RUVBL2 (RuvB like AAA ATPase 2)

基因基本信息

基因基本信息

symbol:
RUVBL2
locus group:
protein-coding gene
location:
19q13.33
gene_family:
AAA ATPases (ATPases associated with diverse cellular activities)|INO80 complex subunits
alias symbol:
RVB2|TIP48|TIP49b|Reptin52|ECP51|TIH2|INO80J|Rvb2
alias name:
reptin|INO80 complex subunit J
entrez id:
10856
ensembl gene id:
ENSG00000183207
ucsc gene id:
uc002plr.2
refseq accession:
NM_001321190
hgnc_id:
HGNC:10475
approved reserved:
1999-09-07

基因染色体位置

基因染色体位置

19q13.33
基因染色体位置图

基因简述

基因简述

RUVBL2（也称为RUVB-like 2或TIP48）是一种高度保守的ATP依赖性解旋酶，属于AAA+（ATPases Associated with diverse cellular Activities）蛋白超家族。该基因编码的蛋白在多种细胞过程中发挥关键作用，包括染色质重塑、转录调控、DNA损伤修复和端粒维持。RUVBL2通常与RUVBL1（其家族成员）形成异源六聚体复合物，作为多种蛋白复合物（如INO80、SWR1和TIP60组蛋白乙酰转移酶复合物）的核心组成部分。这些复合物参与调控基因表达、染色质结构和基因组稳定性。RUVBL2的突变或表达异常可能导致其功能受损，进而影响细胞增殖、凋亡和DNA修复，与多种疾病相关，包括癌症（如乳腺癌、卵巢癌和白血病）、神经退行性疾病和发育障碍。RUVBL2过表达可能促进肿瘤发生，因其支持癌细胞的快速增殖和存活；而降低表达则可能导致基因组不稳定和细胞凋亡增加。RUVBL1和RUVBL2共同构成RUVBL基因家族，其成员具有相似的ATP酶活性和分子伴侣功能，参与大分子复合物的组装和调控。该家族蛋白在进化上高度保守，表明其功能的重要性。

This gene encodes the second human homologue of the bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. Functional analysis showed that this gene product has both ATPase and DNA helicase activities. This gene is physically linked to the CGB/LHB gene cluster on chromosome 19q13.3, and is very close (55 nt) to the LHB gene, in the opposite orientation. [provided by RefSeq, Jul 2008]

该基因编码的细菌RuvB基因的第二人类同源。细菌RuvB蛋白质是DNA解旋酶用于同源重组和DNA双链断裂修复是必不可少的。功能分析表明，该基因的产物既具有ATP酶和DNA解旋酶活性。这种基因是物理连接到染色体19q13.3的CGB / LHB基因簇，并且是非常接近（55 nt）的至LHB基因，在相反的方向。 [由RefSeq的，2008年7月提供]

OMIM数据库中对RUVBL2基因的介绍     Wikipedia数据库中对RUVBL2基因的介绍

基因序列

基因序列

RUVBL2基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

RUVBL2基因的碱基突变：           仅显示部分snp
rs2287753       rs2287754       rs2287755       rs2303049       rs3764616       rs3764617       rs3764618       rs3764619       rs3810176       rs3838924       rs16981031       rs74658507       rs76720422       rs76843656       rs78117628       rs78808523       rs79854126      

基因表达

基因表达

RUVBL2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
TTCGCATCAAGGAGGAGAC
60
TCGATCAATCTGGATCTCCA
58
TTCGCATCAAGGAGGAGAC
60
CTCTGTGGTCTTGAGGGTC
59
TTCGCATCAAGGAGGAGAC
60
CTGTGGTCTTGAGGGTCAG
60
TAACAAGGATTGAGCGAATCG
59
TACCACATCAGGAAGCTGC
60
CAACCGTTTATTTCACACGG
58
GTAATTGAGCAGGTGCCAG
59
ATTGAGCGAATCGAGATGGA
59
GAGGTCAGGAGATCGAGAC
59
TTCAACGAACTCAAAGGCG
59
GTGTCAGAACTCTGGTGGA
59
TTCGCATCAAGGAGGAGAC
60
CTCTGTGGTCTTGAGGGTC
59
ATCAAGTCAGAAGTCCGTGAG
60
TCGATGAACAGCACTCCAG
60
TTCAACGAACTCAAAGGCG
59
GTGTCAGAACTCTGGTGGA
59

