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: IL5

Alternate names for this Gene: EDF|IL-5|TRF

Gene Summary: This gene encodes a cytokine that acts as a growth and differentiation factor for both B cells and eosinophils. The encoded cytokine plays a major role in the regulation of eosinophil formation, maturation, recruitment and survival. The increased production of this cytokine may be related to pathogenesis of eosinophil-dependent inflammatory diseases. This cytokine functions by binding to its receptor, which is a heterodimer, whose beta subunit is shared with the receptors for interleukine 3 (IL3) and colony stimulating factor 2 (CSF2/GM-CSF). This gene is located on chromosome 5 within a cytokine gene cluster which includes interleukin 4 (IL4), interleukin 13 (IL13), and CSF2 . This gene, IL4, and IL13 may be regulated coordinately by long-range regulatory elements spread over 120 kilobases on chromosome 5q31.

Gene is located in Chromosome: 5

Location in Chromosome : 5q31.1

Description of this Gene: interleukin 5

Type of Gene: protein-coding

rs1339714611 in RAD50;IL5 gene and Neoplastic Syndromes, Hereditary PMID 16385572 2006 Evaluation of RAD50 in familial breast cancer predisposition.

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

PMID 26094658 2015 Detection of novel germline mutations for breast cancer in non-BRCA1/2 families.

PMID 26023681 2015 Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.