LongevityMap variant
- 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.
- 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
Debrabant et al. (2014)
Other variants which are also part of this study
