Gene: SLC24A3

Alternate names for this Gene: NCKX3

Gene Summary: Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008]. ##Evidence-Data-START## Transcript exon combination :: AF288087.1, AF169257.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000328041.11/ ENSP00000333519.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##

Gene is located in Chromosome: 20

Location in Chromosome : 20p11.23

Description of this Gene: solute carrier family 24 member 3

Type of Gene: protein-coding

rs3828002 in SLC24A3 gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6112527 in SLC24A3 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3790228 in SLC24A3 gene and Diastolic blood pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs4814864 in SLC24A3 gene and Migraine Disorders PMID 27322543 2016 Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs6081541 in SLC24A3 gene and Other and unspecified reactive psychosis PMID 24132900 2013 Genome-wide association study of atypical psychosis.

rs6081569 in SLC24A3 gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs6081541 in SLC24A3 gene and Psychotic Disorders PMID 24132900 2013 Genome-wide association study of atypical psychosis.

rs6035275 in SLC24A3 gene and QT interval feature (observable entity) PMID 27958378 2018 Large-scale pharmacogenomic study of sulfonylureas and the QT, JT and QRS intervals: CHARGE Pharmacogenomics Working Group.

rs4814884 in SLC24A3 gene and Smoking PMID 30643258 2019 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.

rs6046226 in SLC24A3 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.