BRCA2

乳腺癌二號基因（BRCA2）是一種導致乳腺癌的蛋白質基因，在人體中表達為編碼BRCA2的基因其與BRCA1一起構成了乳腺癌的主要致病基因。

BRCA2
已知的結構 PDB 直系同源搜尋: PDBe RCSB PDBID列表 1N0W、​3EU7
識別號
別名	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
相關疾病
BRCA2 hereditary breast and ovarian cancer syndrome、​Fanconi anemia complementation group D1、​breast carcinoma、​prostate carcinoma、​cerebellar medulloblastoma、​泌尿生殖腫瘤、​卵巢腫瘤、​hereditary breast ovarian cancer[1]
基因位置（人類） 染色體 13號染色體[2] 基因座 13q13.1 起始 32,315,086 bp[2] 終止 32,400,268 bp[2]
基因位置（小鼠） 染色體 小鼠5號染色體[3] 基因座 5 G3|5 89.52 cM 起始 150,446,095 bp[3] 終止 150,493,794 bp[3]
RNA表達模式
查閱更多表達數據
基因本體 分子功能 • DNA結合 • H4 histone acetyltransferase activity • H3 histone acetyltransferase activity • 蛋白酶結合 • histone acetyltransferase activity • 血漿蛋白結合 • gamma-tubulin binding • single-stranded DNA binding • protein C-terminus binding • 相同蛋白質結合 細胞組分 • 中心體 • BRCA2-MAGE-D1 complex • secretory granule • 核質 • 微管組織中心 • 細胞核 • 細胞骨架 • lateral element • 細胞質 • 細胞質基質 • 大分子複合體 生物學過程 • chordate embryonic development • 核苷酸切除修復 • intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator • DNA重組 • 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 • 精子發生 • intrinsic apoptotic signaling pathway in response to DNA damage • establishment of protein localization to telomere • histone H4 acetylation • cellular response to DNA damage stimulus • 細胞週期 • 細胞增殖 • 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修復 • double-strand break repair • mitotic cytokinesis • 造血作用 • response to nutrient • meiotic DNA repair synthesis involved in reciprocal meiotic recombination • 乳腺發育 • 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
物種	人類	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]
維基數據
檢視/編輯人類 檢視/編輯小鼠

BRCA1與BRCA2是兩種不相關的蛋白質^[6]，但通常都在乳房與其他細胞組織中出現。它們可幫助修復DNA，也可在無法修復DNA的情況下破壞細胞。它們參與染色體損傷的修復，在DNA雙鏈斷裂的無錯修復中起着重要作用^[6]。如果BRCA1或BRCA2本身因BRCA突變（英語：BRCA mutation）而受損，則受損的DNA無法正確修復，這會增加患乳腺癌的風險^[7]。BRCA1和BRCA2被描述為「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腫瘤抑制功能，而這些基因中的高滲透性突變會導致腫瘤抑制功能的喪失，這與患乳腺癌的風險增加相關^[8]。

BRCA2基因位於第十三號染色體的長q臂12.3位（13q12.3）^[9]。人類參考 BRCA 2 基因包含 27 個外顯子，該 cDNA 有 10,254 個鹼基對編碼 3418 個氨基酸的蛋白質。

參考文獻

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.

外部連結