Gene: RAD50

Alternate names for this Gene: NBSLD|RAD502|hRad50

Gene 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q31.1

Description of this Gene: RAD50 double strand break repair protein

Type of Gene: protein-coding

Gene: TH2LCRR

Alternate names for this Gene: TH2-LCR

Gene Summary:

Gene is located in Chromosome: 5

Location in Chromosome : 5q31.1

Description of this Gene: T helper type 2 locus control region associated RNA

Type of Gene: ncRNA

rs2040704 in RAD50;TH2LCRR gene and Asthma PMID 27611488 2017 Identification of Four Novel Loci in Asthma in European American and African American Populations.

PMID 21907864 2011 Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.

PMID 20860503 2010 A large-scale, consortium-based genomewide association study of asthma.

PMID 20159242 2010 Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions.

rs6871536 in RAD50;TH2LCRR gene and Childhood asthma PMID 24241537 2014 A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations.

rs6871536 in RAD50;TH2LCRR gene and Dermatitis, Atopic PMID 23886662 2013 A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.

rs151131414 in RAD50;TH2LCRR gene and Neoplastic Syndromes, Hereditary PMID 19409520 2009 Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.

PMID 16385572 2006 Evaluation of RAD50 in familial breast cancer predisposition.