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Nbn Gene Detail
Summary
  • Symbol
    Nbn
  • Name
    nibrin
  • Synonyms
    Nbs1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351625
    NCBI Gene: 27354
  • Gene Overview
    MyGene.info: NBN
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:15957925-15992589 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 6.66 cM, cytoband A
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    130 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1351625
protein coding gene Chr4:15957586-15992589 (.)
129S1/SvImJ MGP_129S1SvImJ_G0028074
protein coding gene Chr4:12852700-12893388 (+)
A/J MGP_AJ_G0028032
protein coding gene Chr4:12508738-12543230 (+)
AKR/J MGP_AKRJ_G0027997
protein coding gene Chr4:12739617-12775614 (+)
BALB/cJ MGP_BALBcJ_G0028043
protein coding gene Chr4:12448186-12483301 (+)
C3H/HeJ MGP_C3HHeJ_G0027773
protein coding gene Chr4:12849249-12885221 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028486
protein coding gene Chr4:13373481-13410714 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025828
protein coding gene Chr4:11695531-11731436 (+)
CAST/EiJ MGP_CASTEiJ_G0027228
protein coding gene Chr4:12688063-12725962 (+)
CBA/J MGP_CBAJ_G0027746
protein coding gene Chr4:13695254-13734466 (+)
DBA/2J MGP_DBA2J_G0027889
protein coding gene Chr4:12343578-12380696 (+)
FVB/NJ MGP_FVBNJ_G0027855
protein coding gene Chr4:12111834-12147093 (+)
LP/J MGP_LPJ_G0027998
protein coding gene Chr4:12890224-12927202 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027888
protein coding gene Chr4:14045468-14084599 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028545
protein coding gene Chr4:12717845-12755377 (+)
PWK/PhJ MGP_PWKPhJ_G0026948
protein coding gene Chr4:12322166-12357615 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026777
protein coding gene Chr4:12589607-12627069 (+)
WSB/EiJ MGP_WSBEiJ_G0027305
protein coding gene Chr4:12748836-12785453 (+)



Homology
more
  • Human Ortholog
    NBN, nibrin
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NBN, nibrin
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ATV, AT-V1, AT-V2, NBS, NBS1, P95
  • Links
    NCBI Gene ID: 4683
    neXtProt AC: NX_O60934
    UniProt: O60934

  • Chr Location
    8q21.3; chr8:89933336-89984733 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Nbn mouse models; 3 with human NBN associations

Human Disease Mouse Models
      
IDs
View 7 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    7 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    78 phenotypes from 11 alleles in 9 genetic backgrounds
    23 phenotypes from multigenic genotypes
    49 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028224 Ensembl Gene Model | MGI Sequence Detail 34665 C57BL/6J ±  kb
    transcript ENSMUST00000029879 Ensembl | MGI Sequence Detail 2533 Not Applicable  
    polypeptide ENSMUSP00000029879 Ensembl | MGI Sequence Detail 751 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 13
      Genomic 1
      cDNA 10
      Primer pair 2

      Microarray probesets 3
    References
    more
    • Summaries
      All 94
      Developmental Gene Expression 7
      Diseases 5
      Gene Ontology 18
      Phenotypes 49
    • 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:251434 Kim JH, et al., The Mre11-Nbs1 Interface Is Essential for Viability and Tumor Suppression. Cell Rep. 2017 Jan 10;18(2):496-507

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory