NBN Gene
protein-coding GIFtS: 65
GCID: GC08M091015
|
|
nibrin(Previous name: Nijmegen breakage syndrome 1 (nibrin) )
(Previous symbols: NBS, NBS1)
| |
Aliases
for NBN gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Nibrin1 | | Nijmegen Breakage Syndrome 1 (Nibrin)1 2 | | NBS1 2 3 5 | | Cell Cycle Regulatory Protein P952 3 | | NBS11 2 3 5 | | P952 3 | | AT-V11 2 | | P95 Protein Of The MRE11/RAD50 Complex2 | | AT-V21 2 | | Nijmegen Breakage Syndrome Protein 13 | | ATV1 2 | | |
Export aliases for NBN gene to outside databasesPrevious GC identifer: GC08M086155 |
Summaries
for NBN gene(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:
Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instabilitysyndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encodedprotein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This geneproduct is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation.(provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: NBN_HUMAN, O60934Function: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNAdamage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNArecombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The complex possessessingle-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided byMRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN modulate the DNA damage signalsensing by recruiting PI3/PI4-kinase family members ATM, ATR, and probably DNA-PKcs to the DNA damage sites andactivating their functions. It can also recruit MRE11 and RAD50 to the proximity of DSBs by an interaction with thehistone H2AX. NBN also functions in telomere length maintenance by generating the 3' overhang which serves as a primerfor telomerase dependent telomere elongation. NBN is a major player in the control of intra-S-phase checkpoint andthere is some evidence that NBN is involved in G1 and G2 checkpoints. The roles of NBS1/MRN encompass DNA damagesensor, signal transducer, and effector, which enable cells to maintain DNA integrity and genomic stability. Forms acomplex with RBBP8 to link DNA double-strand break sensing to resection
Gene Wiki entry for NBN (Nibrin)
|
Genomic Views
for NBN 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000008.10 NC_018919.1 NT_008046.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the NBN gene promoter:
TBP p53 AP-1 STAT3
Other transcription factors
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-q24NBN Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
|
Proteins
for NBN gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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. Componentof 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, KPNA2and TERF2. Interacts with RBBP8; the interaction links the role of the MRN complex in DNA double-strand break sensingto resection
Subcellular location: Nucleus (By similarity). Chromosome, telomere (By similarity). Note=Localizes to discrete nuclearfoci after treatment with genotoxic agents (By similarity)
Miscellaneous: In case of infection by adenovirus E4, the MRN complex is inactivated and degraded by viraloncoproteins, thereby preventing concatenation of viral genomes in infected cells
Sequence caution: Sequence=AAI08651.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-Asequence starting in position 550; Sequence=CAH56160.1; Type=Erroneous initiation; Note=Translation N-terminallyextended;
Secondary accessions: B2R626 B2RNC5 O60672 Q32NF7 Q53FM6 Q63HR6 Q7LDM2Explore the universe of human proteins at neXtProt for NBN: NX_O60934
Post-translational modifications:
Phosphorylated by ATM in response of ionizing radiation, and such phosphorylation is responsible intra-S phasecheckpoint control and telomere maintenance1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O60934
NBN Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_002476.2
ENSEMBL proteins: ENSP00000265433 ENSP00000379551 ENSP00000386924 ENSP00000430983 ENSP00000428717 ENSP00000428252 ENSP00000429971 Reactome Protein details: O60934
Human Recombinant Protein Products:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
NBN for ontologies About GeneDecksing
NBN Antibody Products:
Assay Products for NBN: |
Protein
Domains /
Families
for NBN gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
NBN for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O60934ProtoNet protein and cluster: O60934 3 Blocks protein families: IPB000253 Forkhead-associated (FHA) IPB001357 BRCT domain IPB013908 DNA repair Nbs1
UniProtKB/Swiss-Prot: NBN_HUMAN, O60934Domain: The FHA and BRCT domains are likely to have a crucial role for both binding to histone H2AFX and forrelocalization of MRE11/RAD50 complex to the vicinity of DNA damageDomain: The C-terminal domain contains a MRE11-binding site, and this interaction is required for the nuclearlocalization of the MRN complexDomain: The EEXXXDDL motif at the C-terminus is required for the interaction with ATM and its recruitment to sites ofDNA damage and promote the phosphorylation of ATM substrates, leading to the events of DNA damage responseSimilarity: Contains 1 BRCT domainSimilarity: Contains 1 FHA domain |
Function
