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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NBN Gene

protein-coding   GIFtS: 66
GCID: GC08M091015

Nibrin

(Previous name: Nijmegen breakage syndrome 1 (nibrin))
(Previous symbols: NBS, NBS1)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
nibrin1 2     AT-V12
NBS1 2 3 5     AT-V22
NBS11 2 3 5     ATV2
Nijmegen Breakage Syndrome 1 (Nibrin)1 2     P95 Protein Of The MRE11/RAD50 Complex2
Cell Cycle Regulatory Protein P952 3     Nijmegen Breakage Syndrome Protein 13
P952 3     

External Ids:    HGNC: 76521   Entrez Gene: 46832   Ensembl: ENSG000001043207   OMIM: 6026675   UniProtKB: O609343   

Export aliases for NBN gene to outside databases

Previous GC identifer: GC08M086155


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NBN Gene:
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)

GeneCards Summary for NBN Gene: 
NBN (nibrin) is a protein-coding gene. Diseases associated with NBN include nijmegen breakage syndrome, and non-hodgkin lymphoma, childhood, and among its related super-pathways are Homologous recombination and Recruitment of repair and signaling proteins to double-strand breaks. GO annotations related to this gene include damaged DNA binding and transcription factor binding.

UniProtKB/Swiss-Prot: NBN_HUMAN, O60934
Function: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to
DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB)
repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The
complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity,
which are provided by MRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN
modulate the DNA damage signal sensing by recruiting PI3/PI4-kinase family members ATM, ATR, and probably
DNA-PKcs to the DNA damage sites and activating their functions. It can also recruit MRE11 and RAD50 to the
proximity of DSBs by an interaction with the histone H2AX. NBN also functions in telomere length maintenance by
generating the 3' overhang which serves as a primer for telomerase dependent telomere elongation. NBN is a major
player in the control of intra-S-phase checkpoint and there is some evidence that NBN is involved in G1 and G2
checkpoints. The roles of NBS1/MRN encompass DNA damage sensor, signal transducer, and effector, which enable
cells to maintain DNA integrity and genomic stability. Forms a complex with RBBP8 to link DNA double-strand break
sensing to resection

Gene Wiki entry for NBN (Nibrin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_008046.16  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NBN gene promoter:
         TBP   p53   AP-1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NBN promoter sequence
   Search SABiosciences Chromatin IP Primers for NBN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NBN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q21   Ensembl cytogenetic band:  8q21.3   HGNC cytogenetic band: 8q21-q24

NBN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NBN gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M091015:  view genomic region     (about GC identifiers)

Start:
90,945,564 bp from pter      End:
91,015,456 bp from pter
Size:
69,893 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NBN_HUMAN, O60934 (See protein sequence)
Recommended Name: Nibrin  
Size: 754 amino acids; 84959 Da
Subunit: Component of the MRN complex composed of two heterodimers RAD50/MRE11A associated with a single NBN.
Component of the BASC complex, at least composed of BRCA1, MSH2, MSH6, MLH1, ATM, BLM, RAD50 and MRE11A (By
similarity). Interacts with histone H2AFX this requires phosphorylation of H2AFX on 'Ser-139'. Interacts with
HJURP, INTS3, KPNA2 and TERF2. Interacts with RBBP8; the interaction links the role of the MRN complex in DNA
double-strand break sensing to resection. Interacts with SP100; recruits NBN to PML bodies
Subcellular location: Nucleus (By similarity). Nucleus, PML body. Chromosome, telomere (By similarity).
Note=Localizes to discrete nuclear foci after treatment with genotoxic agents (By similarity)
Miscellaneous: In case of infection by adenovirus E4, the MRN complex is inactivated and degraded by viral
oncoproteins, thereby preventing concatenation of viral genomes in infected cells
Sequence caution: Sequence=AAI08651.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence starting in position 550; Sequence=CAH56160.1; Type=Erroneous initiation; Note=Translation
N-terminally extended;
Secondary accessions: B2R626 B2RNC5 O60672 Q32NF7 Q53FM6 Q63HR6 Q7LDM2

Explore the universe of human proteins at neXtProt for NBN: NX_O60934

Explore proteomics data for NBN at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by ATM in response of ionizing radiation, and such phosphorylation is responsible intra-S phase
    checkpoint control and telomere maintenance
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O60934

