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Most cancer cells displayed weak to moderate cytoplasmic and nuclear staining. A few lung cancers showed strong cytoplasmic positivity with a granular pattern.
GENE INFORMATION
Gene name
NBN (HGNC Symbol)
Synonyms
AT-V1, AT-V2, ATV, NBS, NBS1
Description
Nibrin (HGNC Symbol)
Entrez gene summary
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]
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000077 [DNA damage checkpoint] GO:0000723 [telomere maintenance] GO:0000724 [double-strand break repair via homologous recombination] GO:0000784 [nuclear chromosome, telomeric region] GO:0001701 [in utero embryonic development] GO:0001832 [blastocyst growth] GO:0003684 [damaged DNA binding] GO:0004003 [ATP-dependent DNA helicase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005657 [replication fork] GO:0005730 [nucleolus] GO:0005829 [cytosol] GO:0006281 [DNA repair] GO:0006302 [double-strand break repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0006974 [cellular response to DNA damage stimulus] GO:0007050 [cell cycle arrest] GO:0007093 [mitotic cell cycle checkpoint] GO:0007095 [mitotic G2 DNA damage checkpoint] GO:0008134 [transcription factor binding] GO:0008283 [cell proliferation] GO:0016605 [PML body] GO:0030174 [regulation of DNA-dependent DNA replication initiation] GO:0030330 [DNA damage response, signal transduction by p53 class mediator] GO:0030870 [Mre11 complex] GO:0031954 [positive regulation of protein autophosphorylation] GO:0032508 [DNA duplex unwinding] GO:0033674 [positive regulation of kinase activity] GO:0035861 [site of double-strand break] GO:0042405 [nuclear inclusion body] GO:0045003 [double-strand break repair via synthesis-dependent strand annealing] GO:0045190 [isotype switching] GO:0047485 [protein N-terminus binding] GO:0050885 [neuromuscular process controlling balance] GO:0051321 [meiotic cell cycle] GO:0097193 [intrinsic apoptotic signaling pathway]