转录因子

转录因子

      尚未收录相关数据

基因本体信息

RUVBL2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

RUVBL2基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005524
M0QXI6 (UniProtKB)
IEA
GO:0005634
M0QXI6 (UniProtKB)
IEA
GO:0006281
M0QXI6 (UniProtKB)
IEA
GO:0006310
M0QXI6 (UniProtKB)
IEA
GO:0006351
M0QXI6 (UniProtKB)
IEA
GO:0006355
M0QXI6 (UniProtKB)
IEA
GO:0032508
M0QXI6 (UniProtKB)
IEA
GO:0032508
M0QXI6 (UniProtKB)
IEA
GO:0043141
M0QXI6 (UniProtKB)
IEA
GO:0005524
M0R0Y3 (UniProtKB)
IEA
GO:0005654
M0R0Y3 (UniProtKB)
IDA
GO:0005737
M0R0Y3 (UniProtKB)
IDA
GO:0006281
M0R0Y3 (UniProtKB)
IEA
GO:0006310
M0R0Y3 (UniProtKB)
IEA
GO:0006351
M0R0Y3 (UniProtKB)
IEA
GO:0006355
M0R0Y3 (UniProtKB)
IEA
GO:0032508
M0R0Y3 (UniProtKB)
IEA
GO:0032508
M0R0Y3 (UniProtKB)
IEA
GO:0043141
M0R0Y3 (UniProtKB)
IEA
GO:0005524
M0R0Z0 (UniProtKB)
IEA
GO:0005634
M0R0Z0 (UniProtKB)
IEA
GO:0006281
M0R0Z0 (UniProtKB)
IEA
GO:0006310
M0R0Z0 (UniProtKB)
IEA
GO:0006351
M0R0Z0 (UniProtKB)
IEA
GO:0006355
M0R0Z0 (UniProtKB)
IEA
GO:0032508
M0R0Z0 (UniProtKB)
IEA
GO:0043141
M0R0Z0 (UniProtKB)
IEA
GO:0000812
Q9Y230 (UniProtKB)
IDA
GO:0000979
Q9Y230 (UniProtKB)
IDA
GO:0000980
Q9Y230 (UniProtKB)
IDA
GO:0001094
Q9Y230 (UniProtKB)
IEA
GO:0003678
Q9Y230 (UniProtKB)
IDA
GO:0004003
Q9Y230 (UniProtKB)
TAS
GO:0005515
Q9Y230 (UniProtKB)
IPI
GO:0005515
Q9Y230 (UniProtKB)
IPI
GO:0005515
Q9Y230 (UniProtKB)
IPI
GO:0005515
Q9Y230 (UniProtKB)
IPI
GO:0005515
Q9Y230 (UniProtKB)
IPI
GO:0005515
Q9Y230 (UniProtKB)
IPI
GO:0005515
Q9Y230 (UniProtKB)
IPI
GO:0005515
Q9Y230 (UniProtKB)
IPI
GO:0005515
Q9Y230 (UniProtKB)
IPI
GO:0005515
Q9Y230 (UniProtKB)
IPI
GO:0005515
Q9Y230 (UniProtKB)
IPI
GO:0005515
Q9Y230 (UniProtKB)
IPI
GO:0005515
Q9Y230 (UniProtKB)
IPI
GO:0005515
Q9Y230 (UniProtKB)
IPI
GO:0005524
Q9Y230 (UniProtKB)
IEA
GO:0005622
Q9Y230 (UniProtKB)
IDA
GO:0005634
Q9Y230 (UniProtKB)
IDA
GO:0005634
Q9Y230 (UniProtKB)
IDA
GO:0005654
Q9Y230 (UniProtKB)
IDA
GO:0005654
Q9Y230 (UniProtKB)
TAS
GO:0005719
Q9Y230 (UniProtKB)
IDA
GO:0005737
Q9Y230 (UniProtKB)
IDA
GO:0006281
Q9Y230 (UniProtKB)
IEA
GO:0006310
Q9Y230 (UniProtKB)
IEA
GO:0006338
Q9Y230 (UniProtKB)
IMP
GO:0006351
