BRCA2基因详情-基因数据库-基因云馆

BRCA2 (BRCA2 DNA repair associated)

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, ...
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

13q13.1

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。

中文English

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

BRCA2基因的碱基序列：[NCBI]

Loading Gene Browser...

蛋白质序列

1MPIGSKERPT FFEIFKTRCN KADLGPISLN WFEELSSEAP
41PYNSEPAEES EHKNNNYEPN LFKTPQRKPS YNQLASTPII
81
FKEQGLTLP LYQSPVKELD KFKLDLGRNV PNSRHKSLRT
121VKTKMDQADD VSCPLLNSCL SESPVVLQCT HVTPQRDKSV
161V
CGSLFHTP KFVKGRQTPK HISESLGAEV DPDMSWSSSL
201ATPPTLSSTV LIVRNEEASE TVFPHDTTAN VKSYFSNHDE
241SL
KKNDRFI ASVTDSENTN QREAASHGFG KTSGNSFKVN
281SCKDHIGKSM PNVLEDEVYE TVVDTSEEDS FSLCFSKCRT
321KNL
QKVRTS KTRKKIFHEA NADECEKSKN QVKEKYSFVS
361EVEPNDTDPL DSNVANQKPF ESGSDKISKE VVPSLACEWS
401QLTL
SGLNG AQMEKIPLLH ISSCDQNISE KDLLDTENKR
441KKDFLTSENS LPRISSLPKS EKPLNEETVV NKRDEEQHLE
481SHTDC
ILAV KQAISGTSPV ASSFQGIKKS IFRIRESPKE
521TFNASFSGHM TDPNFKKETE ASESGLEIHT VCSQKEDSLC
561PNLIDN
GSW PATTTQNSVA LKNAGLISTL KKKTNKFIYA
601IHDETSYKGK KIPKDQKSEL INCSAQFEAN AFEAPLTFAN
641ADSGLLH
SS VKRSCSQNDS EEPTLSLTSS FGTILRKCSR
681NETCSNNTVI SQDLDYKEAK CNKEKLQLFI TPEADSLSCL
721QEGQCEND
P KSKKVSDIKE EVLAAACHPV QHSKVEYSDT
761DFQSQKSLLY DHENASTLIL TPTSKDVLSN LVMISRGKES
801YKMSDKLKG
 NNYESDVELT KNIPMEKNQD VCALNENYKN
841VELLPPEKYM RVASPSRKVQ FNQNTNLRVI QKNQEETTSI
881SKITVNPDSE 
ELFSDNENN FVFQVANERN NLALGNTKEL
921HETDLTCVNE PIFKNSTMVL YGDTGDKQAT QVSIKKDLVY
961VLAEENKNSV K
QHIKMTLG QDLKSDISLN IDKIPEKNND
1001YMNKWAGLLG PISNHSFGGS FRTASNKEIK LSEHNIKKSK
1041MFFKDIEEQY PT
SLACVEI VNTLALDNQK KLSKPQSINT
1081VSAHLQSSVV VSDCKNSHIT PQMLFSKQDF NSNHNLTPSQ
1121KAEITELSTI LEE
SGSQFE FTQFRKPSYI LQKSTFEVPE
1161NQMTILKTTS EECRDADLHV IMNAPSIGQV DSSKQFEGTV
1201EIKRKFAGLL KNDC
NKSAS GYLTDENEVG FRGFYSAHGT
1241KLNVSTEALQ KAVKLFSDIE NISEETSAEV HPISLSSSKC
1281HDSVVSMFKI ENHND
KTVS EKNNKCQLIL QNNIEMTTGT
1321FVEEITENYK RNTENEDNKY TAASRNSHNL EFDGSDSSKN
1361DTVCIHKDET DLLFTD
QHN ICLKLSGQFM KEGNTQIKED
1401LSDLTFLEVA KAQEACH

结构预测来自 AlphaFold DB（UniProt: P51587），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

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

BRCA2基因在不同组织中的表达： [UniProt]

正向引物序列

正向Tm值

反向引物序列

反向Tm值

评分

AAAGTTTGTGAAGGGTCGTC

GACCAAGACATATCAGGATCCA

TTATCAAGGGATGTCACAACC

CGCCAAATACTCAGTATAACTG

CAACTAAAGACTGTACTTCAGGG

TAGGAGAAGACATCAGAAGCT

TGGAGCGGACTTATTTACCA

AGAATTATAGGGTGGAGCTTCTG

CAACAAAGCAGATTTAGGACC

GGTTCAGAATTATAGGGTGGAG

TTATCAAGGGATGTCACAACC

CGCCAAATACTCAGTATAACTG

AACATGAAGTTACTTCCTCCAC

TCCAACCCTCATGGATGAC

TCAACAACTACCGGTTTCAG

AAGATGGCTGAAAGTCTGG

ATCAACAACTACCGGTTTCAG

AGATGGCTGAAAGTCTGGA

CCAACTAAAGACTGTACTTCAGG

AGGAGAAGACATCAGAAGCT

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

BRCA2基因（以及对应的蛋白质）的细胞分布位置：

[UniProt] [GenomeNet]

