Gene: SLC9A3

Alternate names for this Gene: DIAR8|NHE-3|NHE3

Gene Summary: The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22.

Gene is located in Chromosome: 5

Location in Chromosome : 5p15.33

Description of this Gene: solute carrier family 9 member A3

Type of Gene: protein-coding

rs766076524 in SLC9A3 gene and Congenital secretory diarrhea, sodium type (disorder) PMID 26358773 2015 Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.

rs56302516 in SLC9A3 gene and Cystic Fibrosis PMID 26417704 2015 Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis.

rs6555317 in SLC9A3 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.