RAD50基因详情-基因数据库-基因云馆

RAD50 (RAD50 double strand break repair protein)

symbol:: RAD50
locus group:: protein-coding gene
location:: 5q31.1
gene_family:
alias symbol:: hRad50|RAD50-2
alias name:: None
entrez id:: 10111
ensembl gene id:: ENSG00000113522
ucsc gene id:: uc003kxi.4
refseq accession:: NM_005732
hgnc_id:: HGNC:9816
approved reserved:: 1999-07-23

5q31.1

RAD50是MRE11-RAD50-NBS1（MRN）复合体的核心成员之一，属于DNA损伤修复基因家族。该基因家族主要负责维持基因组稳定性，参与DNA双链断裂（DSB）的识别、信号传导和修复。RAD50编码的蛋白质具有ATP酶活性，其结构包含两个卷曲螺旋结构域和一个中央的锌钩结构域，能够介导DNA末端的桥接和稳定。RAD50与MRE11和NBS1形成MRN复合物，共同在DNA损伤应答中发挥关键作用，包括同源重组（HR）和非同源末端连接（NHEJ）修复途径。突变或功能缺失的RAD50会导致DNA修复缺陷，增加基因组不稳定性，与多种疾病相关，如遗传性癌症易感综合征（如乳腺癌和卵巢癌）、共济失调毛细血管扩张症样障碍（ATLD）和Nijmegen断裂综合征。RAD50的过表达可能扰乱正常的DNA修复平衡，导致修复异常或基因组重排，而表达降低则会使细胞对DNA损伤剂敏感，增加突变积累和肿瘤发生风险。MRN复合物还参与端粒维持和减数分裂重组，因此RAD50功能异常可能影响生殖细胞发育和染色体稳定性。该基因家族（包括MRE11和NBS1）的共性在于它们共同协调DNA损伤感应、细胞周期检查点激活和修复机制，确保遗传信息的准确传递。研究RAD50有助于理解癌症、神经退行性疾病和免疫缺陷等疾病的分子机制，并为靶向治疗提供潜在策略。

中文English

由该基因编码的蛋白质是高度类似于酿酒酵母RAD50，参与DNA双链断裂修复的蛋白质。此蛋白与MRE11和NBS1的复合物。蛋白质复合物与DNA结合，并显示所必需的同源接合的DNA末端众多的酶活性。这种蛋白质，与合作伙伴的合作，是DNA双链断裂修复，细胞周期检查点激活，端粒维持和减数分裂重组的重要。小鼠同源物的基因敲除研究显示该基因是细胞生长和存活所必需的。在这个基因的突变是奈梅亨断裂综合征样病症的起因。[通过的RefSeq，2010年4月提供]

OMIM数据库中对RAD50基因的介绍 Wikipedia数据库中对RAD50基因的介绍

RAD50基因的碱基序列：[NCBI]

Loading Gene Browser...

