAUACC… 1655 nt 0.3595
NM_001318013.2 NCBI
AUUGGUUGCAAAACCUUGAUCUGUGAAAGCGGGCGUUUUGGAAGAUACC… 1252 nt 0.4018
NM_003401.5 NCBI
AUUGGUUGCAAAACCUUGAUCUGUGAAAGCGGGCGUUUUGGAAGAUACC… 1602 nt 0.3571
NM_022406.5 NCBI
AUUGGUUGCAAAACCUUGAUCUGUGAAAGCGGGCGUUUUGGAAGAUACC… 1608 nt 0.3570
NM_022550.4 NCBI
AUUGGUUGCAAAACCUUGAUCUGUGAAAGCGGGCGUUUUGGAAGAUACC… 1649 nt 0.3596
Summary

The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternate transcript variants such as NM_022406 are unlikely to be expressed in some individuals due to a polymorphism (rs1805377) in the last splice acceptor site. [provided by RefSeq, Oct 2019]

Forensic Context

A study in rats demonstrated that blast-induced traumatic brain injury produced a dose- and time-dependent upregulation of DNA repair pathway mRNAs, including the XRCC4 [Balaban et al. DOI:10.1016/j.jneumeth.2016.02.001].