RAD51D基因详情-基因数据库-基因云馆

RAD51D (RAD51 paralog D)

symbol:: RAD51D
locus group:: protein-coding gene
location:: 17q12
gene_family:
alias symbol:: R51H3|Trad|HsTRAD
alias name:: recombination repair protein|DNA...
entrez id:: 5892
ensembl gene id:: ENSG00000185379
ucsc gene id:: uc002hir.4
refseq accession:: NM_002878
hgnc_id:: HGNC:9823
approved reserved:: 1998-05-27

17q12

RAD51D是RAD51基因家族的重要成员之一，该家族主要负责DNA同源重组修复（HRR）过程，对维持基因组稳定性至关重要。RAD51D编码的蛋白质在DNA双链断裂修复中发挥核心作用，它与RAD51B、RAD51C等家族成员形成复合物，促进DNA链的配对和交换，确保损伤DNA的正确修复。RAD51基因家族的共性在于它们均参与同源重组修复通路，并在减数分裂和有丝分裂中维持染色体完整性。RAD51D的突变可能导致HRR功能缺陷，增加基因组不稳定性，进而与多种癌症（如乳腺癌、卵巢癌）的发生密切相关。研究表明，RAD51D突变携带者患遗传性乳腺癌和卵巢癌的风险显著升高。当RAD51D过表达时，可能增强DNA修复能力，但异常高表达也可能导致基因组过度重组，引发染色体异常。相反，RAD51D表达降低或功能缺失会削弱DNA修复效率，导致细胞对DNA损伤剂（如化疗药物）更敏感，但同时也增加癌症风险。RAD51D与其他HRR通路基因（如BRCA1/2）存在功能协同，其表达异常可能影响整个修复网络的平衡。此外，RAD51D在减数分裂中确保同源染色体的正确分离，其缺陷可能导致不育或发育异常。针对RAD51D功能的研究为癌症治疗提供了新靶点，例如通过抑制RAD51D来增强肿瘤细胞对放疗或PARP抑制剂的敏感性。

中文English

由该基因编码的蛋白质是RAD51蛋白家族的一个成员。 RAD51家族成员是高度相似的细菌的RecA和酿酒酵母的Rad51，已知是参与同源重组和DNA修复。这种蛋白与RAD51的家庭的几名其他成员，包括RAD51L1，RAD51L2和XRCC2复杂。与此蛋白质形成蛋白复合物已显示出催化单和双链DNA之间的同源配对，并且被认为是在DNA中的重组修复的早期阶段发挥作用。选择性剪接结果在多个抄本变形。通读转录还此基因和下游侧无名指和含有1（RFFL）基因FYVE样结构域之间存在。 [由RefSeq的，2011年1月提供]

OMIM数据库中对RAD51D基因的介绍 Wikipedia数据库中对RAD51D基因的介绍

RAD51D基因的碱基序列：[NCBI]

Loading Gene Browser...

蛋白质序列

1MGVLRVGLCP GLTEEMIQLL RSHRIKTVVD LVSADLEEVA
41QKCGLSYKAL VALRRVLLAQ FSAFPVNGAD LYEELKTSTA
81
ILSTGIGSL DKLLDAGLYT GEVTEIVGGP GSGKTQVCLC
121MAANVAHGLQ QNVLYVDSNG GLTASRLLQL LQAKTQDEEE
161Q
AEALRRIQ VVHAFDIFQM LDVLQELRGT VAQQVTGSSG
201TVKVVVVDSV TAVVSPLLGG QQREGLALMM QLARELKTLA
241RD
LGMAVVV TNHITRDRDS GRLKPALGRS WSFVPSTRIL
281LDTIEGAGAS GGRRMACLAK SSRQPTGFQE MVDIGTWGTS
321EQS
ATLQGD QT

结构预测来自 AlphaFold DB（UniProt: O75771），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

RAD51D基因的碱基突变：仅显示部分snp

rs1871892 rs11540072 rs28363253 rs28363254 rs28363255 rs28363256 rs74362545 rs76165674 rs112523851 rs114252524 rs114893073 rs149433213 rs149853642 rs150086168 rs150620282 rs182139866 rs187857016