蛋白质序列

1MSRIEKMSIL GVRSFGIEDK DKQIITFFSP LTILVGPNGA
41GKTTIIECLK YICTGDFPPG TKGNTFVHDP KVAQETDVRA
81
QIRLQFRDV NGELIAVQRS MVCTQKSKKT EFKTLEGVIT
121RTKHGEKVSL SSKCAEIDRE MISSLGVSKA VLNNVIFCHQ
161E
DSNWPLSE GKALKQKFDE IFSATRYIKA LETLRQVRQT
201QGQKVKEYQM ELKYLKQYKE KACEIRDQIT SKEAQLTSSK
241EI
VKSYENE LDPLKNRLKE IEHNLSKIMK LDNEIKALDS
281RKKQMEKDNS ELEEKMEKVF QGTDEQLNDL YHNHQRTVRE
321KER
KLVDCH RELEKLNKES RLLNQEKSEL LVEQGRLQLQ
361ADRHQEHIRA RDSLIQSLAT QLELDGFERG PFSERQIKNF
401HKLV
RERQE GEAKTANQLM NDFAEKETLK QKQIDEIRDK
441KTGLGRIIEL KSEILSKKQN ELKNVKYELQ QLEGSSDRIL
481ELDQE
LIKA ERELSKAEKN SNVETLKMEV ISLQNEKADL
521DRTLRKLDQE MEQLNHHTTT RTQMEMLTKD KADKDEQIRK
561IKSRHS
DEL TSLLGYFPNK KQLEDWLHSK SKEINQTRDR
601LAKLNKELAS SEQNKNHINN ELKRKEEQLS SYEDKLFDVC
641GSQDFES
DL DRLKEEIEKS SKQRAMLAGA TAVYSQFITQ
681LTDENQSCCP VCQRVFQTEA ELQEVISDLQ SKLRLAPDKL
721KSTESELK
K KEKRRDEMLG LVPMRQSIID LKEKEIPELR
761NKLQNVNRDI QRLKNDIEEQ ETLLGTIMPE EESAKVCLTD
801VTIMERFQM
 ELKDVERKIA QQAAKLQGID LDRTVQQVNQ
841EKQEKQHKLD TVSSKIELNR KLIQDQQEQI QHLKSTTNEL
881KSEKLQISTN 
LQRRQQLEE QTVELSTEVQ SLYREIKDAK
921EQVSPLETTL EKFQQEKEEL INKKNTSNKI AQDKLNDIKE
961KVKNIHGYMK D
IENYIQDG KDDYKKQKET ELNKVIAQLS
1001ECEKHKEKIN EDMRLMRQDI DTQKIQERWL QDNLTLRKRN
1041EELKEVEEER KQ
HLKEMGQ MQVLQMKSEH QKLEENIDNI
1081KRNHNLALGR QKGYEEEIIH FKKELREPQF RDAEEKYREM
1121MIVMRTTELV NKD
LDIYYK TLDQAIMKFH SMKMEEINKI
1161IRDLWRSTYR GQDIEYIEIR SDADENVSAS DKRRNYNYRV
1201VMLKGDTALD MRGR
CSAGQ KVLASLIIRL ALAETFCLNC
1241GIIALDEPTT NLDRENIESL AHALVEIIKS RSQQRNFQLL
1281VITHDEDFVE LLGRS
EYVE KFYRIKKNID QCSEIVKCSV
1321SSLGFNVH

结构预测来自 AlphaFold DB（UniProt: Q92878），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

RAD50基因的碱基突变：仅显示部分snp

rs2522404 rs2548985 rs2548986 rs2706335 rs3052196 rs4526098 rs11343726 rs35515008 rs36229533 rs62383708 rs73257757 rs73257758 rs75810325 rs75840815 rs78524273 rs80319396 rs111799791

RAD50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

GCCAAATTGAAGATTGTACTGG

TGGGATCAAGTTCCTAAAGC

AACTTGACCAGGAGATGGA

TTTGTCAGCTTTGTCTTTGG

ATCATTGCCTTGGATGAGC

GGATGACCATTCAACCAGAG

TTGAACAGGGTCGTCTACAG

CTAGCTGTGTTGCCAAAGAC

CTTGACCAGGAGATGGAGC

AGTTCCTTGTTTGTCTTTGGTC

AAAGATGAGCATTCTGGGC

TCAATGATGGTCGTCTTTCC

ACTAAGTGAATGCGAGAAACAC

GCCACCTTTCTTGTATCTTCTG

ATGCCACCACTATCATGAG

ATCAATTATGCTTTGCCTGC

TTGAACAGGGTCGTCTACAG

CTAGCTGTGTTGCCAAAGAC

GACCTCAAAGAGCGTACCA

ACACCATAGATCTTTGCACAG

尚未收录相关数据

RAD50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

RAD50基因的本体（GO）信息：

GO库代码

对应的蛋白质

来源代码

GO:0000723

C9JNH8 (UniProtKB)

IEA

GO:0006281

C9JNH8 (UniProtKB)

IEA

GO:0016887

C9JNH8 (UniProtKB)

IEA

GO:0030870

C9JNH8 (UniProtKB)

IEA

GO:0000723

E7EN38 (UniProtKB)

IEA

GO:0006281

E7EN38 (UniProtKB)

IEA

GO:0016887

E7EN38 (UniProtKB)

IEA

GO:0030870

E7EN38 (UniProtKB)

IEA

GO:0000723

E7ESD9 (UniProtKB)

IEA

GO:0006281

E7ESD9 (UniProtKB)

IEA

GO:0016887

E7ESD9 (UniProtKB)

IEA

GO:0030870

E7ESD9 (UniProtKB)

IEA

GO:0000723

E9PM98 (UniProtKB)

IEA

GO:0006281

E9PM98 (UniProtKB)