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

可能调控 BRCA2基因的相关microRNA：

hsa-miR-122 hsa-miR-128 hsa-miR-192 hsa-let-7a hsa-let-7b hsa-let-7b* hsa-let-7c hsa-let-7c* hsa-let-7d hsa-let-7d*

String

BioGrid

IntAct

mentha

MINT

Reactome

加载中…

关联基因	作用方式	资源库来源/分值

KEGG
Reactomepathway

名称
3440 Homologous recombination [PATH:hsa03440]
3460 Fanconi anemia pathway [PATH:hsa03460]
5200 Pathways in cancer [PATH:hsa05200]
5212 Pancreatic cancer [PATH:hsa05212]

名称
Cell Cycle
DNA Repair
Double-Strand Break Repair
Fanconi Anemia pathway
Homologous DNA pairing and strand exchange
Homologous Recombination Repair
Homologous recombination repair of replication-independent double-strand breaks
Meiosis
Meiotic recombination
Presynaptic phase of homologous DNA pairing and strand exchange

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

RAD51 succinylation regulates homologous recombination and contributes to the chemosensitivity in cancer.

Wang Z, Jin M, Zhai L, Huang B, Jin X, Wang X, Boudemia AE, Yang X, Wei Z, He Y, Yang J, Li Y, Ding X, Li R, Zhou X, Zheng W, Ouyang Y, Wang Q, Song Y, Zeng Z, Li Y, Lu L, Liu J, Li Y, Li L, Li K, Chen CL, Lou Z, Tan M, Wu J, Chen Y, Yuan J Mol Cell IF: 16.0 2026-02-19

Correlation of BRCA and homologous recombination deficiency status with clinical and survival outcomes in patients with advanced-stage ovarian cancer undergoing frontline therapy.

Sims TT, Sood AK, Westin SN, Rangel K, Fleming ND Int J Gynecol Cancer IF: 5.4 2026-07-00

Research Progress on BRCA1/2 Mutations in Sporadic Gastric Cancer: Risk Stratification, Surgical Prognosis, and Individualized Treatment.

Chen M, Dong Y, Wang R, Cui H Ann Ital Chir IF: 0.8 2026-02-09

The Contribution of Genetic Modifiers to Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.

Cylwik D, Dwornik R, Białkowska K Cancers (Basel) 2026-01-23

Frequency of Founder Mutations in BRCA1 and BRCA2 Genes in Hereditary Breast Cancers in Poland vs. Other Countries.

Kulikowska B, Panasiuk B, Posmyk R Cancers (Basel) 2026-02-02

Case Report: Individualized circulating tumor DNA monitoring guides olaparib adjuvant therapy: an early-stage breast cancer case with somatic BRCA2 mutation.

You Q, Gong L, Chen Y, Dinglin X, Cheng Z, Xia Q, Xie J, Zhao J, Su F Front Oncol IF: 3.4 None

The RRM domains of PARP14 mediate replication fork degradation in BRCA2-deficient cells.

Hale A, Lynch KA, Dhoonmoon A, Nicolae CM, Moldovan GL NAR Cancer IF: 4.6 2026-03-00

Genetic cancer risk knowledge among Mexican pathogenic variant carriers.

Aranda-Gutierrez A, Villarreal-Garza C, Aguilar-Y-Mendez D, Gonzalez-Santiesteban S, Rodríguez-Olivares JL, Mesa-Chavez F, Becerril-Gaitan A, Vaca-Cartagena BF, Lagunas-Medina A, Lagarde-Santillán LK, Rodríguez-Faure A, Obregon-Leal D, Carrillo-Bedoya A, Quintero-Beuló G, Ochoa-Chavez MF, Miaja M, Weitzel JN, Chavarri-Guerra Y Patient Educ Couns IF: 3.1 2026-06-00

[Clinical and pathological characteristics and prognostic analysis of colorectal cancer associated with breast cancer susceptibility gene mutations].

Liu J, Zhang X, Lu HX, Li XY, Guo YH, Zhong JN, Guo JH, Yan WX, Zan LK Zhonghua Zhong Liu Za Zhi 2026-02-23

Breast cancer surgery in the era of genetic uncertainty: real-world outcomes in BRCA1/2 pathogenic variants and variants of uncertain significance.

Ökten IN, Baydaş T, Koca S, Baltacı MF, Özen F, Çil İ, Eser M, Gündoğdu A, Aktaş M, Yılmaz OC BMC Cancer IF: 3.288 2026-02-13

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BRCA2 (BRCA2 DNA repair associated)

基因基本信息

基因基本信息

基因染色体位置

基因染色体位置

基因简述

基因简述

基因序列

基因序列

编码蛋白质

编码蛋白质

基因突变

基因突变

基因表达

基因表达

基因引物

基因引物

转录因子

转录因子

基因本体信息

基因相关microRNA

基因相关microRNA

基因相互作用关系

基因相互作用关系

基因通路

基因通路

基因相关疾病

基因相关疾病

基因相关文献

基因相关文献

基因相关服务

基因相关服务

基因相关评论

基因相关评论

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