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

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

rs2240032 in TH2LCRR;RAD50 gene and Asthma PMID 20860503 2010 A large-scale, consortium-based genomewide association study of asthma.

rs1060501933 in TH2LCRR;RAD50 gene and Neoplastic Syndromes, Hereditary PMID 10892749 2000 Structural biology of Rad50 ATPase: ATP-driven conformational control in DNA double-strand break repair and the ABC-ATPase superfamily.

PMID 24894818 2014 Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.

PMID 25828805 2015 Human RAD50 makes a functional DNA-binding complex.

PMID 28961279 2017 The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.

PMID 21035407 2010 Mre11-Rad50-Nbs1 conformations and the control of sensing, signaling, and effector responses at DNA double-strand breaks.

PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

PMID 21441914 2011 ABC ATPase signature helices in Rad50 link nucleotide state to Mre11 interface for DNA repair.

PMID 17386254 2007 Learning our ABCs: Rad50 directs MRN repair functions via adenylate kinase activity from the conserved ATP binding cassette.

PMID 19409520 2009 Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.

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