  • NBN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NBN Protein Expression
    REFSEQ proteins: NP_002476.2  
    ENSEMBL proteins: 
     ENSP00000265433   ENSP00000379551   ENSP00000386924   ENSP00000430983   ENSP00000428717  
     ENSP00000428252   ENSP00000429971  
    Reactome Protein details: O60934
    Human Recombinant Protein Products for NBN: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for NBN
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for NBN
    GenScript Custom Purified and Recombinant Proteins Services for NBN
    Novus Biologicals NBN Proteins
    Novus Biologicals NBN Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NBN 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000784nuclear chromosome, telomeric region IDA10888888
    GO:0005634nucleus IDA10888888
    GO:0005654nucleoplasm TAS--
    GO:0005657replication fork IEA--
    GO:0005730nucleolus IDA10888888

    NBN for ontologies           About GeneDecksing



    NBN Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of NBN
    R&D Systems Antibodies for NBN (Nbs1)
    Cell Signaling Technology (CST) Antibodies for NBN  (NBS1)
    OriGene Antibodies for NBN
    OriGene Custom Antibody Services for NBN
    GenScript Custom Superior Antibodies Services for NBN
    Novus Biologicals NBN Antibodies
    Abcam antibodies for NBN
    Cloud-Clone Corp. Antibodies for NBN 
    ThermoFisher Antibodies for NBN
    LSBio Antibodies in human, mouse, rat for NBN 

    Assay Products for NBN: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NBN
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NBN
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NBN 
    Cloud-Clone Corp. CLIAs for NBN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR008984 SMAD_FHA_domain
     IPR016592 Nibrin_met
     IPR000253 FHA_dom
     IPR013908 DNA-repair_Nbs1_C
     IPR001357 BRCT_dom

    Graphical View of Domain Structure for InterPro Entry O60934

    ProtoNet protein and cluster: O60934

    3 Blocks protein domains:
    IPB000253 Forkhead-associated (FHA)
    IPB001357 BRCT domain
    IPB013908 DNA repair Nbs1


    UniProtKB/Swiss-Prot: NBN_HUMAN, O60934
    Domain: The FHA and BRCT domains are likely to have a crucial role for both binding to histone H2AFX and for
    relocalization of MRE11/RAD50 complex to the vicinity of DNA damage
    Domain: The C-terminal domain contains a MRE11-binding site, and this interaction is required for the nuclear
    localization of the MRN complex
    Domain: The EEXXXDDL motif at the C-terminus is required for the interaction with ATM and its recruitment to sites
    of DNA damage and promote the phosphorylation of ATM substrates, leading to the events of DNA damage response
    Similarity: Contains 1 BRCT domain
    Similarity: Contains 1 FHA domain


    NBN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NBN_HUMAN, O60934
    Function: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to
    DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB)
    repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The
    complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity,
    which are provided by MRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN
    modulate the DNA damage signal sensing by recruiting PI3/PI4-kinase family members ATM, ATR, and probably
    DNA-PKcs to the DNA damage sites and activating their functions. It can also recruit MRE11 and RAD50 to the
    proximity of DSBs by an interaction with the histone H2AX. NBN also functions in telomere length maintenance by
    generating the 3' overhang which serves as a primer for telomerase dependent telomere elongation. NBN is a major
    player in the control of intra-S-phase checkpoint and there is some evidence that NBN is involved in G1 and G2
    checkpoints. The roles of NBS1/MRN encompass DNA damage sensor, signal transducer, and effector, which enable
    cells to maintain DNA integrity and genomic stability. Forms a complex with RBBP8 to link DNA double-strand break
    sensing to resection

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003684contributes to damaged DNA binding IC9590180
    GO:0004003contributes to ATP-dependent DNA helicase activity IMP15790808
    GO:0005515protein binding IPI12419185
    GO:0008134transcription factor binding IPI11486038
    GO:0047485protein N-terminus binding IPI9590181
         
    NBN for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for NBN:
     Increased ID2::GFP protein exp  Increased cell death in breast 

         12 MGI mutant phenotypes (inferred from 11 alleles(MGI details for Nbn):
     behavior/neurological  cellular  craniofacial  embryogenesis  endocrine/exocrine gland 
     growth/size  hematopoietic system  immune system  mortality/aging  nervous system 
     reproductive system  tumorigenesis 

    NBN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NBN: Nbntm3Jpt Nbntm1Nus Nbntm2.1Jpt Nbntm2.1Zqw Nbntm1.1Md Nbntm1Zqw
                                                         Nbntm1Jpt Nbntm1Xu

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NBN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NBN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NBN 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NBN 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NBN
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate NBN:
    hsa-miR-4287 hsa-miR-570 hsa-miR-1284 hsa-miR-138-1* hsa-miR-3662 hsa-miR-32* hsa-miR-2113 hsa-miR-103a-2*
    SwitchGear 3'UTR luciferase reporter plasmidNBN 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NBN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NBN

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NBN
    Sirion Biotech Customized adenovirus for overexpression of NBN

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for NBN (see all 8)
    OriGene ORF clones in mouse, rat for NBN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NBN (NM_002485)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NBN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NBN
    Sirion Biotech Customized lentivirus for stable overexpression of NBN 
                         Customized lentivirus expression plasmids for stable overexpression of NBN 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for NBN
    Search LifeMap BioReagents cell lines for NBN
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NBN


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NBN About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Homologous recombination
    Homologous recombination0.40
    Homologous recombination0.40
    2Recruitment of repair and signaling proteins to double-strand breaks
    Recruitment of repair and signaling proteins to double-strand breaks0.62
    Assembly of the RAD50-MRE11-NBS1 complex at DNA double-strand breaks0.50
    ATM mediated response to DNA double-strand break0.62
    MRN complex relocalizes to nuclear foci0.50
    ATM mediated phosphorylation of repair proteins0.62
    3Homologous Recombination Repair
    Homologous recombination repair of replication-independent double-strand breaks0.71
    Homologous Recombination Repair0.71
    Double-Strand Break Repair0.71
    4Meiotic Synapsis
    Meiosis0.70
    Meiotic Recombination0.62
    5DNA Damage
    DNA Damage0.32
    Cell Cycle / Checkpoint Control0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for NBN
        DNA damage ATM/ATR regulation of G1/S checkpoint
    DNA damage Role of Brca1 and Brca2 in DNA repair
    DNA damage NHEJ mechanisms of DSBs repair


    2 Cell Signaling Technology (CST) Pathways for NBN
        Cell Cycle / Checkpoint Control
    DNA Damage

    3 GeneGo (Thomson Reuters) Pathways for NBN
        DNA damage Role of Brca1 and Brca2 in DNA repair
    DNA damage ATM/ATR regulation of G1/S checkpoint
    DNA damage NHEJ mechanisms of DSBs repair

    5 BioSystems Pathways for NBN
        DNA damage response
    Homologous recombination
    BARD1 signaling events
    Regulation of Telomerase
    Validated targets of C-MYC transcriptional activation

    5/11        Reactome Pathways for NBN (see all 11)
        ATM mediated response to DNA double-strand break
    DNA Repair
    Homologous recombination repair of replication-independent double-strand breaks
    Recruitment of repair and signaling proteins to double-strand breaks
    ATM mediated phosphorylation of repair proteins


    1         Kegg Pathway  (Kegg details for NBN):
        Homologous recombination


    NBN for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NBN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/839 Interacting proteins for NBN (O609341, 2, 3 ENSP000002654334) via UniProtKB, MINT, STRING, and/or I2D (see all 839)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206481Q146761, 2, 3, ENSP000003730604EBI-494844,EBI-495644 MINT-7891588 MINT-6805462 MINT-6805527 MINT-6805435 MINT-7891606 MINT-7891437 MINT-6805493 MINT-6805327 MINT-7891485 MINT-6805569 MINT-6805250 MINT-6805281 MINT-7891501 MINT-6805304 MINT-7891455 MINT-6805376 MINT-7891515 MINT-6805510 MINT-7891469 I2D: score=5 STRING: ENSP00000373060
    ENSG00000237095Q146761, 2, 3, ENSP000004091674EBI-494844,EBI-495644 MINT-7891588 MINT-6805462 MINT-6805527 MINT-6805435 MINT-7891606 MINT-7891437 MINT-6805493 MINT-6805327 MINT-7891485 MINT-6805569 MINT-6805250 MINT-6805281 MINT-7891501 MINT-6805304 MINT-7891455 MINT-6805376 MINT-7891515 MINT-6805510 MINT-7891469 I2D: score=5 STRING: ENSP00000409167
    MDC1Q146761, 2, 3, ENSP000003655884EBI-494844,EBI-495644 MINT-7891588 MINT-6805462 MINT-6805527 MINT-6805435 MINT-7891606 MINT-7891437 MINT-6805493 MINT-6805327 MINT-7891485 MINT-6805569 MINT-6805250 MINT-6805281 MINT-7891501 MINT-6805304 MINT-7891455 MINT-6805376 MINT-7891515 MINT-6805510 MINT-7891469 I2D: score=5 STRING: ENSP00000365588
    ENSG00000224587Q146761, 2, 3EBI-494844,EBI-495644 MINT-7891588 MINT-6805462 MINT-6805527 MINT-6805435 MINT-7891606 MINT-7891437 MINT-6805493 MINT-6805327 MINT-7891485 MINT-6805569 MINT-6805250 MINT-6805281 MINT-7891501 MINT-6805304 MINT-7891455 MINT-6805376 MINT-7891515 MINT-6805510 MINT-7891469 I2D: score=5 
    ENSG00000225589Q146761, 2, 3EBI-494844,EBI-495644 MINT-7891588 MINT-6805462 MINT-6805527 MINT-6805435 MINT-7891606 MINT-7891437 MINT-6805493 MINT-6805327 MINT-7891485 MINT-6805569 MINT-6805250 MINT-6805281 MINT-7891501 MINT-6805304 MINT-7891455 MINT-6805376 MINT-7891515 MINT-6805510 MINT-7891469 I2D: score=5 
    About this table

    Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000075cell cycle checkpoint ----
    GO:0000077DNA damage checkpoint IDA12529385
    GO:0000723telomere maintenance IMP11448772
    GO:0000724double-strand break repair via homologous recombination TAS--
    GO:0001701in utero embryonic development ----

    NBN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NBN for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NBN

    10/13 Novoseek inferred chemical compound relationships for NBN gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tin(2+) 61.7 1 12007281 (1)
    methylmethanesulfonate 53.7 4 18582154 (1), 12944481 (1), 19126654 (1)
    camptothecin 34 1 12871905 (1)
    phosphatidylinositol 31.8 5 16036916 (2), 17431132 (1), 17442057 (1)
    mononucleotide 30.9 1 16542220 (1)
    hydroxyurea 28.9 8 18003706 (1), 12944481 (1), 14643437 (1)
    mitomycin c 28.6 3 12447395 (1), 15026416 (1)
    doxorubicin 16.9 3 15489221 (2)
    threonine 5.15 1 15604286 (1)
    etoposide 3.87 3 16452227 (2), 19647003 (1)

    Search CenterWatch for drugs/clinical trials and news about NBN

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NBN gene (2 alternative transcripts): 
    NM_002485.4  NM_001024688.1  

    Unigene Cluster for NBN:

    Nibrin
    Hs.492208  [show with all ESTs]
    Unigene Representative Sequence: NM_002485
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265433(uc003yej.1 uc011lgb.1) ENST00000396252(uc003yei.1)
    ENST00000409330 ENST00000474821 ENST00000520325 ENST00000519426 ENST00000517772
    ENST00000523444 ENST00000517337 ENST00000494804
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate NBN:
    hsa-miR-4287 hsa-miR-570 hsa-miR-1284 hsa-miR-138-1* hsa-miR-3662 hsa-miR-32* hsa-miR-2113 hsa-miR-103a-2*
    SwitchGear 3'UTR luciferase reporter plasmidNBN 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NBN
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    OriGene clones in human, mouse for NBN (see all 8)
    OriGene ORF clones in mouse, rat for NBN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NBN (NM_002485)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NBN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NBN
    Sirion Biotech Customized lentivirus for stable overexpression of NBN 
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    Additional mRNA sequence: 

    AF051334.1 AF058696.2 AK001017.1 AK223256.1 AK289848.1 AK312410.1 BC005293.1 BC016762.1 
    BC071590.1 BC108650.1 BC136802.1 BC136803.1 BC144413.1 BC146797.1 

    13 DOTS entries:

    DT.101982351  DT.99939139  DT.416359  DT.100782210  DT.100782211  DT.210723  DT.95070633  DT.92441035 
    DT.92441039  DT.95272366  DT.95272369  DT.91887448  DT.95272372 

    24/213 AceView cDNA sequences (see all 213):

