LongevityMap Gene

Gene details

HGNC symbol
NBN 
Aliases
ATV; NBS; P95; NBS1; AT-V1; AT-V2 
Common name
nibrin 
Description
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]
Cytogenetic Location
8q21.3
UCSC Genome Browser
View 8q21.3 on the UCSC genome browser
OMIM
602667
Ensembl
ENSG00000104320
UniProt/Swiss-Prot
A0A0C4DG07_HUMAN
Entrez Gene
4683
UniGene
492208
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
nbn
Mus musculus
Nbn
Rattus norvegicus
Nbn

In other databases

GenAge human genes
  • This gene is present as NBN

Studies (2)

Significant/Non-significant: 0/2

Study 1

Longevity Association
Non-significant
Population
Italian (Southern)
Study Design
A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
Conclusions
After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
Indentifier
rs12680687
Reference

    Study 2

    Longevity Association
    Non-significant
    Population
    Danish
    Study Design
    592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
    Conclusions
    The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
    Indentifier
    rs1805794
    Reference