for NBN gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: NBN_HUMAN, O60934Function: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNAdamage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNArecombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The complex possessessingle-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided byMRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN modulate the DNA damage signalsensing by recruiting PI3/PI4-kinase family members ATM, ATR, and probably DNA-PKcs to the DNA damage sites andactivating their functions. It can also recruit MRE11 and RAD50 to the proximity of DSBs by an interaction with thehistone H2AX. NBN also functions in telomere length maintenance by generating the 3' overhang which serves as a primerfor telomerase dependent telomere elongation. NBN is a major player in the control of intra-S-phase checkpoint andthere is some evidence that NBN is involved in G1 and G2 checkpoints. The roles of NBS1/MRN encompass DNA damagesensor, signal transducer, and effector, which enable cells to maintain DNA integrity and genomic stability. Forms acomplex with RBBP8 to link DNA double-strand break sensing to resection
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NBN (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, 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 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NBN |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
NBN for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for NBN:
Animal Models:
Mouse knock-outs for NBN: Nbntm3Jpt Nbntm1Nus Nbntm2.1Jpt Nbntm2.1Zqw Nbntm1.1Md Nbntm1Zqw
Nbntm1Jpt Nbntm1Xu
12 MGI mutant phenotypes (inferred from 11 alleles ) (MGI details for Nbn):
NBN for phenotypes About GeneDecksing
|
Pathways & Interactions
for NBN gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/14 super-pathways (see all 14) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Recruitment of repair and signaling proteins to double-strand breaks | | | 2 | Homologous Recombination Repair | | | 3 | DNA damage ATM/ATR regulation of G1/S checkpoint | | | 4 | Homologous recombination | | | 5 | Non-homologous end-joining | |
Pathway sources
See GeneCards unified pathways
Show all pathways
3 EMD Millipore Pathways for NBN
2 
Cell Signaling Technology (CST) Pathways for NBN
3  GeneGo (Thomson Reuters) Pathways for NBN
5  BioSystems Pathways for NBN
5/12 
Reactome Pathways for NBN (see all 12)
1 
Kegg Pathway (Kegg details for NBN):
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)
5/797 Interacting proteins for NBN (O609341, 2, 3 ENSP000002654334) via UniProtKB, MINT, STRING, and/or I2D (see all 797)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| MDC1 | Q146761, 2, 3, ENSP000003655884 | EBI-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 | | MRE11A | P499591, 2, 3, ENSP000003258634 | EBI-494844,EBI-396513 MINT-6805435 MINT-6805527 MINT-6805327 MINT-7906622 MINT-6805250 MINT-6805281 MINT-7906581 MINT-7947479 MINT-6805304 MINT-7914712 MINT-7945693 MINT-6805376 MINT-7906600 I2D:
score=7 STRING: ENSP00000325863 | | RAD50 | Q928782, 3, ENSP000002653354 | MINT-6805435 MINT-6805527 MINT-7231018 MINT-6805327 MINT-7906622 MINT-6805250 MINT-6805281 MINT-7906581 MINT-7906646 MINT-7947479 MINT-6805304 MINT-7945693 MINT-6805376 MINT-7906600 I2D:
score=6 STRING: ENSP00000265335 | | HIST1H3A | P684313, ENSP000003502754 | I2D:
score=1 STRING: ENSP00000350275 | | HIST1H3B | P684313 | I2D:
score=1 |
About this table
Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25): About this table
NBN for ontologies About GeneDecksing
|
Drugs & Compounds
for NBN gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, 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 Tocris compounds for NBN
10/13 Novoseek chemical compound relationships for NBN gene (see all 13) About this table
Search CenterWatch for drugs/clinical trials and news about NBN
|
Transcripts
for NBN gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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,
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_00248510 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
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NBN (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, 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 |
Additional cDNA 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): AW149187 AU108055 CD367809 BM690038 BM978914 BQ022298 BX640816 AF051334 BG292394 BG194211 BM128313 BI962748 BQ574642 C01327 BU074617 CD673610 BX490293 C16277 BU517247 CA391370 BM782286 BM128531 AI926415 CA952884
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
|
Expression
for NBN gene
(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
CGAP TAG: CTGCAGAAAA
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, O60934Tissue specificity: Ubiquitous. Expressed at high levels in testis
SABiosciences Expression via Pathway-Focused PCR Arrays including NBN (see all 6):
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NBN
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NBN | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NBN | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NBN | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NBN |
Orthologs
for NBN gene
(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 eukaryotes.
