RAD50 (RAD50 double strand break repair protein)

基因基本信息

基因基本信息

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

基因染色体位置

基因染色体位置

5q31.1
基因染色体位置图

基因简述

基因简述

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。

The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]

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

基因序列

基因序列

RAD50基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

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      

基因表达

基因表达

RAD50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
GCCAAATTGAAGATTGTACTGG
58
TGGGATCAAGTTCCTAAAGC
58
AACTTGACCAGGAGATGGA
58
TTTGTCAGCTTTGTCTTTGG
57
ATCATTGCCTTGGATGAGC
58
GGATGACCATTCAACCAGAG
58
TTGAACAGGGTCGTCTACAG
60
CTAGCTGTGTTGCCAAAGAC
60
CTTGACCAGGAGATGGAGC
60
AGTTCCTTGTTTGTCTTTGGTC
59
AAAGATGAGCATTCTGGGC
58
TCAATGATGGTCGTCTTTCC
58
ACTAAGTGAATGCGAGAAACAC
59
GCCACCTTTCTTGTATCTTCTG
59
ATGCCACCACTATCATGAG
57
ATCAATTATGCTTTGCCTGC
58
TTGAACAGGGTCGTCTACAG
60
CTAGCTGTGTTGCCAAAGAC
60
GACCTCAAAGAGCGTACCA
59
ACACCATAGATCTTTGCACAG
58

转录因子

转录因子

      尚未收录相关数据

基因本体信息

RAD50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

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

基因相关microRNA

基因相关microRNA

可能调控 RAD50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

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
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

基因相关服务

基因相关服务

联系方式

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