IEA

GO:0016887

E9PM98 (UniProtKB)

IEA

GO:0030870

E9PM98 (UniProtKB)

IEA

GO:0000723

H7C0P8 (UniProtKB)

IEA

GO:0006281

H7C0P8 (UniProtKB)

IEA

GO:0016887

H7C0P8 (UniProtKB)

IEA

GO:0030870

H7C0P8 (UniProtKB)

IEA

GO:0000723

H7C0V2 (UniProtKB)

IEA

GO:0006281

H7C0V2 (UniProtKB)

IEA

GO:0016887

H7C0V2 (UniProtKB)

IEA

GO:0030870

H7C0V2 (UniProtKB)

IEA

GO:0000019

Q92878 (UniProtKB)

IDA

GO:0000722

Q92878 (UniProtKB)

IBA

GO:0000723

Q92878 (UniProtKB)

TAS

GO:0000724

Q92878 (UniProtKB)

IBA

GO:0000724

Q92878 (UniProtKB)

TAS

GO:0000729

Q92878 (UniProtKB)

TAS

GO:0000731

Q92878 (UniProtKB)

TAS

GO:0000732

Q92878 (UniProtKB)

TAS

GO:0000784

Q92878 (UniProtKB)

IDA

GO:0000784

Q92878 (UniProtKB)

IDA

GO:0000790

Q92878 (UniProtKB)

IBA

GO:0000794

Q92878 (UniProtKB)

IBA

GO:0003677

Q92878 (UniProtKB)

IDA

GO:0003691

Q92878 (UniProtKB)

IBA

GO:0004017

Q92878 (UniProtKB)

IBA

GO:0005515

Q92878 (UniProtKB)

IPI

GO:0005515

Q92878 (UniProtKB)

IPI

GO:0005515

Q92878 (UniProtKB)

IPI

GO:0005515

Q92878 (UniProtKB)

IPI

GO:0005515

Q92878 (UniProtKB)

IPI

GO:0005524

Q92878 (UniProtKB)

IEA

GO:0005654

Q92878 (UniProtKB)

IDA

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0005654

Q92878 (UniProtKB)

TAS

GO:0006260

Q92878 (UniProtKB)

TAS

GO:0006260

Q92878 (UniProtKB)

TAS

GO:0006281

Q92878 (UniProtKB)

IDA

GO:0006302

Q92878 (UniProtKB)

IMP

GO:0006303

Q92878 (UniProtKB)

TAS

GO:0006310

Q92878 (UniProtKB)

IDA

GO:0006974

Q92878 (UniProtKB)

IDA

GO:0007004

Q92878 (UniProtKB)

IDA

GO:0007131

Q92878 (UniProtKB)

TAS

GO:0016020

Q92878 (UniProtKB)

IDA

GO:0016032

Q92878 (UniProtKB)

IEA

GO:0030674

Q92878 (UniProtKB)

IDA

GO:0030870

Q92878 (UniProtKB)

IDA

GO:0030870

Q92878 (UniProtKB)

IDA

GO:0031860

Q92878 (UniProtKB)

IMP

GO:0031954

Q92878 (UniProtKB)

IDA

GO:0032206

Q92878 (UniProtKB)

IMP

GO:0032508

Q92878 (UniProtKB)

IMP

GO:0033674

Q92878 (UniProtKB)

IDA

GO:0035861

Q92878 (UniProtKB)

IDA

GO:0043047

Q92878 (UniProtKB)

IBA

GO:0046872

Q92878 (UniProtKB)

IEA

GO:0046939

Q92878 (UniProtKB)

IEA

GO:0051880

Q92878 (UniProtKB)

IBA

GO:0070192

Q92878 (UniProtKB)

IBA

GO:0090305

Q92878 (UniProtKB)

IEA

GO:1901796

Q92878 (UniProtKB)

TAS

GO:1904354

Q92878 (UniProtKB)

IDA

GO:0000784

Q92878 (UniProtKB)

IDA

GO:0000014

Q92878 (UniProtKB)

IDA

GO:0004003

Q92878 (UniProtKB)

IMP

GO:0008408

Q92878 (UniProtKB)

IDA

可能调控 RAD50基因的相关microRNA：

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]
3450 Non-homologous end-joining [PATH:hsa03450]

