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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NBN
nibrin
Chromosome 8 Β· 8q21.3
NCBI Gene: 4683Ensembl: ENSG00000104320.15HGNC: HGNC:7652UniProt: A0A0C4DG07
604PubMed Papers
23Diseases
0Drugs
540Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHomologous RecombinationHub Gene
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
DNA damage checkpoint signalingchromosome, telomeric regiontelomeric 3' overhang formationpositive regulation of telomere maintenanceNijmegen breakage syndromeaplastic anemiaT-cell acute lymphoblastic leukemiaacute lymphoblastic leukemia
✦AI Summary

NBN (nibrin) is a critical component of the MRN complex, which orchestrates DNA double-strand break (DSB) repair and genomic stability 1. As a protein-protein adapter within the MRN complex, NBN recognizes phosphorylated proteins and recruits them to DNA damage sites, facilitating the assembly of repair machinery including MRE11 and RAD50 2. The MRN complex initiates homologous recombination repair by mediating DNA end resection and recruiting damage-response kinases (ATM, ATR) to activate cell cycle checkpoints 1. NBN also regulates telomere maintenance through interactions with TERF2, balancing different repair pathways (non-homologous end joining versus microhomology-mediated end-joining) depending on its phosphorylation status 3. Beyond classical DSB repair, the MRN complex liberates cGAS from nucleosome inhibition, enabling innate immune activation and tumor suppression through necroptosis 1. Functionally, cells expressing NBN truncating variants show heightened sensitivity to ionizing radiation and impaired DNA damage signaling 3. Clinically, heterozygous NBN pathogenic variants confer increased cancer susceptibility, particularly for melanoma, pancreatic, prostate, and hematological malignancies, while biallelic mutations cause Nijmegen breakage syndrome 4. These findings establish NBN as a pan-cancer susceptibility gene requiring personalized clinical risk assessment 3.

Sources cited
1
MRE11-RAD50-NBN complex liberates cGAS from nucleosome sequestration to enable cGAS-STING-mediated tumor suppression through necroptosis
PMID: 38200309
2
MRN complex senses DNA double-strand breaks and initiates DNA repair while activating ATM kinase for cell cycle checkpoint coordination
PMID: 36982687
3
NBN pathogenic germline variants are associated with pan-cancer susceptibility; cells with truncating NBN variants show increased radiosensitivity and impaired DNA damage signaling
PMID: 36346689
4
NBN pathogenic variant carriers show increased risk for melanoma, pancreatic cancer, hematological tumors, and prostate cancer, with biallelic mutations causing chromosomal instability syndromes
PMID: 38924040
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜23
Nijmegen breakage syndromeOpen Targets
0.82Strong
aplastic anemiaOpen Targets
0.73Strong
T-cell acute lymphoblastic leukemiaOpen Targets
0.72Strong
acute lymphoblastic leukemiaOpen Targets
0.69Moderate
breast cancerOpen Targets
0.61Moderate
hereditary neoplastic syndromeOpen Targets
0.58Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.58Moderate
Hereditary breast and ovarian cancer syndromeOpen Targets
0.55Moderate
gliomaOpen Targets
0.54Moderate
cancerOpen Targets
0.54Moderate
gastric cancerOpen Targets
0.53Moderate
breast carcinomaOpen Targets
0.52Moderate
hereditary breast ovarian cancer syndromeOpen Targets
0.51Moderate
rhabdomyosarcomaOpen Targets
0.48Moderate
non-Hodgkins lymphomaOpen Targets
0.47Moderate
medulloblastomaOpen Targets
0.47Moderate
central nervous system cancerOpen Targets
0.46Moderate
breast-ovarian cancer, familial, susceptibility to, 1Open Targets
0.45Moderate
ovarian carcinomaOpen Targets
0.43Moderate
pancreatic carcinomaOpen Targets
0.40Moderate
Aplastic anemiaUniProt
Breast cancerUniProt
Nijmegen breakage syndromeUniProt
Pathogenic Variants540
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Microcephaly, normal intelligence and immunodeficiency|Microcephaly, normal intelligence and immunodeficiency;Malignant tumor of breast|Aplastic anemia|NBN-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 706
NM_002485.5(NBN):c.156_157del (p.Ser53fs)Pathogenic
Microcephaly, normal intelligence and immunodeficiency|Acute lymphoid leukemia|not provided|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|See cases|Aplastic anemia;Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia|Aplastic anemia|NBN-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 53
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)Pathogenic
not provided|Microcephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia;Aplastic anemia|Aplastic anemia
β˜…β˜…β˜†β˜†2026β†’ Residue 714
NM_002485.5(NBN):c.657_661del (p.Lys219fs)Pathogenic
Microcephaly, normal intelligence and immunodeficiency|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Microcephaly;Lissencephaly|not provided|Carcinoma of pancreas|Breast and/or ovarian cancer|Malignant tumor of breast|Microcephaly, normal intelligence and immunodeficiency;Familial cancer of breast|Breast carcinoma|Hepatocellular carcinoma|Aplastic anemia|NBN-related disorder|Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia;Aplastic anemia|Familial prostate cancer
β˜…β˜…β˜†β˜†2026β†’ Residue 219
NM_002485.5(NBN):c.698_701del (p.Lys233fs)Pathogenic
Hereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|not provided|Malignant tumor of breast|Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia;Aplastic anemia|Aplastic anemia|NBN-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 233
NM_002485.5(NBN):c.2071-1G>ALikely pathogenic
not provided|Hereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|Aplastic anemia
β˜…β˜…β˜†β˜†2026
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)Pathogenic
Microcephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome|not provided|Aplastic anemia;Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia|Gastric cancer|Aplastic anemia
β˜…β˜…β˜†β˜†2026β†’ Residue 89
NM_002485.5(NBN):c.897-2A>TLikely pathogenic
Microcephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome|not provided|Acute lymphoid leukemia;Microcephaly, normal intelligence and immunodeficiency;Aplastic anemia|NBN-related disorder|Aplastic anemia
β˜…β˜…β˜†β˜†2025
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Microcephaly, normal intelligence and immunodeficiency|Aplastic anemia;Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia|Aplastic anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 635
NM_002485.5(NBN):c.48C>G (p.Tyr16Ter)Pathogenic
Microcephaly, normal intelligence and immunodeficiency|NBN-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 16
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)Pathogenic
Microcephaly, normal intelligence and immunodeficiency|not provided|Hereditary cancer-predisposing syndrome|Aplastic anemia;Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia|Aplastic anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 344
NM_002485.5(NBN):c.210_211del (p.Asp70fs)Pathogenic
Hereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|not provided|Aplastic anemia;Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia
β˜…β˜…β˜†β˜†2025β†’ Residue 70
NM_002485.5(NBN):c.1837A>T (p.Lys613Ter)Pathogenic
Microcephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome|Aplastic anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 613
NM_002485.5(NBN):c.141_142del (p.Leu48fs)Pathogenic
not provided|Microcephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome|Aplastic anemia|Aplastic anemia;Acute lymphoid leukemia;Microcephaly, normal intelligence and immunodeficiency|Hereditary breast ovarian cancer syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 48
NM_002485.5(NBN):c.93_94del (p.Ala32fs)Pathogenic
Microcephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome|not provided|Prostate cancer susceptibility;Lymphoma;Familial cancer of breast|Aplastic anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 32
NM_002485.5(NBN):c.37+1G>APathogenic
Hereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|not provided|Breast and/or ovarian cancer|Breast-ovarian cancer, familial, susceptibility to, 1|Aplastic anemia|Aplastic anemia;Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia
β˜…β˜…β˜†β˜†2025
NM_002485.5(NBN):c.1071dup (p.Val358fs)Pathogenic
Ovarian carcinoma|Microcephaly, normal intelligence and immunodeficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 358
NM_002485.5(NBN):c.2070+2T>GLikely pathogenic
Hereditary cancer-predisposing syndrome|not provided|Microcephaly, normal intelligence and immunodeficiency
β˜…β˜…β˜†β˜†2025
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)Pathogenic
Microcephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome|not provided|Acute lymphoid leukemia;Microcephaly, normal intelligence and immunodeficiency;Aplastic anemia|Aplastic anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 583
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs)Pathogenic
Microcephaly, normal intelligence and immunodeficiency|not provided|Hereditary cancer-predisposing syndrome|Aplastic anemia|Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia;Aplastic anemia
β˜…β˜…β˜†β˜†2025β†’ Residue 419
View on ClinVar β†—
Related Genes
RFC4Protein interaction100%RAD17Protein interaction100%TERF2IPProtein interaction100%ABRAXAS1Protein interaction100%XRCC2Protein interaction100%UIMC1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
51%
Lung
44%
Brain
41%
Ovary
34%
Liver
33%
Gene Interaction Network
Click a node to explore
NBNRFC4RAD17TERF2IPABRAXAS1XRCC2UIMC1
PROTEIN STRUCTURE
Preparing viewer…
PDB7SID Β· 2.53 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.06LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.86 [0.70–1.06]
RankingsWhere NBN stands among ~20K protein-coding genes
  • #390of 20,598
    Most Researched604 Β· top 5%
  • #97of 5,498
    Most Pathogenic Variants540 Β· top 5%
  • #10,603of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedNBN
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Antipsychotic Drugs: A Concise Review of History, Classification, Indications, Mechanism, Efficacy, Side Effects, Dosing, and Clinical Application.
PMID: 39350614
Am J Psychiatry Β· 2024
1.00
2
MRE11 liberates cGAS from nucleosome sequestration during tumorigenesis.
PMID: 38200309
Nature Β· 2024
0.90
3
NBN Gene Analysis and it's Impact on Breast Cancer.
PMID: 31278556
J Med Syst Β· 2019
0.82
4
NBN: protein instability, ALL susceptibility.
PMID: 38814657
Blood Β· 2024
0.80
5
Hereditary Ovarian Carcinoma: Cancer Pathogenesis Looking beyond
PMID: 35159349
Cells Β· 2022
0.80