About   Help   FAQ
Nbn
Gene Detail
 Symbol
Name
ID
Nbn
nibrin
MGI:1351625
Synonyms Nbs1
Feature Type protein coding gene
Genetic Map
Chromosome 4
6.66 cM, cytoband A
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr4:15957925-15992589 bp, + strand
From VEGA annotation of GRCm38

  34665 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1858  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: nibrin, animal type
Gene Tree: Nbn

Human
homologs
Human Homolog NBN, nibrin
NCBI Gene ID 4683
neXtProt AC  NX_O60934
Human Synonyms  ATV, AT-V1, AT-V2, NBS, NBS1, P95
Human Chr (Location)  8q21; chr8:89933336-89984724 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human NBN
Alleles
and
phenotypes
All alleles(26) : Gene trapped(14) Targeted(12)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous targeted mutations exhibit phenotypes ranging from impaired extraembryonic tissue growth and early embryonic death to growth retardation, lymphoid defects, lymphoma susceptibility, and failure of oogenesis. Null heterozygotes are cancer prone.
 
Human Diseases Modeled Using Mouse Nbn (1)    Alleles Annotated to Human Diseases(7)   
Gene Ontology
(GO)
classifications
All GO classifications: (38 annotations)
Process blastocyst growth, cell cycle, ...
Component chromosome, chromosome, telomeric region, ...
Function ATP-dependent DNA helicase activity, damaged DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (14)    Tissues (14)    Images (2)
Theiler Stages: 17, 23, 28
Assay TypeResults
RNA in situ 13
RT-PCR 1
cDNA source data(9)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(12) Genomic(1) cDNA(9) Primer pair(2)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000004636 (Evidence)
Ensembl Gene ModelENSMUSG00000028224 (Evidence)
Entrez Gene27354 (Evidence)
DFCITC1577421
DoTSDT.101740671, DT.526278
Consensus CDS ProjectCCDS17986.1
International Mouse Knockout Project StatusNbn
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000004636 VEGA Gene Model | MGI Sequence Detail 34665 C57BL/6J ±  kb
transcript OTTMUST00000010463 VEGA | MGI Sequence Detail 2533 Not Applicable 
polypeptide OTTMUSP00000004959 VEGA | MGI Sequence Detail 751 Not Applicable 

For the selected sequences
All sequences(38) RefSeq(6) UniProt(2)
Polymorphisms SNPs within 2kb(130 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001357 BRCT domain
InterPro IPR013908 DNA repair Nbs1, C-terminal
InterPro IPR000253 Forkhead-associated (FHA) domain
InterPro IPR016592 Nibrin
InterPro IPR008984 SMAD/FHA domain
Protein Ontology PR:000011014 nibrin
References (Earliest) J:59119 Vissinga CS, et al., Identification, characterization, and mapping of a mouse homolog of the gene mutated in Nijmegen breakage syndrome. Cytogenet Cell Genet. 1999;87(1-2):80-4
(Latest) J:206873 Bruhn C, et al., The essential function of the MRN complex in the resolution of endogenous replication intermediates. Cell Rep. 2014 Jan 16;6(1):182-95
All references(80)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/15/2014
MGI 5.18
The Jackson Laboratory