Q9Y230 (UniProtKB)
IEA
GO:0006457
Q9Y230 (UniProtKB)
TAS
GO:0016020
Q9Y230 (UniProtKB)
IEA
GO:0016363
Q9Y230 (UniProtKB)
IEA
GO:0030529
Q9Y230 (UniProtKB)
IEA
GO:0031011
Q9Y230 (UniProtKB)
IDA
GO:0031011
Q9Y230 (UniProtKB)
IDA
GO:0031490
Q9Y230 (UniProtKB)
IDA
GO:0032508
Q9Y230 (UniProtKB)
IEA
GO:0032508
Q9Y230 (UniProtKB)
IEA
GO:0032508
Q9Y230 (UniProtKB)
IEA
GO:0034644
Q9Y230 (UniProtKB)
IMP
GO:0035066
Q9Y230 (UniProtKB)
IMP
GO:0035267
Q9Y230 (UniProtKB)
IDA
GO:0035267
Q9Y230 (UniProtKB)
IDA
GO:0040008
Q9Y230 (UniProtKB)
IEA
GO:0042802
Q9Y230 (UniProtKB)
IDA
GO:0042802
Q9Y230 (UniProtKB)
IPI
GO:0042802
Q9Y230 (UniProtKB)
IPI
GO:0042803
Q9Y230 (UniProtKB)
IEA
GO:0043141
Q9Y230 (UniProtKB)
IEA
GO:0043531
Q9Y230 (UniProtKB)
IEA
GO:0043967
Q9Y230 (UniProtKB)
IDA
GO:0043968
Q9Y230 (UniProtKB)
IDA
GO:0045944
Q9Y230 (UniProtKB)
IMP
GO:0051082
Q9Y230 (UniProtKB)
TAS
GO:0051117
Q9Y230 (UniProtKB)
IEA
GO:0070062
Q9Y230 (UniProtKB)
IDA
GO:0070062
Q9Y230 (UniProtKB)
IDA
GO:0071169
Q9Y230 (UniProtKB)
IMP
GO:0071339
Q9Y230 (UniProtKB)
IDA
GO:0071392
Q9Y230 (UniProtKB)
IMP
GO:0071733
Q9Y230 (UniProtKB)
IMP
GO:0071899
Q9Y230 (UniProtKB)
IMP
GO:0097255
Q9Y230 (UniProtKB)
IDA
GO:1904874
Q9Y230 (UniProtKB)
IMP
GO:0016887
Q9Y230 (UniProtKB)
IDA
GO:0005524
X6R2L4 (UniProtKB)
IEA
GO:0005634
X6R2L4 (UniProtKB)
IEA
GO:0006281
X6R2L4 (UniProtKB)
IEA
GO:0006310
X6R2L4 (UniProtKB)
IEA
GO:0006351
X6R2L4 (UniProtKB)
IEA
GO:0006355
X6R2L4 (UniProtKB)
IEA
GO:0032508
X6R2L4 (UniProtKB)
IEA
GO:0032508
X6R2L4 (UniProtKB)
IEA
GO:0043141
X6R2L4 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 RUVBL2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
Cerebrovascular accident 0.004734064 2 0 GAD
Intracranial Hemorrhages 0.002367032 1 0 GAD
Subarachnoid Hemorrhage 0.002367032 1 0 GAD
Cerebral Hemorrhage 0.002367032 1 0 GAD
Brain Ischemia 0.002367032 1 0 GAD
Ischemic stroke 0.000542884 2 5 BeFree
Ischemic Cerebrovascular Accident 0.000542884 2 5 BeFree
Liver carcinoma 0.000542884 2 0 BeFree
Fanconi Anemia 0.000271442 1 0 BeFree
Hepatocarcinogenesis 0.000271442 1 0 BeFree

基因相关服务

基因相关服务

联系方式

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