RAD51D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

TTGTCTTACAAGGCCCTGG

60

AGTTCCTCGTAGAGATCAGC

59

GATGAGGAGGAACAGGCAG

60

CTTCACAGTTCCTGAAGAACC

59

AATACTCCATGGTGATGGC

57

CAAGCAGTTTATCAAGACATCC

58

CTTACAAGACATGGAGGGC

58

TTCTTCAGAGCATTCCTGAC

58

CTTGGCCTTGATGATGCAG

59

TATGTGGTTGGTCACCACC

60

AGGATCAAGACAGTGGTGG

59

TCAAGACTTGTAAGACAAGCC

58

CTTACAAGACATGGAGGGC

58

CTTCAGAGCATTCCTGACC

58

GTCTTACAAGGCAGAAGCT

58

TTCCTGAAGAACCAGTCAC

57

GATGAGGAGGAACAGGCAG

60

AGAGATAGCACCTAGAAAGCTG

60

TTGTCTTACAAGGCCCTGG

60

AGTTCCTCGTAGAGATCAGC

59

尚未收录相关数据

RAD51D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

RAD51D基因的本体（GO）信息：

GO库代码

对应的蛋白质

来源代码

GO:0003677

H0UID0 (UniProtKB)

IEA

GO:0005524

H0UID0 (UniProtKB)

IEA

GO:0005654

H0UID0 (UniProtKB)

IDA

GO:0006281

H0UID0 (UniProtKB)

IEA

GO:0008094

H0UID0 (UniProtKB)

IEA

GO:0003677

K7EMF1 (UniProtKB)

IEA

GO:0005524

K7EMF1 (UniProtKB)

IEA

GO:0006281

K7EMF1 (UniProtKB)

IEA

GO:0008094

K7EMF1 (UniProtKB)

IEA

GO:0003677

K7EN92 (UniProtKB)

IEA

GO:0005524

K7EN92 (UniProtKB)

IEA

GO:0006281

K7EN92 (UniProtKB)

IEA

GO:0008094

K7EN92 (UniProtKB)

IEA

GO:0003677

K7ESL4 (UniProtKB)

IEA

GO:0005524

K7ESL4 (UniProtKB)

IEA

GO:0006281

K7ESL4 (UniProtKB)

IEA

GO:0008094

K7ESL4 (UniProtKB)

IEA

GO:0000150

O75771 (UniProtKB)

IBA

GO:0000707

O75771 (UniProtKB)

IBA

GO:0000723

O75771 (UniProtKB)

IMP

GO:0000724

O75771 (UniProtKB)

IMP

GO:0000731

O75771 (UniProtKB)

TAS

GO:0000732

O75771 (UniProtKB)

TAS

GO:0000781

O75771 (UniProtKB)

IDA

GO:0000784

O75771 (UniProtKB)

IDA

GO:0003677

O75771 (UniProtKB)

TAS

GO:0003690

O75771 (UniProtKB)

IBA

GO:0003697

O75771 (UniProtKB)

IDA

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005515

O75771 (UniProtKB)

IPI

GO:0005524

O75771 (UniProtKB)

IEA

GO:0005634

O75771 (UniProtKB)

TAS

GO:0005654

O75771 (UniProtKB)

IDA

GO:0005654

O75771 (UniProtKB)

TAS

GO:0005654

O75771 (UniProtKB)

TAS

GO:0005654

O75771 (UniProtKB)

TAS

GO:0005654

O75771 (UniProtKB)

TAS

GO:0005654

O75771 (UniProtKB)

TAS

GO:0005654

O75771 (UniProtKB)

TAS

GO:0005654

O75771 (UniProtKB)

TAS

GO:0005654

O75771 (UniProtKB)

TAS

GO:0005654

O75771 (UniProtKB)

TAS

GO:0005654

O75771 (UniProtKB)

TAS

GO:0005654

O75771 (UniProtKB)

TAS

GO:0005654

O75771 (UniProtKB)

TAS

GO:0005657

O75771 (UniProtKB)

IDA

GO:0005737

O75771 (UniProtKB)

IEA

GO:0005813

O75771 (UniProtKB)

IDA

GO:0006281

O75771 (UniProtKB)

TAS

GO:0006289

O75771 (UniProtKB)

IEA

GO:0006312

O75771 (UniProtKB)

IBA

GO:0007131

O75771 (UniProtKB)

TAS

GO:0008094

O75771 (UniProtKB)

IDA

GO:0010212

O75771 (UniProtKB)

IBA

GO:0033063

O75771 (UniProtKB)

IDA

GO:0036297

O75771 (UniProtKB)

IEA

GO:0042148

O75771 (UniProtKB)

IDA

GO:0043015

O75771 (UniProtKB)

IDA

GO:0051726

O75771 (UniProtKB)

IEA

GO:0000400

O75771 (UniProtKB)

IDA

GO:0004520

O75771 (UniProtKB)

IBA

可能调控 RAD51D基因的相关microRNA：

hsa-miR-26b hsa-miR-324-5p hsa-miR-615-3p

String

BioGrid

IntAct

mentha

MINT

加载中…

关联基因	作用方式	资源库来源/分值

KEGG

名称
3440 Homologous recombination [PATH:hsa03440]

