Gene: SLC12A2

Alternate names for this Gene: BSC|BSC2|KILQS|NKCC1|PPP1R141

Gene Summary: The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5q23.3

Description of this Gene: solute carrier family 12 member 2

Type of Gene: protein-coding

rs2568928 in SLC12A2 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs185689480 in SLC12A2 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs185689480 in SLC12A2 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs3101725 in SLC12A2 gene and Varicosity PMID 30998689 2019 Varicose veins of lower extremities: Insights from the first large-scale genetic study.

PMID 30566020 2018 Clinical and Genetic Determinants of Varicose Veins.