NBN (nibrin)

基因基本信息

基因基本信息

symbol:
NBN
locus group:
protein-coding gene
location:
8q21.3
gene_family:
alias symbol:
ATV|AT-V2|AT-V1
alias name:
None
entrez id:
4683
ensembl gene id:
ENSG00000104320
ucsc gene id:
uc003yej.2
refseq accession:
NM_001024688
hgnc_id:
HGNC:7652
approved reserved:
1997-11-28

基因染色体位置

基因染色体位置

8q21.3
基因染色体位置图

基因简述

基因简述

NBN基因（Nibrin）位于人类染色体8q21.3，编码一种称为nibrin的蛋白质，是MRE11-RAD50-NBN（MRN）复合体的核心成员之一。这个复合体在DNA双链断裂（DSB）修复和细胞周期检查点激活中起关键作用，特别是通过同源重组（HR）和非同源末端连接（NHEJ）途径修复DNA损伤。NBN蛋白直接参与识别和稳定断裂的DNA末端，并招募其他修复蛋白如ATM激酶，从而触发细胞对DNA损伤的反应。NBN基因突变会导致其功能丧失，影响MRN复合体的稳定性，进而损害DNA修复能力。最常见的NBN突变与奈梅亨断裂综合征（Nijmegen breakage syndrome, NBS）相关，这是一种常染色体隐性遗传病，患者表现为小头畸形、免疫缺陷、对辐射敏感以及癌症易感性（尤其是淋巴瘤）。此外，NBN突变还与乳腺癌、卵巢癌等癌症风险增加有关。如果NBN过表达，可能增强DNA修复能力，但异常高表达也可能干扰正常的细胞周期调控；而降低表达或功能缺失会导致基因组不稳定，增加突变积累和肿瘤发生风险。NBN属于MRE11/RAD50/NBN基因家族，这些基因的共性在于编码的蛋白质形成MRN复合体，共同参与DNA损伤应答、端粒维持和减数分裂重组。该家族成员在进化上高度保守，其功能缺陷均会导致基因组不稳定性及相关疾病。研究NBN不仅有助于理解DNA修复机制，还为癌症治疗（如靶向DNA修复途径的疗法）和遗传病诊断提供了重要线索。

Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]

在这个基因的突变与奈梅亨断裂综合征，一种常染色体隐性染色体不稳定综合征，表现为小头畸形，发育迟缓，免疫缺陷和癌症易感性有关。所编码的蛋白质是MRE11 / RAD50双链断裂修复它由5蛋白质的成员。该基因产物被认为是参与DNA双链断裂修复和DNA损伤诱导的检查点活化。 [由RefSeq的，2008年7月提供]

OMIM数据库中对CCND1基因的介绍     Wikipedia数据库中对CCND1基因的介绍

基因序列

基因序列

CCND1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

NBN基因的碱基突变：           仅显示部分snp
rs3358       rs9995       rs14448       rs16786       rs709816       rs741777       rs741778       rs769414       rs769416       rs769417       rs769418       rs769420       rs867185       rs1061302       rs1063045       rs1063053       rs1063054      

基因表达

基因表达

NBN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
ATGATCAGTCGATCAGCCG
60
GGATTTCATCTGTTTGACTCAGG
60
AGGAGGAGAACCATACAGAC
58
ATGATTTCGGCTGATCGAC
58
TTTCCCGAACTTTGAAGTCG
59
CCAAAGGCTCATACTCTATTCTG
59
GTAAATTCAGATGTCTCTGGGA
58
TGAGTGCATTCTTCTGTCC
58
CAGAAATTGGATTGGCGGT
59
TCTTTAATCCTGTACTGGGATGG
60
GACAGTGACCTATCACTATAGCA
59
CCTGAAGTAGATGCTTACTAGG
58
AATGTTGATCTGTCAGGACG
58
CGGAACTCAATTTCTTATGCTG
58
TTCAGGATGATAGTGAGATGC
57
CACCAGTGATCTAAATTCAGTC
57
CCCACATCACAGATGTAAAGAC
59
TCCTTTGGAATCTGTTAGTGTG
58
AAATGATCAGTCGATCAGCC
58
GATTTCATCTGTTTGACTCAGG
58

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）
SIRT1
NBN
Activation
18692496

