BRCA2 (BRCA2 DNA repair associated)

基因基本信息

基因基本信息

symbol:
BRCA2
locus group:
protein-coding gene
location:
13q13.1
gene_family:
Fanconi anemia, complementation groups
alias symbol:
FAD|FAD1|BRCC2|XRCC11
alias name:
BRCA1/BRCA2-containing complex, su…
entrez id:
675
ensembl gene id:
ENSG00000139618
ucsc gene id:
uc001uub.2
refseq accession:
NM_000059
hgnc_id:
HGNC:1101
approved reserved:
1994-10-17

基因染色体位置

基因染色体位置

13q13.1
基因染色体位置图

基因简述

基因简述

BRCA2（乳腺癌易感基因2，Breast Cancer Susceptibility Gene 2）是一种重要的抑癌基因，属于DNA损伤修复基因家族，与同家族的BRCA1共同参与维持基因组稳定性。该基因编码的蛋白质主要功能是通过同源重组修复（Homologous Recombination Repair, HRR）机制修复DNA双链断裂，这是一种高保真度的修复方式，能准确修复受损DNA。BRCA2蛋白通过与RAD51重组酶结合，帮助其定位到DNA损伤位点，促进修复过程。该基因在乳腺、卵巢等组织中高表达，其正常功能对防止细胞异常增殖至关重要。当BRCA2发生有害突变（如移码突变或无义突变）时，会导致蛋白质功能丧失，使细胞无法有效修复DNA损伤，从而增加基因组不稳定性，显著提高乳腺癌、卵巢癌、前列腺癌等多种癌症的发病风险，这类遗传性癌症综合征称为遗传性乳腺癌-卵巢癌综合征（HBOC）。BRCA2突变携带者一生中患乳腺癌的风险高达45-70%，卵巢癌风险约10-30%。值得注意的是，BRCA2突变对PARP抑制剂（如奥拉帕尼）治疗敏感，这是基于"合成致死"原理的靶向疗法。若该基因过表达，可能增强DNA修复能力但可能干扰正常细胞周期调控；而表达降低则直接导致修复缺陷，诱发癌症。BRCA2所属的DNA损伤修复基因家族还包括BRCA1、PALB2等，这些基因均通过不同途径参与维护基因组完整性，其突变都会导致类似的癌症易感性。目前针对BRCA2的基因检测已成为癌症风险评估和个性化治疗的重要依据，特别是在家族性癌症病例中具有关键指导价值。

Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, Dec 2008]

BRCA1和该基因，BRCA2遗传突变，赋予增加的发展乳腺癌或卵巢癌的终生风险。无论BRCA1和BRCA2参与维护稳定的基因组中，专门为双链DNA修复的同源重组途径。该BRCA2蛋白含有称为BRC图案70 AA主题的多个副本，而这些图案调解绑定到RAD51重组其功能DNA修复。 BRCA2被认为是一种肿瘤抑制基因，与BRCA2基因突变的肿瘤通常表现出野生型等位基因的杂合的损失。 [由RefSeq的，2008年12月提供]

OMIM数据库中对BRCA2基因的介绍     Wikipedia数据库中对BRCA2基因的介绍

基因序列

基因序列

BRCA2基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

BRCA2基因的碱基突变：           仅显示部分snp
rs15869       rs144848       rs169546       rs169547       rs169548       rs176176       rs188208       rs206067       rs206068       rs206069       rs206070       rs206071       rs206073       rs206074       rs206075       rs206076       rs206077      

基因表达

基因表达

BRCA2基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
AAAGTTTGTGAAGGGTCGTC
59
GACCAAGACATATCAGGATCCA
60
TTATCAAGGGATGTCACAACC
58
CGCCAAATACTCAGTATAACTG
57
CAACTAAAGACTGTACTTCAGGG
59
TAGGAGAAGACATCAGAAGCT
58
TGGAGCGGACTTATTTACCA
59
AGAATTATAGGGTGGAGCTTCTG
60
CAACAAAGCAGATTTAGGACC
58
GGTTCAGAATTATAGGGTGGAG
58
TTATCAAGGGATGTCACAACC
58
CGCCAAATACTCAGTATAACTG
57
AACATGAAGTTACTTCCTCCAC
58
TCCAACCCTCATGGATGAC
59
TCAACAACTACCGGTTTCAG
58
AAGATGGCTGAAAGTCTGG
57
ATCAACAACTACCGGTTTCAG
59
AGATGGCTGAAAGTCTGGA
58
CCAACTAAAGACTGTACTTCAGG
59
AGGAGAAGACATCAGAAGCT
58

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
BRCA1
BRCA2
Unknown
11405179
BRCA2
DMC1
Unknown
17541404
BRCA2
PSMD3
Unknown
17563742
BRCA2
PSMD6
Unknown
17563742
BRCA2
RAD51
Unknown
12967658; 17515904; 19628690; 20729859
CTBP1
BRCA2
Repression
18765668
ELF1
BRCA2
Unknown
10557089
ESR2
BRCA2
Repression
18765668
HDAC1
BRCA2
Repression
18765668
HMG20B
BRCA2
Unknown
21399666

基因本体信息

BRCA2基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

BRCA2基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000724
H0YE37 (UniProtKB)
IEA
GO:0000722
P51587 (UniProtKB)
IEA
GO:0000724
P51587 (UniProtKB)
IDA
GO:0000724
P51587 (UniProtKB)
IMP
GO:0000731
P51587 (UniProtKB)
TAS
GO:0000732
P51587 (UniProtKB)
TAS
GO:0000784
P51587 (UniProtKB)
IDA
GO:0000910
P51587 (UniProtKB)
IDA
GO:0001556
P51587 (UniProtKB)
IEA
GO:0001833
P51587 (UniProtKB)
IEA
GO:0002020
P51587 (UniProtKB)
IPI
GO:0003697
P51587 (UniProtKB)
IDA
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005515
P51587 (UniProtKB)
IPI
GO:0005634
P51587 (UniProtKB)
IDA
GO:0005634
P51587 (UniProtKB)
IDA
GO:0005634
P51587 (UniProtKB)
IDA
GO:0005634
P51587 (UniProtKB)
IDA
GO:0005654
P51587 (UniProtKB)
IDA
GO:0005654
P51587 (UniProtKB)
TAS
GO:0005654
P51587 (UniProtKB)
TAS
GO:0005654
P51587 (UniProtKB)
TAS
GO:0005654
P51587 (UniProtKB)
TAS
GO:0005654
P51587 (UniProtKB)
TAS
GO:0005654
P51587 (UniProtKB)
TAS
GO:0005654
P51587 (UniProtKB)
TAS
GO:0005654
P51587 (UniProtKB)
TAS
GO:0005654
P51587 (UniProtKB)
TAS
GO:0005654
P51587 (UniProtKB)
TAS
GO:0005654
P51587 (UniProtKB)
TAS
GO:0005654
P51587 (UniProtKB)
TAS
GO:0005654
P51587 (UniProtKB)
TAS
GO:0005737
P51587 (UniProtKB)
IDA
GO:0005813
P51587 (UniProtKB)
IDA
GO:0005813
P51587 (UniProtKB)
IDA
GO:0006289
P51587 (UniProtKB)
IMP
GO:0006302
P51587 (UniProtKB)
IMP
GO:0006978
P51587 (UniProtKB)
IEA
GO:0007141
P51587 (UniProtKB)
IEA
GO:0007283
P51587 (UniProtKB)
IEA
GO:0007283
P51587 (UniProtKB)
IEA
GO:0007420
P51587 (UniProtKB)
IEA
GO:0007569
P51587 (UniProtKB)
IEA
GO:0007584
P51587 (UniProtKB)
IEA
GO:0008585
P51587 (UniProtKB)
IEA
GO:0010165
P51587 (UniProtKB)
IEA
GO:0010225
P51587 (UniProtKB)
IEA
GO:0010332
P51587 (UniProtKB)
IEA
GO:0010484
P51587 (UniProtKB)
IDA
GO:0010485
P51587 (UniProtKB)
IDA
GO:0030097
P51587 (UniProtKB)
IEA
GO:0030141
P51587 (UniProtKB)
IDA
GO:0030879
P51587 (UniProtKB)
IEA
GO:0031052
P51587 (UniProtKB)
IEA
GO:0031619
P51587 (UniProtKB)
IEA
GO:0032355
P51587 (UniProtKB)
IEA
GO:0032465
P51587 (UniProtKB)
IEA
GO:0033593
P51587 (UniProtKB)
IDA
GO:0033600
P51587 (UniProtKB)
IDA
GO:0035264
P51587 (UniProtKB)
IEA
GO:0042771
P51587 (UniProtKB)
IEA
GO:0043015
P51587 (UniProtKB)
IPI
GO:0043234
P51587 (UniProtKB)
IDA
GO:0043966
P51587 (UniProtKB)
IDA
GO:0043967
P51587 (UniProtKB)
IDA
GO:0045893
P51587 (UniProtKB)
IDA
GO:0045931
P51587 (UniProtKB)
IEA
GO:0048478
P51587 (UniProtKB)
IEA
GO:0051298
P51587 (UniProtKB)
IMP
GO:0070200
P51587 (UniProtKB)
IDA
GO:1990426
P51587 (UniProtKB)
IMP
GO:0004402
P51587 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 BRCA2基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 0.560271442 3 11 BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT
Malignant neoplasm of breast 0.48 1358 46 BeFree_GAD_GWASCAT_MGD_UNIPROT
Hereditary Breast and Ovarian Cancer Syndrome 0.391215815 115 120 BeFree_CLINVAR_CTD_human_ORPHANET
ovarian neoplasm 0.363257302 118 0 BeFree_CTD_human_GAD_LHGDN_RGD
Mammary Neoplasms 0.302258234 226 0 BeFree_CTD_human_GAD_LHGDN
Malignant neoplasm of ovary 0.28 818 15 BeFree_CLINVAR_GAD
Fanconi Anemia 0.267359547 74 2 BeFree_CTD_human_GAD_LHGDN_ORPHANET
Medulloblastoma 0.240814326 3 3 BeFree_CLINVAR_CTD_human
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 0.24 0 985 CLINVAR_CTD_human
Prostatic Neoplasms 0.216088472 10 0 BeFree_CTD_human_GAD_LHGDN_RGD

基因相关服务

基因相关服务

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