    C01327 BU172525 AV716658 AA907134 AA904205 BU517247 C16277 BI962748 
    BQ427923 AU108053 BM661757 BM461758 CA391370 AA443007 AW779947 CB250418 
    BU680102 AU108055 AI565267 BM128313 BM690038 BG483074 BX490293 BU074617 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for NBN (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^
    SP1:                                      -     -     -                                                                                                         
    SP2:                                      -           -                                                                                                         
    SP3:                                      -           -           -                                                                                             
    SP4:                                      -     -     -           -     -     -     -                                                                           
    SP5:                                                                                                                                                  -         

    ExUns: 17 ^ 18a · 18b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for NBN

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NBN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCAGAAAA
    NBN Expression
    About this image


    See NBN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NBN

    SOURCE GeneReport for Unigene cluster: Hs.492208

    UniProtKB/Swiss-Prot: NBN_HUMAN, O60934
    Tissue specificity: Ubiquitous. Expressed at high levels in testis

        SABiosciences Expression via Pathway-Focused PCR Arrays including NBN (see all 6): 
              Cell Cycle in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              Telomeres & Telomerase in human mouse rat
              Cellular Senescence in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NBN
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NBN

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NBN gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nbn1 , 5 nibrin1, 5 77.88(n)1
    71.16(a)1
      4 (6.66 cM)5
    273541  NM_013752.31  NP_038780.31 
     159579255 
    chicken
    (Gallus gallus)
    Aves NBN1 nibrin 63.59(n)
    52.82(a)
      374246  NM_204337.1  NP_989668.1 
    lizard
    (Anolis carolinensis)
    Reptilia NBN6
    Uncharacterized protein
    47(a)
    1 ↔ 1
    4(21463102-21484645)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.95282 Xenopus laevis transcribed sequence with weak similarity more 73.27(n)    BX850409.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.172612 Transcribed sequence with weak similarity to protein more 72.68(n)    BI984731.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta nbs6
    nbs
    18(a)
    1 ↔ 1
    3L(9713514-9716294)


    ENSEMBL Gene Tree for NBN (if available)
    TreeFam Gene Tree for NBN (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1196 SNPs in NBN are shown (see all 1196)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0257954
    Breast cancer (BC)4--see VAR_0257952 L F mis40--------
    rs1219089741,2
    C,Fpathogenic191130954(-) ACATAA/C/TGTAGC 2 * Y stg11NA 4550
    rs347673641,2,4
    C,Fpathogenic191143426(-) CAGGAC/TGGCAG 2 R W mis15Minor allele frequency- T:0.00NA EU 5875
    rs617549661,2,4
    C,Fpathogenic191150487(+) TACAAT/CTGGAC 2 /I /V mis12Minor allele frequency- C:0.00NA EU 5839
    rs1048950301,2
    Cuntested191107375(-) AATTCC/GTATTT 1 -- ut310--------
    rs1048950321,2
    Cuntested191127612(-) TACTTC/TGGCTA 2 S L mis10--------
    rs1048950341,2
    C,Funtested191142780(-) TTTTAC/TTTTAA 1 -- int11Minor allele frequency- T:0.03NA 120
    rs1048950351,2
    Cuntested191143241(-) AGAATA/TAAAAA 1 -- int10--------
    rs1048950361,2
    C,Funtested191143283(-) TTAACG/CTATTT 1 -- int11Minor allele frequency- C:0.01EU 583
    rs617547961,2,4
    C,Funtested191143441(-) AAAATG/TTTGAT 2 V F mis11Minor allele frequency- T:0.00NA 4438

    HapMap Linkage Disequilibrium report for NBN (90945564 - 91015456 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NBN:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv891183CNV Gain21882294


    Human Gene Mutation Database (HGMD): NBN

    Locus Specific Mutation Databases (LSDB): NBN
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NBN
    DNA2.0 Custom Variant and Variant Library Synthesis for NBN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602667   
    OMIM disorders: 251260  
    UniProtKB/Swiss-Prot: NBN_HUMAN, O60934
  • Nijmegen breakage syndrome (NBS) [MIM:251260]: A disorder characterized by chromosomal instability,
    radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer,
    particularly to lymphoid malignancies. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast
    neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common
    type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated
    by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different
    families or even in the same case. Note=Disease susceptibility is associated with variations affecting the gene
    represented in this entry
  • Aplastic anemia (AA) [MIM:609135]: A form of anemia in which the bone marrow fails to produce adequate
    numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia.
    Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry
  • Note=Defects in NBN might play a role in the pathogenesis of childhood acute lymphoblastic leukemia (ALL)

