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NBN Gene

protein-coding   GIFtS: 66

GC08M091015
nibrin
(Previous name: Nijmegen breakage syndrome 1 (nibrin) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: NBS, NBS1)
Services    

Aliases &
Descriptions
for NBN

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
AT-V1 1, 2
AT-V2 1, 2
ATV 1, 2
FLJ10155 2
MGC87362 2
NBS 2, 3
NBS1 2, 3
P95 2, 3
nibrin 2
Descriptions
Cell cycle regulatory protein p95 2, 3
Nijmegen breakage syndrome 1 (nibrin) 1, 2
Nijmegen breakage syndrome protein 1 3
p95 protein of the MRE11/RAD50 complex 2
External Ids
HGNC: 76521
Entrez Gene: 46832
UniProtKB: O609343
Ensembl: ENSG000001043207
Search outside databases for aliases for NBN gene

Summaries
for NBN

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

 EntrezGene summary for NBN:
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]

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

Gene Wiki entry for NBN (Nibrin)

Genomic Location
for NBN

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the NBN gene  

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)

GeneLoc gene densities for chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M091015:     (about GC identifiers)

Start:
 91,014,740 bp from pter
End:
 91,066,075 bp from pter
Size:
 51,336 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000008.9  NT_008046.15  

Proteins
for NBN

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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, KPNA2 and TERF2
Subcellular location: Nucleus (By similarity). 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;
Secondary accessions: B2R626 O60672 Q32NF7 Q53FM6 Q63HR6 Q7LDM2

Post-translational modifications:

  • Phosphorylated by ATM in response of ionizing radiation, and such phosphorylation is responsible
    intra-S phase checkpoint control and telomere maintenance1
  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (2 alternative transcripts): 
    NP_001019859.1  NP_002476.2  


    ENSEMBL proteins: 
    ENSP00000386924 ENSP00000379551 ENSP00000265433 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (p95 NBS1)
    Human Recombinant Proteins from Abnova (NBN)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5/10 Gene Ontology (GO) cellular component terms (links to tree view) (see all 10 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000784 nuclear chromosome, telomeric region IDA10888888
    GO:0005622 intracellular IEA--
    GO:0005634 nucleus IEA--
    GO:0005654 nucleoplasm EXP12419185
    GO:0005657 replication fork IEA--
    About this table

    Antibodies for NBN: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of NBN
    Sigma-Aldrich Antibody Arrays and Antibodies for NBN
    R&D Systems Antibodies for NBN (Nbs1)
    Cell Signaling Technology (CST) Antibodies for NBN  (NBS1)
    Antibodies from Abcam (p95 NBS1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (NBN)
    Novus Biologicals Antibodies for NBN

    Assays for NBN: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for NBN

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro domains/families:
     IPR016592 Nibrin_met
     IPR000253 FHA
     IPR013908 DNA-repair_Nbs1_C
     IPR001357 BRCT


       GeneDecks  NBN for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry O60934

    ProtoNet protein and cluster: O60934

    3 Blocks protein families:
    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

    Gene Function
    for NBN

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (NBN)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (NBN)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_002485

                  Applied Biosystems Silencer® siRNAs for NBN

                  Sigma-Aldrich siRNA and siRNA Panels for NBN  
                         Sigma-Aldrich shRNA Panels and shRNA for NBN  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001024688
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001024688
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001024688 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_002485

    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

    13 MGI mutant phenotypes (inferred from 11 alleles) (MGI details for Nbn):

    behavior/neurologicalcellularcraniofacialembryogenesisendocrine/exocrine gland
    growth/sizehematopoietic systemimmune systemlethality-prenatal/perinatallife span-post-weaning/aging
    nervous systemreproductive systemtumorigenesis

    3 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003684contributes to damaged DNA binding IC9590180
    GO:0008134 transcription factor binding IPI11486038
    GO:0047485 protein N-terminus binding IPI9590181
    About this table

    Pathways & Interactions
    for NBN

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    5 Invitrogen iPath™ Online BioAtlas - Pathways for NBN (Maps provided by GeneGo):
     S-phase DNA damage response
     ATM/ATR regulation of G1/S checkpoint
     Role of Brca1 and Brca2 in DNA repair
     ATM/ATR regulation of G2/M checkpoint
     ATM-H2AX-NFBD1 DNA damage response

