UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:NCKX3
HGNC Symbol:SLC24A3
HGNC Description:solute carrier family 24 (sodium/potassium/calcium exchanger), member 3
HGNC ID:10977
Superfamily:SLC
Chromosome:Chr.20(+): 19193290-19703541 GRCh37
Location:20p13
OMIM:609839
OMIM Phenotype:None
Accessions:AF288087
Nucleotide RefSeq:NM_020689
Protein RefSeq:NP_065740
Entrez:57419
Ensembl:ENSG00000185052
Isoforms:1
Evidence:Substrate In Vitro Evidence: In HEK 293 cells transiently transfected with NCKX3, this transporter was shown to be a potassium-dependent sodium/calcium exchanger (Kraev A, Quednau BD, Leach S, Li XF, Dong H, Winkfein R, Perizzolo M, Cai X, Yang R, Philipson KD, Lytton J. Molecular cloning of a third member of the potassium-dependent sodium-calcium exchanger gene family, NCKX3. J Biol Chem 276(25): 23161-72, 2001). Tissue Distribution Evidence: Northern blot analysis revealed NCKX3 mRNA expression in several regions of human brain, including cerebral cortex, cerebellum, medulla, and putamen (Kraev A, Quednau BD, Leach S, Li XF, Dong H, Winkfein R, Perizzolo M, Cai X, Yang R, Philipson KD, Lytton J. Molecular cloning of a third member of the potassium-dependent sodium-calcium exchanger gene family, NCKX3. J Biol Chem 276(25): 23161-72, 2001).
Tissues:Brain (cerebral cortex, cerebellum, medulla, putamen)
Type:protein-coding
Sets:0
PharmGKB ID:PA35853
HPRD ID:15352
Substrates:Na+, Ca2+
Trivial Names:NCKX3
Transcripts:NM_020689.3 [Chr.20(+): 19193290-19703541 GRCh37]
ENST00000328041 [Chr.20(+): 19193290-19703581 GRCh37]

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for SLC24A3.

Variant Data

View all PMT variants for SLC24A3 on UCSC Genome Browser
Showing SNP features for transcript: NM_020689  
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.