BRCA2

Breast cancer type 2 susceptibility protein ;
Fanconi anemia group D1 protein ;

disease:Defects in BRCA2 are a cause of genetic susceptibility to breast cancer (BC) [MIM:612555, 114480]; also called susceptibility to familial breast-ovarian cancer type 2 (BROVCA2). BC is an extremely common malignancy, affecting one in eight women during their lifetime. A positive family history has been identified as major contributor to risk of development of the disease, and this link is striking for early-onset breast cancer. Mutations in BRCA2 are thought to be responsible for some inherited breast cancer. It is linked with male breast cancer.,disease:Defects in BRCA2 are the cause of Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724]. Fanconi anemia [MIM:227650] is an autosomal recessive disorder affecting all bone marrow elements and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes.,function:Involved in double-strand break repair and/or homologous recombination. May participate in S phase checkpoint activation.,online information:BRCA2 entry,polymorphism:Genetic variations in BRCA2 may underlie susceptibility to uveal melanoma [MIM:155720]. Uveal melanoma is the most common type of ocular malignant tumor, consisting of overgrowth of uveal melanocytes and often preceded by a uveal nevus.,PTM:Phosphorylated by ATM upon irradiation-induced DNA damage.,similarity:Contains 8 BRCA2 repeats.,subunit:Interacts with RAD51 and DSS1. Interacts with ubiquitinated FANCD2. Interacts with PALB2, enables the recombinational repair and checkpoints functions. Interacts with WDR16.,tissue specificity:Highest levels of expression in breast and thymus, with slightly lower levels in lung, ovary and spleen.,

microtubule cytoskeleton organization, M phase, double-strand break repair via homologous recombination,recombinational repair, cytokinesis, oocyte maturation, in utero embryonic development, blastocyst development,blastocyst growth, inner cell mass cell proliferation, immune system development, reproductive developmental process, DNA metabolic process, DNA replication, DNA-dependent DNA replication, regulation of DNA replication, DNA repair, nucleotide-excision repair, double-strand break repair, DNA recombination, regulation of transcription, DNA-dependent, induction of apoptosis, response to DNA damage stimulus, DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator, cytoskeleton organization, microtubule-based process, cell cycle, regulation of S phase of mitotic cell cycle, centrosome cycle, meiosis, male meiosis, male meiosis I,intracellular signaling cascade, gamete generation, germ cell development, spermatogenesis, female gamete generation, regulation of mitotic cell cycle, sex differentiation, aging, cell aging, response to nutrient, negative regulation of DNA replication, cell proliferation, negative regulation of cell proliferation, gonad development, female gonad development, induction of apoptosis by intracellular signals, DNA damage response, signal transduction resulting in induction of apoptosis, response to radiation, response to UV, response to light stimulus, response to abiotic stimulus, response to endogenous stimulus, response to hormone stimulus, embryonic development ending in birth or egg hatching, negative regulation of biosynthetic process, response to extracellular stimulus, oocyte differentiation, response to organic substance, response to X-ray, response to ionizing radiation, response to UV-C,response to gamma radiation, negative regulation of macromolecule biosynthetic process, regulation of cell cycle process, negative regulation of macromolecule metabolic process, regulation of cell death, positive regulation of cell death, induction of programmed cell death, response to organic cyclic substance, sexual reproduction, developmental maturation, cell cycle process, cell cycle phase, hemopoiesis, DNA damage response, signal transduction by p53 class mediator, mammary gland development, microtubule organizing center organization, negative regulation of cellular biosynthetic process, response to nutrient levels, multicellular organism reproduction, cytokinesis during cell cycle,regulation of S phase, cellular response to stress, response to genistein, regulation of mammary gland epithelial cell proliferation, negative regulation of mammary gland epithelial cell proliferation, hemocyte proliferation, multicellular organism growth, growth, regulation of cell proliferation, DNA damage response, signal transduction, DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis, DNA damage response, signal transduction resulting in transcription, regulation of apoptosis, chordate embryonic development, positive regulation of apoptosis, regulation of programmed cell death, positive regulation of programmed cell death, response to estrogen stimulus, maintenance of fidelity during DNA-dependent DNA replication, development of primary sexual characteristics, regulation of transcription, positive regulation of cell cycle, positive regulation of mitotic cell cycle,negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process, development of primary female sexual characteristics, female sex differentiation, male gamete generation, cell maturation, oogenesis,replication fork protection, hemopoietic or lymphoid organ development, response to steroid hormone stimulus,developmental growth, oocyte development, reproductive structure development, reproductive process in a multicellular organism, reproductive cellular process, gland development, regulation of epithelial cell proliferation,negative regulation of epithelial cell proliferation, regulation of DNA metabolic process, negative regulation of DNA metabolic process, negative regulation of nitrogen compound metabolic process, regulation of RNA metabolic process,chromosome organization, centrosome organization, centrosome duplication, cell division, meiotic cell cycle, M phase of meiotic cell cycle, regulation of cell cycle,

Nucleus . Cytoplasm, cytoskeleton, microtubule organizing center, centrosome . Colocalizes with ERCC5/XPG to nuclear foci following DNA replication stress. .

Highest levels of expression in breast and thymus, with slightly lower levels in lung, ovary and spleen.