       GeneDecks  NBN for the pathways selected above  
    About GeneDecksing

    3 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

       GeneDecks  NBN for the pathways selected above  
    About GeneDecksing

    4 Sigma-Aldrich "Your Favorite Gene" Pathways for  NBN  (Your Favorite Gene powered by Ingenuity) 
     Role of CHK Proteins in Cell Cycle Checkpoint Control
     Role of BRCA1 in DNA Damage Response
     Molecular Mechanisms of Cancer
     ATM Signaling

       GeneDecks  NBN for the pathways selected above  
    About GeneDecksing

    1 Cell Signaling Technology (CST) Pathway for NBN: 
     Cell Cycle Control: G2/M DNA Damage Checkpoint

       GeneDecks  NBN for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for NBN):
     hsa03440 Homologous recombination

       GeneDecks  NBN for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  NBN 


    5/36 Interacting proteins for NBN (O609341, 2 ENSP000002654333) via UniProtKB, MINT, and/or STRING (see all 36 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206385Q146761, 2, ENSP000003728793EBI-494844, EBI-495644 MINT-6805462 MINT-6805435 MINT-6805527 MINT-6805327 MINT-6805493 MINT-6805250 MINT-6805569 MINT-6805281 MINT-6805304 MINT-6805376 MINT-6805510 STRING (score=.952)
    RAD50Q928782, ENSP000003681003MINT-6805304 MINT-6805435 MINT-6805527 MINT-6805376 MINT-6805327 MINT-6805250 MINT-6805281 STRING (score=.999)
    CHEK2O960172, ENSP000003720233MINT-49652 MINT-49650 STRING (score=.977)
    MRE11AP499591, 2, ENSP000003258633EBI-494844, EBI-396513 MINT-6805435 MINT-6805527 MINT-6805327 MINT-6805250 MINT-6805281 MINT-6805304 MINT-6805376 EBI-494844, EBI-396513 MINT-6805435 MINT-6805527 MINT-6805327 MINT-6805250 MINT-6805281 MINT-6805304 MINT-6805376 STRING (score=.999)
    H2AFXP161041, 2, ENSP000003643103EBI-494844, EBI-494830 MINT-6805304 EBI-494844, EBI-494830 MINT-6805304 STRING (score=.999)
    MDC1Q146761, 2EBI-494844, EBI-495644 MINT-6805462 MINT-6805435 MINT-6805527 MINT-6805327 MINT-6805493 MINT-6805250 MINT-6805569 MINT-6805281 MINT-6805304 MINT-6805376 MINT-6805510 EBI-494844, EBI-495644 MINT-6805462 MINT-6805435 MINT-6805527 MINT-6805327 MINT-6805493 MINT-6805250 MINT-6805569 MINT-6805281 MINT-6805304 MINT-6805376 MINT-6805510
    About this table

    5/17 Gene Ontology (GO) biological process terms (links to tree view) (see all 17 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000077 DNA damage checkpoint IDA12529385
    GO:0000723 telomere maintenance IMP11448772
    GO:0001701 in utero embryonic development IEA--
    GO:0001832 blastocyst growth IEA--
    GO:0006302 double-strand break repair IDA9590181
    About this table

    Drugs & Compounds
    for NBN

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for NBN
    4 Novoseek chemical compound relationships for NBN gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    tin(2+) 63.92 1 12007281 (1)
    mononucleotide 32.65 1 16542220 (1)
    phosphatidylinositol 30.78 5 16036916 (2), 17431132 (1), 17442057 (1)
    threonine 0.00 1 15604286 (1)
    About this table


    Transcripts
    for NBN

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (NBN)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (NBN)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_002485

                  Sigma-Aldrich siRNA and siRNA Panels for NBN  
                         Sigma-Aldrich shRNA Panels and shRNA for NBN  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_002485  

    REFSEQ mRNAs for NBN gene (2 alternative transcripts): 

    NM_001024688.1   NM_002485.4   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_002485  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001024688
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001024688
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001024688 

    Additional cDNA sequence: 

