LongevityMap variant
- 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.
- 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]
- Other longevity studies of this gene
- 1
- OMIM
- 606553
- Ensembl
- ENSG00000065054
- UniProt/Swiss-Prot
- NHRF2_HUMAN
- Entrez Gene
- 9351
- UniGene
- 440896
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- SLC9A3R2 (1 of many)
- Danio rerio
- SLC9A3R2 (1 of many)
- Drosophila melanogaster
- Sip1
- Mus musculus
- Slc9a3r2
- Rattus norvegicus
- Slc9a3r2
Soerensen et al. (2012)
Other variants which are also part of this study
