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

Homologs in model organisms

Danio rerio
CU571260.1
Mus musculus
Slc9a3r2
Rattus norvegicus
Slc9a3r2

Studies (2)

Significant/Non-significant: 1/1

Study 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
rs3211994
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
    rs3211994
    Reference