名称
Assembly of the RAD50-MRE11-NBS1 complex at DNA double-strand breaks
Cell Cycle
Cellular responses to stress
Cellular Senescence
DNA Damage/Telomere Stress Induced Senescence
DNA Repair
Double-Strand Break Repair
Homologous Recombination Repair
Homologous recombination repair of replication-independent double-strand breaks
Meiosis
Meiotic recombination
MRN complex relocalizes to nuclear foci
Recruitment of repair and signaling proteins to double-strand breaks

疾病名称

关系值

NofPmids

NofSnps

来源

疾病名称	关系值	NofPmids	NofSnps	来源
Nijmegen Breakage Syndrome-Like Disorder	0.36	0	2	CLINVAR_CTD_human_ORPHANET
Asthma	0.246362715	7	2	BeFree_CTD_human_GAD_GWASCAT
Inflammatory dermatosis	0.12	1	1	GWASCAT
Neoplastic Syndromes, Hereditary	0.12	0	39	CLINVAR
Hereditary Breast and Ovarian Cancer Syndrome	0.12	0	0	ORPHANET
Liver Cirrhosis	0.08	1	0	RGD
Myocardial Infarction	0.08	1	0	RGD
Malignant neoplasm of breast	0.024017707	17	0	BeFree_GAD
Lymphoma, Non-Hodgkin	0.007372538	3	0	BeFree_GAD
Mammary Neoplasms	0.005720142	3	0	BeFree_LHGDN

Age-Associated Genetic Variations in Breast Cancer: Somatic Mutations and Co-Mutations.

Ekinci B, Orenay-Boyacioglu S, Erdogdu IH, Boyacioglu O, Cirak-Balta M, Kahraman-Cetin N, Meteoglu I Biomedicines 2026-02-25

STK11 and DNA Repair Gene Mutations Define Hereditary Subset of Middle Eastern Papillary Thyroid Cancer.

Bu R, Haqawi W, Razzaq EAA, Azam S, Iqbal K, Qadri Z, Parvathareddy SK, Alrasheed M, Alobaisi K, Al-Dayel F, Siraj AK, Al-Kuraya KS Int J Mol Sci IF: 3.226 2026-03-14

Assessment of Homologous Recombination System Gene Expression in Chemologically Induced Carcinogenesis In Vivo Models.

Tsyganov MM, Bulatova DZ, Fedorenko AA, Loos DM, Nikiforov PE, Tsydenova IA, Bayanbayeva AA, Sharipkhanova Z, Timoshenko SS, Ibragimova MK Curr Issues Mol Biol IF: 4.1 2026-03-04

Developmental stage dominates cell-type identity and reveals a chromatin regulatory function for Rad50 in Drosophila.

Boutet T, Sakr R, Marzullo M, Goyal M, Cattenoz PB, Ciapponi L, Mukherjee T, Giangrande A Nucleic Acids Res IF: 15.0 2026-04-13

MRE11 proximal polyadenylation site-mediated looping impacts transcription and genomic stability.

Huang K, Brault ME, Cong K, Azazmeh N, Collins S, Lee S, Lantz GA, Raskind G, Legube G, Beroukhim R, Chowdhury D Mol Cell IF: 16.0 2026-05-21

Phosphorylation of RBM39 by CDK13 stabilizes RAD50 mRNA to drive cisplatin resistance in endometrial cancer.

Yang C, Zheng X, Sun H, Du J, Luo Y, Wang C, Wu Y, Qu L, Yuan F, Yang Z J Biol Chem 2026-06-00

MiR-142-3p promotes radioresistance by targeting FOXO4 in colorectal cancer.

Wang X, Hua WX, Liu Y, Li HD Biol Direct IF: 2.856 2026-04-03

Generation of NBS1 knockout in Chinese hamster cells revealed ATR role for radiation and etoposide induced DNA damage in absence of NBS1 proteins.

Badakul G, Maeda J, Kato TA Front Oncol IF: 3.4 None

Deciphering novel genotypic biomarkers and functional alterations in double strand break repair pathways for Parkinson's disease.

Chen CH, Tsai CW, Chang WS, Lu MK, Cho DY, Bau DT Sci Rep IF: 4.9 2026-03-11

Molecular analysis of somatic mutations at the HPRT locus in lymphocytes of human population exposed to chronic high background natural radiation.

Gopinathan A, Jain V, Sharma D, Kumar PRV Sci Rep IF: 4.9 2026-03-16

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RAD50 (RAD50 double strand break repair protein)

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

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