Basic Information

Symbol
RAD50
RNA class
mRNA
Alias
RAD50 Double Strand Break Repair Protein HRad50 RAD50 Homolog, Double Strand Break Repair Protein DNA Repair Protein RAD50 RAD50-2 RAD50 (S. Cerevisiae) Homolog RAD50 Homolog (S. Cerevisiae) EC 3.6.3.27 EC 3.6.1.15 EC 3.6.-.- EC 3.6.3 RAD502 HRAD50 NBSLD
Location (GRCh38)
5:132556019-132646349
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Mechanical injury analysis Wound age identification
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_005732.4
Sequence length
8272.0 nt
GC content
0.4125

Transcripts

ID Sequence Length GC content
NM_005732.4 NCBI
ACGUGAUCCGCAGGGCGGCCGAGGCAGGAAGCUGUGAGUGCGCGGUUGC… 8272 nt 0.4125
Summary

The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010] CIViC Summary for RAD50 Gene

Forensic Context

A study in rats demonstrated that blast wave exposure induced a dose- and time-dependent upregulation of the RAD50 mRNA, specifically at 2 and 24 hours after a 14–15 psi exposure, as part of a broader DNA repair response indicative of severe injury [Balaban et al. DOI:10.1016/j.jneumeth.2016.02.001].