疾病名称

关系值

NofPmids

NofSnps

来源

疾病名称	关系值	NofPmids	NofSnps	来源
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4	0.12	0	0	CLINVAR
ovarian neoplasm	0.12	1	0	CTD_human
Hereditary Breast and Ovarian Cancer Syndrome	0.12	0	0	ORPHANET
Malignant neoplasm of breast	0.008729747	8	1	BeFree_GAD
Bloom Syndrome	0.00272435	1	0	LHGDN
Mammary Neoplasms	0.00272435	1	0	LHGDN
Ovarian Carcinoma	0.002714419	10	0	BeFree
Malignant neoplasm of ovary	0.002442977	9	0	BeFree
Multiple Sclerosis	0.002367032	1	0	GAD
Neoplasm Recurrence, Local	0.002367032	1	0	GAD

[Analysis of homologous recombination deficiency testing in ovarian cancer based on next-generation sequencing].

Li NM, Cheng HP, Zhou P, Li XH Zhonghua Zhong Liu Za Zhi 2026-07-23

Structural insight into how RAD51 paralog exchange regulates RAD51 filament formation.

Rawal Y, Kwon Y, Jia L, Ruben EA, Ji JH, Guo L, Stratton CM, Nayak D, Tovar M, Fang Q, Jamalruddin MA, Zhou S, Kuppa S, Syed S, Jasper AM, Katz JN, Rogers CM, Kaur H, Samentar L, Zhao W, Dray E, Zhang F, Stoilova-McPhie S, Taylor AB, Burma S, Rao MK, Libich DS, Hromas R, Mazin AV, Jasin M, Zhou D, Bernstein KA, Greene EC, Wasmuth EV, Sung P, Olsen SK Nat Struct Mol Biol IF: 0.000 2026-05-00

BCDX2-CX3 and DX2-CX3 complexes assemble and stabilize RAD51 filaments.

Koo CW, Xiao J, Coassolo S, Liu J, Yu C, Azumaya CM, Gore SK, Cheung TK, Brillantes B, Rose CM, Heyer WD, Ciferri C, Yatskevich S Nature IF: 56.1 2026-05-00

The Impact of Conventional Chemotherapy Regimens and Targeted Drugs on Ovarian Function in Breast Cancer Patients.

Haskoylu S, Sahin SB, Altıntas A, Yildiz S, Bildik G, Benlioglu C, Turan V, Kim S, Oktem O Reprod Sci IF: 2.8 2026-04-00

HRR gene promoter methylation-guided nomogram predicts PARP inhibitor efficacy and progression-free survival in high-grade serous ovarian cancer.

Zhou Z, Ge B, Chen T, Shen S, Tu N, Shen Y Clin Epigenetics IF: 4.987 2026-05-19

Risk-reducing gynecologic surgery in non-BRCA cancer predisposition mutations: a multi-institutional study.

Mubeen A, Dhall D, Sharma AE Int J Gynecol Cancer IF: 5.4 2026-08-07

Saturation Genome Editing reveals the functional impact of RAD51D and XRCC2 variants.

Casadei S, Snyder MW, Woo I, Smith N, Best S, Garge RK, Rodriguez-Salas L, Wenman C, Seid O, Hosokai A, Xu A, Tejura M, Gupta P, Heidl S, Muffley L, Ranchalis J, Stewart R, Goff NJ, Hemker SL, Baierl J, Dicks EM, Pharoah P, Bjornkjaer L, Roenlund K, Kitzman JO, Bernstein KA, Stergachis AB, Radivojac P, Fowler DM, Starita LM bioRxiv 2026-06-13

Frequency of germline pathogenic variants in breast cancer predisposing genes in a national cohort of young women with breast cancer.

Metcalfe K, Narod SA, Poll A, Hoey C, Warner E, Baxter NN, Isherwood S, MacDougall E, Zemani N, Yang F, Suwito JS, Quan ML, Akbari MR, RUBY Study Group Br J Cancer IF: 7.8 2026-06-23

Impact of germline RAD51D mutations on breast cancer: Susceptibility to DNA-damaging agents.

Jo S, Shim WC, Park S, Kweon T, Ryu WJ, Hwang Y, Kim MW, Ahn JH, Lee YJ, Lee SH, Won D, Nam EJ, Han JW, Kim TI, Park JS, Park HS Mol Ther Oncol 2026-06-18

Monoallelic germline RAD51C, RAD51D, and BRIP1 variants in hereditary cancer testing: Variant spectrum and clinical counselling implications.

Özdemir-Pehlivan Z, Büke A, Çevik-Demir E, Saat H, Bahsi T, Yıldırım ÖA, Erdem HB Mutat Res 2026-06-19

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RAD51D (RAD51 paralog D)

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

尚未收录相关数据

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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