BRCA2

乳腺癌二号基因（BRCA2）是一种导致乳腺癌的蛋白质基因，在人体中表达为编码BRCA2的基因其与BRCA1一起构成了乳腺癌的主要致病基因。

BRCA2
已知的结构 PDB 直系同源搜索: PDBe RCSB PDBID列表 1N0W、​3EU7
识别号
别名	BRCA2；, BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD, FANCD1, GLM3, PNCA2, XRCC11, breast cancer 2, DNA repair associated, breast cancer 2, early onset, BRCA2 DNA repair associated, Genes
外部ID	OMIM：600185 MGI：109337 HomoloGene：41 GeneCards：BRCA2
相关疾病
BRCA2 hereditary breast and ovarian cancer syndrome、​Fanconi anemia complementation group D1、​breast carcinoma、​prostate carcinoma、​cerebellar medulloblastoma、​泌尿生殖肿瘤、​卵巢肿瘤、​hereditary breast ovarian cancer[1]
基因位置（人类） 染色体 13号染色体[2] 基因座 13q13.1 起始 32,315,086 bp[2] 终止 32,400,268 bp[2]
基因位置（小鼠） 染色体 小鼠5号染色体[3] 基因座 5 G3|5 89.52 cM 起始 150,446,095 bp[3] 终止 150,493,794 bp[3]
RNA表达模式
查阅更多表达数据
基因本体 分子功能 • DNA结合 • H4 histone acetyltransferase activity • H3 histone acetyltransferase activity • 蛋白酶结合 • histone acetyltransferase activity • 血浆蛋白结合 • gamma-tubulin binding • single-stranded DNA binding • protein C-terminus binding • 相同蛋白质结合 细胞组分 • 中心体 • BRCA2-MAGE-D1 complex • secretory granule • 核质 • 微管组织中心 • 细胞核 • 细胞骨架 • lateral element • 细胞质 • 细胞质基质 • 大分子复合体 生物学过程 • chordate embryonic development • 核苷酸切除修复 • intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator • DNA重组 • regulation of cytokinesis • replication fork protection • centrosome duplication • male meiosis I • negative regulation of mammary gland epithelial cell proliferation • positive regulation of mitotic cell cycle • chromosome organization • female gonad development • inner cell mass cell proliferation • positive regulation of transcription, DNA-templated • telomere maintenance via recombination • brain development • oocyte maturation • histone H3 acetylation • 精子发生 • intrinsic apoptotic signaling pathway in response to DNA damage • establishment of protein localization to telomere • histone H4 acetylation • cellular response to DNA damage stimulus • 细胞周期 • 细胞增殖 • response to gamma radiation • response to UV-C • response to X-ray • DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator • mitotic recombination-dependent replication fork processing • double-strand break repair via homologous recombination • DNA修复 • double-strand break repair • mitotic cytokinesis • 造血作用 • response to nutrient • meiotic DNA repair synthesis involved in reciprocal meiotic recombination • 乳腺发育 • homologous chromosome orientation involved in meiotic metaphase I plate congression • response to estradiol • multicellular organism growth • DNA synthesis involved in double-strand break repair via homologous recombination • meiotic recombination checkpoint signaling Sources:Amigo / QuickGO
直系同源
物种	人类	小鼠
Entrez	675	12190
Ensembl	ENSG00000139618	ENSMUSG00000041147
UniProt	P51587	P97929
mRNA​序列	NM_000059	NM_001081001 ​NM_009765
蛋白序列	NP_000050	NP_001074470 ​NP_033895
基因位置​（UCSC）	Chr 13: 32.32 – 32.4 Mb	Chr 5: 150.45 – 150.49 Mb
PubMed​查找	[4]	[5]
维基数据
查看/编辑人类 查看/编辑小鼠

BRCA1与BRCA2是两种不相关的蛋白质^[6]，但通常都在乳房与其他细胞组织中出现。它们可帮助修复DNA，也可在无法修复DNA的情况下破坏细胞。它们参与染色体损伤的修复，在DNA双链断裂的无错修复中起着重要作用^[6]。如果BRCA1或BRCA2本身因BRCA突变（英语：BRCA mutation）而受损，则受损的DNA无法正确修复，这会增加患乳腺癌的风险^[7]。BRCA1和BRCA2被描述为“乳腺癌易感基因”和“乳腺癌易感蛋白”。主要的等位基因具有正常的肿瘤抑制功能，而这些基因中的高渗透性突变会导致肿瘤抑制功能的丧失，这与患乳腺癌的风险增加相关^[8]。

BRCA2基因位于第十三号染色体的长q臂12.3位（13q12.3）^[9]。人类参考 BRCA 2 基因包含 27 个外显子，该 cDNA 有 10,254 个碱基对编码 3418 个氨基酸的蛋白质。

参考文献

1. 與BRCA2相關的疾病；在維基數據上查看/編輯參考.
2. GRCh38: Ensembl release 89: ENSG00000139618 - Ensembl, May 2017
3. GRCm38: Ensembl release 89: ENSMUSG00000041147 - Ensembl, May 2017
4. Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
6. Haynes, M. Re: Thomas LC, et al. Premanipulative testing and the velocimeter. Manual Therapy (2007), doi:10:1016/j.math.2006.11.003. Manual Therapy. 2008-02, 13 (1): e4. ISSN 1356-689X. doi:10.1016/j.math.2007.09.008.
7. People. Nature Biotechnology. 2007-10, 25 (10): 1186–1186. ISSN 1087-0156. doi:10.1038/nbt1007-1186.
8. Tezuka, Keitaro; Doi, Yoshihiro; Hinatsu, Yukio. Crystal structures and magnetic properties of zircon-type compounds Lu1–xYxCrO4. Journal of Materials Chemistry. 2002-02-25, 12 (4): 1189–1193. ISSN 0959-9428. doi:10.1039/b108483f.
9. Aoyama, Yuichi; Ikeda, Hiroshi; Hayakawa, Hideaki; Doi, Koichiro; Fukuda, Yoichi; Shibuya, Kazuo. Observation and Data Archiving System of a Superconducting Gravimeter at Syowa Station, Antarctica. International Journal of Geosciences. 2015, 06 (10): 1116–1126. ISSN 2156-8359. doi:10.4236/ijg.2015.610087.

外部链接