RNF8 (ring finger protein 8)

基因基本信息

基因基本信息

symbol:
RNF8
locus group:
protein-coding gene
location:
6p21.2
gene_family:
Ring finger proteins
alias symbol:
KIAA0646
alias name:
None
entrez id:
9025
ensembl gene id:
ENSG00000112130
ucsc gene id:
uc003onq.4
refseq accession:
NM_003958
hgnc_id:
HGNC:10071
approved reserved:
1999-09-29

基因染色体位置

基因染色体位置

6p21.2
基因染色体位置图

基因简述

基因简述

RNF8（Ring Finger Protein 8）是一种E3泛素连接酶，属于RING（Really Interesting New Gene）指蛋白家族。该家族成员通常具有RING结构域，能够介导泛素化修饰（一种蛋白质翻译后修饰，通过添加泛素分子标记目标蛋白，影响其稳定性、定位或功能）。RNF8在DNA损伤修复中起核心作用，主要定位于细胞核，通过招募DNA修复蛋白（如53BP1和BRCA1）至双链断裂（DSB）位点，促进同源重组（HR）和非同源末端连接（NHEJ）两种修复途径。其功能依赖于与泛素结合酶UBC13的相互作用，催化组蛋白H2A和H2AX的泛素化，形成修复信号平台。突变或缺失RNF8会导致基因组不稳定、细胞对辐射敏感，并可能引发癌症（如乳腺癌、卵巢癌）或免疫缺陷。研究发现，RNF8低表达会削弱DNA损伤应答，增加细胞凋亡；而过表达可能通过异常激活修复通路促进肿瘤细胞耐药性。此外，RNF8还参与减数分裂、端粒维护和病毒感染防御等过程。其家族成员（如RNF168、RNF4）也参与泛素化调控，但靶向不同底物或修复阶段。例如，RNF168与RNF8协同放大泛素信号，而RNF4负责清除过度泛素化的蛋白。RNF8的功能紊乱与多种疾病相关，包括范可尼贫血（Fanconi anemia）和早衰样综合征。专业术语解释：E3泛素连接酶（E3 ubiquitin ligase）——决定泛素化特异性的酶；同源重组（HR）——高保真修复方式，依赖姐妹染色单体模板；非同源末端连接（NHEJ）——易出错的直接连接修复。若存在翻译争议，"泛素化"可标注为ubiquitylation（英文常用拼写）。

The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin ligase (E3) in the ubiquitination of certain nuclear proteins. This protein is also known to play a role in the DNA damage response and depletion of this protein causes cell growth inhibition and cell cycle arrest. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

由该基因编码的蛋白质中含有RING指结构和FHA域。这种蛋白已经显示出与二几个类泛素结合酶（E2），其中包括UBE2E1 / UBCH6，UBE2E2和UBE2E3相互作用，并且可以如在某些核蛋白质的泛素化的泛素连接酶（E3）行动。这种蛋白还已知在这种蛋白质的DNA损伤应答和耗尽发挥作用导致细胞生长抑制和细胞周期停滞。选择性剪接结果在多个抄本变形。 [由RefSeq的，2012年2月提供]

OMIM数据库中对RNF8基因的介绍     Wikipedia数据库中对RNF8基因的介绍

基因序列

基因序列

RNF8基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

RNF8基因的碱基突变：           仅显示部分snp
rs195402       rs195419       rs195420       rs3778014       rs4714059       rs6938578       rs11359700       rs11751107       rs11751749       rs11966617       rs13192558       rs13192693       rs56242039       rs62406473       rs62406474       rs66927519       rs70977652      

基因表达

基因表达

RNF8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
AGGAAGAAGTTCTTAGCCAC
57
CTTCAGAACAATCTCTTTGCTC
58
CTTCTTCGTCACAGGAGAC
58
CTCGTCCTACAGTCACCTC
59
TTCTTCGTCACAGGAGACC
59
GTTCATAACAACCCTCGCAC
60
TTCATTGAGGCTGTCACCT
59
TTCTATCTTCCGCTTCATCCA
59
ATGATTTCTCGAAACCACTGTG
59
ACCATTTAGACTCTTGTTGTCC
58
CAGCATCTTCAGGGTTTGG
59
GCTTGCATCTTCTCCTTCTC
59
CTGCAGGAGGAAGAGAAGG
60
ATTGGAGCTCATTCTCTAGCA
59
CATCTTCAGCCAGCATGTG
59
CTATAGGCACTGTGGAAGGT
59
TGATTTCTCGAAACCACTGTG
59
CACCATTTAGACTCTTGTTGTCC
60
CTTCTTCGTCACAGGAGAC
58
CTCGTCCTACAGTCACCTC
59

