LongevityMap Gene

Gene details

HGNC symbol: SLC9A3R2
Aliases: SIP1; OCTS2; SIP-1; TKA-1; E3KARP; NHERF2; NHE3RF2; NHERF-2
Common name: SLC9A3 regulator 2
Description: This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular processes by binding to and regulating the membrane expression and protein-protein interactions of membrane receptors and transport proteins. The encoded protein plays a role in intestinal sodium absorption by regulating the activity of the sodium/hydrogen exchanger 3, and may also regulate the cystic fibrosis transmembrane regulator (CFTR) ion channel. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Cytogenetic Location: 16p13.3
UCSC Genome Browser: View 16p13.3 on the UCSC genome browser
OMIM: 606553
Ensembl: ENSG00000065054
UniProt/Swiss-Prot: NHRF2_HUMAN
Entrez Gene: 9351
UniGene: 440896
1000 Genomes: 1000 Genomes

Significant/Non-significant: 1/1

Longevity Association: Significant
Population: Danish
Study Design: Alleles in candidate pathways (GH/IGF1 signaling, DNA damage signaling and repair and pro/antioxidants) were investigated for association with longevity in 1089 oldest-old (age 92-93) and 736 middle-aged Danes
Conclusions: Eleven SNPs (in GSR, KL, GHRHR, INS, GHSR, IGF2R, RAD52, WRN, RAD23B, POLB and NTLH1) were associated with longevity after correction for multiple hypothesis testing. No replications were observed in German and Dutch populations.
Indentifier

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