    AF051334.1 AF058696.2 AK001017.1 AK223256.1 AK289848.1 AK312410.1 BC005293.1 BC016762.1 
    BC040519.1 BC071590.1 BC108650.1 BC136802.1 BC136803.1 BC144413.1 BC146797.1 BX640816.1 

    13 DOTS entries:

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

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

    BU620472 BU680102 BC071590 BU517247 AA831405 CD367809 BF061834 BQ574642 
    AI565267 BI962748 C16277 BM690038 H98655 AU108055 AW149187 BM661757 
    T11340 AA907134 BM128313 AU108053 BQ427923 BX640816 BM978914 CA952884 

    highest scoring ESTs for NBN:

    AF058696 AF051334 AL713597 BC005293 BC016762 BC040519 BC071590 BF028917 BG109073 BM461758 

    Unigene Cluster for NBN:

    Nibrin
    Hs.492208  [show with all ESTs]
    Unigene Representative Sequence: BX640816


    GeneLoc Exon Structure

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

    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:                  

    About this scheme

    ECgene alternative splicing isoforms for NBN

    3 Ensembl transcripts including schematic representations:
    ENST00000409330  ENST00000396252  ENST00000265433  

    Expression
    for NBN

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    NBN expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for NBN

    1 / 2 / 3

    10 probe-sets matching NBN gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    		35153_at2, 3 U95-A 1 1.00 1.00 0.42 1.21 AF058696 1.00 1.00 1.00 1

    		89658_at*2, 3 U95-E 1 -- -- 0.90 0.79 H69429 0.20 1.00 0.72 1

    		202906_s_at2 U133-A 1 1.00 1.00 -- -- -- -- -- -- --

    		202905_x_at2, 3 U133-A 1 1.00 1.00 -- -- AI796269 0.60 1.00 0.82 1

    		202907_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_002485 0.60 1.00 0.82 1

    		217299_s_at2, 3 U133-A 1 1.00 1.00 -- -- AK001017 0.40 1.00 0.76 1

    		202906_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		202905_x_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		202907_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		217299_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CTGCAGAAAA

    SOURCE GeneReport for Unigene cluster: Hs.492208

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

    Orthologs
    for NBN

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for NBN gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    chimpanzee
    (Pan troglodytes)    		 NBN1   -- nibrin 98.59(n)
    98.14(a)    		 464278  XM_519851.2  XP_519851.2 
    cow
    (Bos taurus)    		 NBN1   -- nibrin 89.49(n)
    86.58(a)    		 522943  NM_001075837.1  NP_001069305.1 
    rat
    (Rattus norvegicus)    		 Nbn1   -- nibrin 78.1(n)
    69.83(a)    		 85482  NM_138873.1  NP_620228.1 
    mouse
    (Mus musculus)    		 Nbn1, 5 45
    		 nibrin1, 5 78.22(n)1
    71.89(a)1    		 273541  NM_013752.21  NP_038780.21 
     AB0169885  AF0766875  (see all 19)
    chicken
    (Gallus gallus)    		 NBN1   -- nibrin 63.59(n)
    52.82(a)    		 374246  NM_204337.1  NP_989668.1 
    About this table        Species with no ortholog for NBN

