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Gene Ontology Classifications
Symbol
Name
ID
Nbn
nibrin
MGI:1351625

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Nbn. (This text reflects annotations as of Thursday, July 24, 2014.)
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text for additional MGI annotations
References
  1. Celeste A et al. (2002) Genomic instability in mice lacking histone H2AX. Science, 296:922-7. (PubMed:11934988)
  2. Dumon-Jones V et al. (2003) Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis. Cancer Res, 63:7263-9. (PubMed:14612522)
  3. Frappart PO et al. (2005) An essential function for NBS1 in the prevention of ataxia and cerebellar defects. Nat Med, 11:538-44. (PubMed:15821748)
  4. Kracker S et al. (2005) Nibrin functions in Ig class-switch recombination. Proc Natl Acad Sci U S A, 102:1584-9. (PubMed:15668383)
  5. Stracker TH et al. (2008) Chk2 suppresses the oncogenic potential of DNA replication-associated DNA damage. Mol Cell, 31:21-32. (PubMed:18614044)
  6. Sutherland HG et al. (2001) Large-scale identification of mammalian proteins localized to nuclear sub-compartments. Hum Mol Genet, 10:1995-2011. (PubMed:11555636)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/16/2014
MGI 5.19
The Jackson Laboratory