NBNGene Detail-Gene Database-Genelibs

NBN (nibrin)

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

8q21.3

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。

ChineseEnglish

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]

OMIM entry for NBN Wikipedia entry for NBN

Nucleotide sequence of NBN:[NCBI]

Loading Gene Browser...

Protein Sequence

1MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS
41ISRNHAVLTA NFSVTNLSQT DEIPVLTLKD NSKYGTFVNE
81
EKMQNGFSR TLKSGDGITF GVFGSKFRIE YEPLVACSSC
121LDVSGKTALN QAILQLGGFT VNNWTEECTH LVMVSVKVTI
161K
TICALICG RPIVKPEYFT EFLKAVESKK QPPQIESFYP
201PLDEPSIGSK NVDLSGRQER KQIFKGKTFI FLNAKQHKKL
241SS
AVVFGGG EARLITEENE EEHNFFLAPG TCVVDTGITN
281SQTLIPDCQK KWIQSIMDML QRQGLRPIPE AEIGLAVIFM
321TTK
NYCDPQ GHPSTGLKTT TPGPSLSQGV SVDEKLMPSA
361PVNTTTYVAD TESEQADTWD LSERPKEIKV SKMEQKFRML
401SQDA
PTVKE SCKTSSNNNS MVSNTLAKMR IPNYQLSPTK
441LPSINKSKDR ASQQQQTNSI RNYFQPSTKK RERDEENQEM
481SSCKS
ARIE TSCSLLEQTQ PATPSLWKNK EQHLSENEPV
521DTNSDNNLFT DTDLKSIVKN SASKSHAAEK LRSNKKREMD
561DVAIED
EVL EQLFKDTKPE LEIDVKVQKQ EEDVNVRKRP
601RMDIETNDTF SDEAVPESSK ISQENEIGKK RELKEDSLWS
641AKEISNN
DK LQDDSEMLPK KLLLTEFRSL VIKNSTSRNP
681SGINDDYGQL KNFKKFKKVT YPGAGKLPHI IGGSDLIAHH
721ARKNTELE
E WLRQEMEVQN QHAKEESLAD DLFRYNPYLK
761RRR

结构预测来自 AlphaFold DB（UniProt: O60934），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

SNP variants of NBN: Showing partial SNPs

rs3358 rs9995 rs14448 rs16786 rs709816 rs741777 rs741778 rs769414 rs769416 rs769417 rs769418 rs769420 rs867185 rs1061302 rs1063045 rs1063053 rs1063054

Tissue expression of NBN: [UniProt]

Forward Primer

Forward Tm

Reverse Primer

Reverse Tm

Score

ATGATCAGTCGATCAGCCG

GGATTTCATCTGTTTGACTCAGG

AGGAGGAGAACCATACAGAC

ATGATTTCGGCTGATCGAC

TTTCCCGAACTTTGAAGTCG

CCAAAGGCTCATACTCTATTCTG

GTAAATTCAGATGTCTCTGGGA

TGAGTGCATTCTTCTGTCC

CAGAAATTGGATTGGCGGT

TCTTTAATCCTGTACTGGGATGG

GACAGTGACCTATCACTATAGCA

CCTGAAGTAGATGCTTACTAGG

AATGTTGATCTGTCAGGACG

CGGAACTCAATTTCTTATGCTG

TTCAGGATGATAGTGAGATGC

CACCAGTGATCTAAATTCAGTC

CCCACATCACAGATGTAAAGAC

TCCTTTGGAATCTGTTAGTGTG

AAATGATCAGTCGATCAGCC

GATTTCATCTGTTTGACTCAGG

Transcription Factors

Target Gene

Interaction Type

PubMed References

SIRT1

NBN

Activation

18692496

Subcellular localization of NBN (and its protein):

[UniProt] [GenomeNet]

plasma membrane
cytoplasm
extracellular
golgi
vesicle
cytoskeleton
endoplasmic reticulum
nucleus
endosome
lysosome
mitochondrion

Gene Ontology (GO) terms for NBN:

GO ID

Protein

Source DB

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)

GO:0004003

O60934 (UniProtKB)

IMP

microRNAs potentially regulating NBN:

hsa-miR-132 hsa-miR-192 hsa-miR-106b hsa-miR-106b* hsa-miR-125a-3p hsa-miR-125a-5p hsa-miR-181a hsa-miR-181b hsa-miR-181c hsa-miR-181c*

String

BioGrid

IntAct

mentha

MINT

Reactome

Loading…

Interacting Gene	Interaction	Source/Score

KEGG
Reactomepathway

Name
3440 Homologous recombination [PATH:hsa03440]

Name
Assembly of the RAD50-MRE11-NBS1 complex at DNA double-strand breaks
ATM mediated phosphorylation of repair proteins
ATM mediated response to DNA double-strand break
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

Disease

Score

NofPmids

NofSnps

Source

Disease	Score	NofPmids	NofSnps	Source
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

Risk of ovarian cancer in women with a pathogenic or likely pathogenic variant in NBN: a systematic review and meta-analysis.

Ganesan S, Mansour L, Dibden A, Sideris M, Malan A, Oxley S, Kalra A, Sia J, Wei X, Deshmukh P, Mohamed H, Morgan RD, Flaum N, Brentnall A, Fierheller CT, Evans DG, Manchanda R Am J Obstet Gynecol IF: 7.9 2026-08-00

Parallel Activation and Interference CRISPR (PAIR) with Sequencing Uncovers DNA Repair Networks Guiding Precision Cell Engineering.

Chang C, Gan D, Diao L, Wang L, Lacelle C, Hon GC, Li J, Zhao M, Zhang S bioRxiv 2026-05-08

Phase-Dependent Oxygen Defect Energetics in Epitaxial NbN/AlN/NbN Films.

Garg P, Kaushik K, Wang D, Pieczulewski N, Ithepalli A, Wright J, Jena D, Muller DA, Tang HX, Dreyer C, Mazumder B Adv Sci (Weinh) IF: 9.034 2026-08-05

Outcomes of 35-Week-Old Infants Routinely Admitted to Higher Levels of Care.

Burch JL, Winkler AE, Danaher-Garcia N, Turcu R, Sarathy L Hosp Pediatr IF: 2.2 2026-07-24

Fast-Recovery Epitaxial NbN Superconducting Nanowire Single-Photon Detectors with Saturated Efficiency at 1550 nm in Liquid Helium.

Incalza F, Castellani M, Joti Paul D, Simon A, Batson E, Mondin D, Medeiros O, Berggren KK Nano Lett IF: 9.1 2026-06-03

Targeted gene sequencing and bioinformatics analysis of a patient with gallbladder adenosquamous carcinoma: a case report.

Gu Y, Chen Z, Fang Q, Li Q Front Oncol IF: 3.4 None

NBN rs1805794 Polymorphism Increases the Predictive Performance of Machine Learning Models for Multiple Chronic Toxicities in Head and Neck Cancer Survivors Treated with Definitive Radiotherapy ± Chemotherapy.

Yener S, Ekizoglu S, Dağdelen M, Civan G, Tevetoğlu F, Çakan ZK, Çırakoğlu A, Uzel ÖE J Clin Med 2026-08-13

Type-II band-engineered infrared detectors: III-V T2SLs, 2D junctions, and mixed-dimensional hybrids.

Zhang Y, Su W, Zhou W RSC Adv IF: 3.108 2026-08-27

The synergistic effect of Pd-like NbN superatom substitution and electron-withdrawing ligand modification on the catalytic performance of fullerene for the Suzuki reaction: a theoretical study.

Zhang ZC, Huang SY, Zhong HY, Xie WX, Wang WH, Sun WM Dalton Trans IF: 3.3 2026-08-18