Orthologs for NBN gene from 8/20 species (see all 20) 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 |
-- |
48(a) |
1 ↔ 1 |
4(21463561-21484645) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.95282 |
Xenopus laevis transcribed sequence with weak similarity to protein refNP_002476.1 (H.sapiens) nibrin [Homo sapiens] less |
73.27(n) |
|
BX850409.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.172612 |
Transcribed sequence with weak similarity to protein pirT00393 (H.sapiens) T00393 Nijmegen breakage syndrome protein NBS1 - human less |
72.68(n) |
|
BI984731.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
nbs6 |
nbs |
19(a) |
1 ↔ 1 |
3L(9713514-9716294) |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
NBS16 |
nijmegen breakage syndrome 1 protein |
20(a) |
1 ↔ 1 |
3(576378-579559) |
rice
(Oryza sativa) |
Liliopsida |
-- |
FHA domain containing protein, putative, expressed... |
19(a) |
1 ↔ 1 |
10(18362940-18366832) |
ENSEMBL Gene Tree for NBN (if available)
TreeFam Gene Tree for NBN (if available) |
Paralogs
for NBN gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for NBN gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 8 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for NBN (90945564 - 91015456 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for NBN: --
Human Gene Mutation Database (HGMD): NBN
Locus Specific Mutation Databases (LSDB): NBN
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NBN |
|
Disorders
/ Diseases
for NBN gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
NBN for disorders About GeneDecksing
OMIM gene information: 602667
OMIM disorders: 251260
UniProtKB/Swiss-Prot: NBN_HUMAN, O60934
Defects in NBN are the cause of Nijmegen breakage syndrome (NBS) [MIM:251260]. NBS is an autosomal recessivesyndrome 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 susceptibility to breast cancer (BC) [MIM:114480]. A common malignancyoriginating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasiveductal 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 thanone locus can be involved in different families or even in the same case Defects in NBN may be associated with aplastic anemia (AA) [MIM:609135]. A form of anemia in which the bonemarrow fails to produce adequate numbers of peripheral blood elements. It is characterized by peripheral pancytopeniaand marrow hypoplasia Note=Defects in NBN might play a role in the pathogenesis of childhood acute lymphoblastic leukemia (ALL)
20/73  diseases for NBN (see all 73): About MalaCardsnijmegen breakage syndrome ataxia-telangiectasia-like disorder microcephaly diffuse large b-cell lymphoma
non-hodgkin lymphoma immunodeficiency non-hodgkin lymphoma, childhood ataxia telangiectasia
dna topoisomerase i hodgkin lymphoma, childhood b-cell lymphomas acoustic neuroma
hodgkin's lymphoma lymphoblastic leukemia fanconi's anemia werner syndrome
leukemia/lymphoma porokeratosis neuroma leukemia/lymphoma, t-cell
3 diseases from the University of Copenhagen DISEASES database for NBN:Nijmegen breakage syndrome Microcephaly Ataxia telangiectasia 10/36 Novoseek 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
Nijmegen Breakage Syndrome
Genetic Association Database (GAD): NBN
Human Genome Epidemiology (HuGE) Navigator: NBN (111 documents)
Export disorders for NBN gene to outside databases
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Publications
for NBN gene (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 510):
(articles sorted by number of sources associating them with NBN) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- Polymorphisms in DNA repair and metabolic genes in bladder cancer. (PubMed id 14688016)1, 2, 4 Sanyal S.... Hemminki K. (2004)
- 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)
- 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)
- ATM-dependent phosphorylation of nibrin in response to radiation exposure. (PubMed id 10802669)1, 2, 9 Gatei M.... Khanna K.K. (2000)
- Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland. (PubMed id 15185344)1, 4, 9 Steffen J....Sperling K. (2004)
- Germline 657del5 mutation in the NBS1 gene in patients with malignant melanoma of the skin. (PubMed id 12883362)1, 4, 9 Debniak T....Lubinski J. (2003)
- Germline 657del5 mutation in the NBS1 gene in breast cancer patients. (PubMed id 12845677)1, 4, 9 Gorski B....Lubinski J. (2003)
- NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain. (PubMed id 12419185)1, 2, 9 Kobayashi J.... Komatsu K. (2002)
- Mutations and molecular variants of the NBS1 gene in non-Hodgkin lymphoma. (PubMed id 12353271)1, 4, 9 Cerosaletti K.M....Concannon P. (2002)
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External Searches for NBN gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing NBN gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing NBN gene
(According to HUGE)
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Specialized Databases showing NBN gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
| Name | Description |
| PharmGKB entry for NBN | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for NBN | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NBN | | NIEHS-SNPs | http://egp.gs.washington.edu/data/nbs1/ |
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| 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
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Products
for NBN gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for NBN | | OriGene shRNA RFP for NBN | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NBN | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NBN | | | OriGene Protein Over-expression Lysate for NBN | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for NBN | | OriGene 3'-UTR Clone for NBN | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NBN | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NBN | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat NBN | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NBN | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NBN | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NBN | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NBN | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NBN |
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| | | | Search Tocris compounds for NBN |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NBN |
|  |  |  | | | | ThermoFisher Antibodies for NBN |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NBN |
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