    ENSEMBL Gene Tree for NBN

    Paralogs
    for NBN

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    		  --

    SNPs/Variants
    for NBN

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/483 NCBI SNPs in NBN are shown (see all 483 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 242)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 8 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs10630531,2
    		A,C,F,H,O91016713(-) TAAATG/ATACGT 1 -- ut3121Minor allele frequency- A:0.34NS MN EU EA WA NA 2938
    --
    rs18057941,2
    		A,C,F,H,O91059655(+) GGACTC/GAACTG 1 E/Q mis1 ese333Minor allele frequency- N:0.00NA EA MN CSAM NS EU WA 5096
    rs20218821,2
    		A,C,F,H91014690(+) tatgaC/Tgtagg 1 -- ng515Minor allele frequency- T:0.31EU EA WA NS 600
    rs27353831,2
    		C,F,H,O91016445(+) TAAGAC/GTACAG 1 -- ut3118Minor allele frequency- G:0.37EA NS NA EU WA 2716
    rs10630541,2
    		C,F,H,O91015777(-) ACAGAA/CATTGG 1 -- ut3111Minor allele frequency- C:0.36NS MN NA EA EU WA 2176
    rs20218811,2
    		A,C,F,H91014661(+) gagtaC/Tattta 1 -- ng5111Minor allele frequency- T:0.29NS EU WA NA 654
    rs99951,2
    		A,C,F,H91015232(-) atataT/Cgtatt 1 -- ut31 ese320Minor allele frequency- C:0.32NS MN EU EA WA NA 1678
    rs133129761,2
    		C,F,H91016670(-) GTCCTA/GGCTAC 1 -- ut315Minor allele frequency- G:0.02NS EU EA WA 596
    rs30262681,2
    		C,F,H91035004(+) GGGTGT/CAGCAG 1 A/T mis1 ese310Minor allele frequency- C:0.00NS EU EA WA 1264
    rs133129811,2
    		C,F,H91016229(-) TTCCTA/GCTTAT 1 -- ut31 ese38Minor allele frequency- G:0.07NS EU EA WA NA 730
    About this table

    HapMap Linkage Disequilibrium images for NBN (up to first 250kb)

    Disorders & Mutations
    for NBN

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 602667

    UniProtKB/Swiss-Prot: NBN_HUMAN, O60934
  • Defects in NBN are the cause of Nijmegen breakage syndrome (NBS) [MIM:251260]. NBS is an
    autosomal recessive syndrome characterized by chromosomal instability, radiation sensitivity,
    microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to
    lymphoid malignancies
  • Defects in NBN are a cause of genetic susceptibility to breast cancer (BC) [MIM:114480].
    BC is an extremely common malignancy, affecting one in eight women during their lifetime. A
    positive family history has been identified as major contributor to risk of development of the
    disease, and this link is striking for early-onset breast cancer
  • Defects in NBN may be associated with aplastic anemia [MIM:609135]. Aplastic anemia is a
    disease of bone-marrow failure characterized by peripheral pancytopenia and marrow hypoplasia.
    Most of the cases of aplastic anemia are idiopathic, some are familial and some are due to a viral
    infection or to exposure to chemicals and radiation
  • Defects in NBN might play a role in the pathogenesis of childhood acute lymphoblastic
    leukemia (ALL)

    • 10/36 Novoseek disease relationships for NBN gene (see all 36 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    nijmegen breakage syndrome 98.99 110 19151620 (3), 9933573 (2), 10792024 (2), 16392640 (2) (see all 86)
    ataxia telangiectasia 91.17 23 16623700 (2), 15024084 (1), 17507690 (1), 19451272 (1) (see all 21)
    ataxia-telangiectasia-like disorder 90.35 4 12966088 (2), 15234984 (1), 18575580 (1)
    microcephaly 85.52 9 18593981 (1), 15033202 (1), 15451479 (1), 16415040 (1) (see all 7)
    chromosome fragility 72.64 2 10448147 (1), 11438675 (1)
    growth retardation 65.60 4 17981542 (1), 18593981 (1)
    fanconis anemia 63.73 1 11733219 (1)
    genetic disorder 63.70 5 15994926 (1), 16467875 (1), 17189075 (1), 17537595 (1) (see all 5)
    chromosomal aberrations 56.96 8 14738145 (2), 12966088 (1), 11267829 (1), 10671697 (1) (see all 6)
    cancer 54.63 48 15185344 (4), 12508248 (3), 19452044 (3), 18073374 (2) (see all 32)
    About this table

    GeneTests: NBN
    Nijmegen Breakage Syndrome

    Human Gene Mutation Database: NBN
    Genetic Association Database: NBN
    Human Genome Epidemiology Navigator: NBN (64 documents)

    Medical News
    for NBN

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for NBN

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

    		10/382 PubMed articles for NBN gene (see all 382 ):

    Search for NBN

    (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)

    Genome Databases showing NBN

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

    Other Databases showing NBN

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing NBN

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for NBN Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.genetests.org/query?gene=NBN
    NIEHS-SNPshttp://egp.gs.washington.edu/data/nbs1/

    Licensable Technologies
    for NBN

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for NBN

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for NBN:
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