其他名称： BRCA2; FACD; FANCD1; Breast cancer type 2 susceptibility protein; Fanconi anemia group D1 protein
分子量： 384kD
信号通路： Homologous recombination;Pathways in cancer;Pancreatic cancer;
功能： 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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus . Cytoplasm, cytoskeleton, microtubule organizing center, centrosome . Colocalizes with ERCC5/XPG to nuclear foci following DNA replication stress. .
组织表达： Highest levels of expression in breast and thymus, with slightly lower levels in lung, ovary and spleen.
其他名称： BRCA2; FACD; FANCD1; Breast cancer type 2 susceptibility protein; Fanconi anemia group D1 protein
分子量： 384kD
信号通路： Homologous recombination;Pathways in cancer;Pancreatic cancer;
功能： 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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus . Cytoplasm, cytoskeleton, microtubule organizing center, centrosome . Colocalizes with ERCC5/XPG to nuclear foci following DNA replication stress. .
组织表达： Highest levels of expression in breast and thymus, with slightly lower levels in lung, ovary and spleen.
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