LongevityMap Gene

Gene details

HGNC symbol
NBEA 
Aliases
BCL8B; LYST2 
Common name
neurobeachin 
Description
This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011]
Cytogenetic Location
13q13.3
UCSC Genome Browser
View 13q13.3 on the UCSC genome browser
OMIM
604889
Ensembl
ENSG00000172915
UniProt/Swiss-Prot
B3KXQ8_HUMAN
Entrez Gene
26960
UniGene
491172
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
nbeaa
Mus musculus
Nbea

Studies (1)

Significant/Non-significant: 1/0

Longevity Association
Significant
Population
American (Caucasian)
Study Design
Genome-wide association study in 801 centenarians and 914 healthy controls
Conclusions
281 SNPs were found to discriminate between cases and controls
Indentifier
rs9530108
Reference