基因本体信息

NBN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

NBN基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000723
A0A0C4DG07 (UniProtKB)
IEA
GO:0000781
A0A0C4DG07 (UniProtKB)
IEA
GO:0006281
A0A0C4DG07 (UniProtKB)
IEA
GO:0007093
A0A0C4DG07 (UniProtKB)
IEA
GO:0030870
A0A0C4DG07 (UniProtKB)
IEA
GO:0051321
A0A0C4DG07 (UniProtKB)
IEA
GO:0000077
O60934 (UniProtKB)
IDA
GO:0000723
O60934 (UniProtKB)
IMP
GO:0000724
O60934 (UniProtKB)
IBA
GO:0000724
O60934 (UniProtKB)
TAS
GO:0000729
O60934 (UniProtKB)
TAS
GO:0000731
O60934 (UniProtKB)
TAS
GO:0000732
O60934 (UniProtKB)
TAS
GO:0000784
O60934 (UniProtKB)
IDA
GO:0000784
O60934 (UniProtKB)
IDA
GO:0001832
O60934 (UniProtKB)
IEA
GO:0003684
O60934 (UniProtKB)
IBA
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005515
O60934 (UniProtKB)
IPI
GO:0005634
O60934 (UniProtKB)
IDA
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005654
O60934 (UniProtKB)
TAS
GO:0005657
O60934 (UniProtKB)
IEA
GO:0005730
O60934 (UniProtKB)
IDA
GO:0005829
O60934 (UniProtKB)
TAS
GO:0005829
O60934 (UniProtKB)
TAS
GO:0006260
O60934 (UniProtKB)
TAS
GO:0006260
O60934 (UniProtKB)
TAS
GO:0006302
O60934 (UniProtKB)
IDA
GO:0006303
O60934 (UniProtKB)
TAS
GO:0007050
O60934 (UniProtKB)
TAS
GO:0007093
O60934 (UniProtKB)
IDA
GO:0007095
O60934 (UniProtKB)
IDA
GO:0008134
O60934 (UniProtKB)
IPI
GO:0008283
O60934 (UniProtKB)
IEA
GO:0016605
O60934 (UniProtKB)
IDA
GO:0016605
O60934 (UniProtKB)
IDA
GO:0030174
O60934 (UniProtKB)
TAS
GO:0030330
O60934 (UniProtKB)
TAS
GO:0030870
O60934 (UniProtKB)
IDA
GO:0030870
O60934 (UniProtKB)
IDA
GO:0031860
O60934 (UniProtKB)
IMP
GO:0031954
O60934 (UniProtKB)
IDA
GO:0032206
O60934 (UniProtKB)
IMP
GO:0032508
O60934 (UniProtKB)
IMP
GO:0033674
O60934 (UniProtKB)
IDA
GO:0035861
O60934 (UniProtKB)
IDA
GO:0042405
O60934 (UniProtKB)
IDA
GO:0045190
O60934 (UniProtKB)
IEA
GO:0047485
O60934 (UniProtKB)
IPI
GO:0050885
O60934 (UniProtKB)
IEA
GO:0051321
O60934 (UniProtKB)
IEA
GO:0097193
O60934 (UniProtKB)
IEA
GO:1901796
O60934 (UniProtKB)
TAS
GO:1904354
O60934 (UniProtKB)
IMP
GO:0000784
O60934 (UniProtKB)
ISS
GO:0003684
O60934 (UniProtKB)
IC
GO:0004003
O60934 (UniProtKB)
IMP

基因相关microRNA

基因相关microRNA

可能调控 NBN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
Nijmegen Breakage Syndrome 0.495682767 108 13 BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET
Malignant neoplasm of breast 0.193953213 50 6 BeFree_GAD_UNIPROT
Aplastic Anemia 0.120542884 2 1 BeFree_CLINVAR
Stomatitis 0.120271442 1 0 BeFree_CTD_human
Neoplastic Syndromes, Hereditary 0.12 0 31 CLINVAR
Prostatic Neoplasms 0.12 1 0 CTD_human
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 0.12 0 1 CLINVAR
Hereditary Breast and Ovarian Cancer Syndrome 0.12 0 0 ORPHANET
Prostate cancer, familial 0.12 0 0 ORPHANET
Mammary Neoplasms 0.024161834 9 0 GAD_LHGDN

基因相关服务

基因相关服务

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