  • 20/64 diseases for NBN (see all 64):    About MalaCards
    nijmegen breakage syndrome    non-hodgkin lymphoma, childhood    hodgkin lymphoma, childhood    gastrointestinal lymphoma
    breast cancer    porokeratosis    ataxia telangiectasia    hodgkin's lymphoma
    microcephaly    werner syndrome    hereditary breast cancer    acoustic neuroma
    hereditary pancreatitis    lynch syndrome    neuroma    pancytopenia
    non-hodgkin lymphoma    aplastic anemia    fanconi's anemia    lymphoblastic leukemia

    3 diseases from the University of Copenhagen DISEASES database for NBN:
    Nijmegen breakage syndrome     Microcephaly     Ataxia telangiectasia

    NBN for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/36 Novoseek inferred disease relationships for NBN gene (see all 36)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nijmegen breakage syndrome 99 115 19151620 (3), 9933573 (2), 10792024 (2), 16392640 (2) (see all 89)
    ataxia telangiectasia 90.5 23 16623700 (2), 15024084 (1), 17507690 (1), 19451272 (1) (see all 21)
    ataxia-telangiectasia-like disorder 89.3 4 12966088 (2), 15234984 (1), 18575580 (1)
    microcephaly 85.8 11 18593981 (1), 19345213 (1), 15033202 (1), 15451479 (1) (see all 8)
    chromosome fragility 71.1 2 10448147 (1), 11438675 (1)
    growth retardation 65.9 4 17981542 (1), 18593981 (1)
    genetic disorder 63.6 5 15994926 (1), 16467875 (1), 17189075 (1), 17537595 (1) (see all 5)
    fanconis anemia 62 1 11733219 (1)
    cancer 56.6 49 15185344 (4), 12508248 (3), 19452044 (3), 18073374 (2) (see all 33)
    chromosomal aberrations 55.5 8 14738145 (2), 12966088 (1), 11267829 (1), 10671697 (1) (see all 6)

    GeneTests: NBN
    GeneReviews: NBN
    Genetic Association Database (GAD): NBN
    Human Genome Epidemiology (HuGE) Navigator: NBN (111 documents)

    Export disorders for NBN gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NBN gene, integrated from 9 sources (see all 527):
    (articles sorted by number of sources associating them with NBN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. (PubMed id 9590180)1, 2, 3, 9 Varon R.... Reis A. (1998)
    2. Polymorphisms in DNA repair and metabolic genes in bladder cancer. (PubMed id 14688016)1, 2, 4 Sanyal S.... Hemminki K. (2004)
    3. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. (PubMed id 9590181)1, 2, 3 Carney J.P.... Petrini J.H.J. (1998)
    4. Polymorphisms and haplotypes of the NBS1 gene in childhood acute leukaemia. (PubMed id 18691878)1, 4, 9 Mosor M....Nowak J. (2008)
    5. Mutational inactivation of the nijmegen breakage syndrome gene (NBS1) in glioblastomas is associated with multiple TP53 mutations. (PubMed id 19151620)1, 4, 9 Watanabe T....Ohgaki H. (2009)
    6. Importin KPNA2 is required for proper nuclear localization and multiple functions of NBS1. (PubMed id 16188882)1, 2, 9 Tseng S.-F.... Teng S.-C. (2005)
    7. ATM-dependent phosphorylation of nibrin in response to radiation exposure. (PubMed id 10802669)1, 2, 9 Gatei M.... Khanna K.K. (2000)
    8. Variations in the NBN/NBS1 gene and the risk of breas t cancer in non-BRCA1/2 French Canadian families with high risk of breast cance r. (PubMed id 19523210)1, 4, 9 Desjardins S....Durocher F. (2009)
    9. High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients. (PubMed id 19338682)1, 4, 9 Suspitsin E.N....Imyanitov E.N. (2009)
    10. Mutations in the Nijmegen breakage syndrome gene in medulloblastomas. (PubMed id 18593981)1, 4, 9 Huang J....Ohgaki H. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4683 HGNC: 7652 AceView: NBS1 Ensembl:ENSG00000104320 euGenes: HUgn4683
    ECgene: NBN Kegg: 4683 H-InvDB: NBN

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NBN Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NBN Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NBN
    NIEHS-SNPshttp://egp.gs.washington.edu/data/nbs1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NBN gene:
    Search GeneIP for patents involving NBN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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