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
CHD4
RNF8
Unknown
22531782

基因本体信息

RNF8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

RNF8基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005634
C9J858 (UniProtKB)
IDA
GO:0005737
C9J858 (UniProtKB)
IDA
GO:0000151
O76064 (UniProtKB)
IDA
GO:0000151
O76064 (UniProtKB)
IDA
GO:0000781
O76064 (UniProtKB)
ISS
GO:0003682
O76064 (UniProtKB)
IDA
GO:0003682
O76064 (UniProtKB)
IDA
GO:0004842
O76064 (UniProtKB)
IDA
GO:0004842
O76064 (UniProtKB)
IDA
GO:0004842
O76064 (UniProtKB)
IDA
GO:0004842
O76064 (UniProtKB)
IDA
GO:0004842
O76064 (UniProtKB)
IDA
GO:0004842
O76064 (UniProtKB)
IDA
GO:0004842
O76064 (UniProtKB)
IDA
GO:0005515
O76064 (UniProtKB)
IPI
GO:0005515
O76064 (UniProtKB)
IPI
GO:0005515
O76064 (UniProtKB)
IPI
GO:0005515
O76064 (UniProtKB)
IPI
GO:0005515
O76064 (UniProtKB)
IPI
GO:0005515
O76064 (UniProtKB)
IPI
GO:0005515
O76064 (UniProtKB)
IPI
GO:0005515
O76064 (UniProtKB)
IPI
GO:0005515
O76064 (UniProtKB)
IPI
GO:0005515
O76064 (UniProtKB)
IPI
GO:0005515
O76064 (UniProtKB)
IPI
GO:0005515
O76064 (UniProtKB)
IPI
GO:0005515
O76064 (UniProtKB)
IPI
GO:0005515
O76064 (UniProtKB)
IPI
GO:0005515
O76064 (UniProtKB)
IPI
GO:0005515
O76064 (UniProtKB)
IPI
GO:0005515
O76064 (UniProtKB)
IPI
GO:0005515
O76064 (UniProtKB)
IPI
GO:0005634
O76064 (UniProtKB)
IDA
GO:0005634
O76064 (UniProtKB)
IDA
GO:0005634
O76064 (UniProtKB)
IDA
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005654
O76064 (UniProtKB)
TAS
GO:0005737
O76064 (UniProtKB)
IDA
GO:0006302
O76064 (UniProtKB)
IDA
GO:0006302
O76064 (UniProtKB)
IDA
GO:0006302
O76064 (UniProtKB)
IDA
GO:0006303
O76064 (UniProtKB)
ISS
GO:0006303
O76064 (UniProtKB)
TAS
GO:0006511
O76064 (UniProtKB)
IDA
GO:0006511
O76064 (UniProtKB)
IDA
GO:0006974
O76064 (UniProtKB)
IDA
GO:0006974
O76064 (UniProtKB)
IDA
GO:0006974
O76064 (UniProtKB)
IDA
GO:0006974
O76064 (UniProtKB)
IDA
GO:0006974
O76064 (UniProtKB)
IDA
GO:0007067
O76064 (UniProtKB)
IEA
GO:0007286
O76064 (UniProtKB)
ISS
GO:0008270
O76064 (UniProtKB)
IDA
GO:0010212
O76064 (UniProtKB)
IDA
GO:0010212
O76064 (UniProtKB)
IDA
GO:0016874
O76064 (UniProtKB)
IEA
GO:0030496
O76064 (UniProtKB)
IEA
GO:0031625
O76064 (UniProtKB)
IPI
GO:0033522
O76064 (UniProtKB)
IDA
GO:0033522
O76064 (UniProtKB)
IDA
GO:0033523
O76064 (UniProtKB)
ISS
GO:0034244
O76064 (UniProtKB)
IMP
GO:0035861
O76064 (UniProtKB)
IDA
GO:0036297
O76064 (UniProtKB)
TAS
GO:0042393
O76064 (UniProtKB)
IDA
GO:0042393
O76064 (UniProtKB)
IDA
GO:0042803
O76064 (UniProtKB)
IDA
GO:0043486
O76064 (UniProtKB)
ISS
GO:0045190
O76064 (UniProtKB)
ISS
GO:0045739
O76064 (UniProtKB)
IDA
GO:0045739
O76064 (UniProtKB)
IDA
GO:0051301
O76064 (UniProtKB)
IEA
GO:0051865
O76064 (UniProtKB)
IDA
GO:0070534
O76064 (UniProtKB)
IDA
GO:0070535
O76064 (UniProtKB)
IMP
GO:0070535
O76064 (UniProtKB)
IDA
GO:0070936
O76064 (UniProtKB)
IDA
GO:0070936
O76064 (UniProtKB)
IDA
GO:0070936
O76064 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 RNF8基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

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
Autistic Disorder 0.12 1 0 CTD_human
Azoospermia 0.000271442 1 0 BeFree
Carcinogenesis 0.000271442 1 0 BeFree
Ovarian Carcinoma 0.000271442 1 0 BeFree
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 0.000271442 1 0 BeFree
Central neuroblastoma 0.000271442 1 0 BeFree
Neuroblastoma 0.000271442 1 0 BeFree
Triple Negative Breast Neoplasms 0.000271442 1 0 BeFree
Fanconi Anemia 0.000271442 1 0 BeFree
Malignant neoplasm of ovary 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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