Gene: SLC9A3R2

Alternate names for this Gene: E3KARP|NHE3RF2|NHERF-2|NHERF2|OCTS2|SIP-1|SIP1|TKA-1

Gene Summary: 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.3

Description of this Gene: SLC9A3 regulator 2

Type of Gene: protein-coding

rs9930956 in SLC9A3R2 gene and Bicuspid aortic valve PMID 20098615 2010 Application of gene network analysis techniques identifies AXIN1/PDIA2 and endoglin haplotypes associated with bicuspid aortic valve.

rs35327014 in SLC9A3R2 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs139491786 in SLC9A3R2 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs139491786 in SLC9A3R2 gene and Diastolic blood pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs139491786 in SLC9A3R2 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs139491786 in SLC9A3R2 gene and Systolic Pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.