UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:NCKX4
HGNC Symbol:SLC24A4
HGNC Description:solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
HGNC ID:10978
Superfamily:SLC
Chromosome:Chr.14(+): 92788925-92967825 GRCh37
Location:14q32.12
OMIM:609840
OMIM Phenotype:None
Accessions:AF520704,AL834225
Nucleotide RefSeq:NM_153646
Protein RefSeq:NP_705932
Entrez:123041
Ensembl:ENSG00000140090
Isoforms:5
Evidence:Substrate In Vitro Evidence: When expressed in transiently transfected HEK 293 cells, NCKX4 was shown to be a potassium-sensitive sodium/calcium exchanger (Li XF, Kraev AS, Lytton J. Molecular cloning of a fourth member of the potassium-dependent sodium-calcium exchanger gene family, NCKX4. J Biol Chem 277(50): 48410-7, 2002). Tissue Distribution Evidence: In rats, NCKX4 mRNA was detected in high amounts in a variety of brain tissues (cerebral cortex, cerebellum, brainstem, and midbrain), aorta, lung, and thymus, and at lower levels in heart, stomach, small intestine, spleen, lymph node, skeletal muscle, kidney, and adrenal gland (Li XF, Kraev AS, Lytton J. Molecular cloning of a fourth member of the potassium-dependent sodium-calcium exchanger gene family, NCKX4. J Biol Chem 277(50): 48410-7, 2002).
Tissues:Brain (cerebral cortex, cerebellum, brainstem, midbrain), aorta, lung, thymus (high); heart, stomach, small intestine, spleen, lymph node, skeletal muscle, kidney, adrenal gland (low)
Type:protein-coding
Sets:0
PharmGKB ID:PA35854
HPRD ID:15353
Substrates:Na+, Ca2+
Trivial Names:NCKX4, SHEP6, SLC24A2
Transcripts:NM_153646.3 [Chr.14(+): 92790152-92967825 GRCh37]
NM_153647.3 [Chr.14(+): 92789537-92967825 GRCh37]
NM_153648.3 [Chr.14(+): 92788925-92967825 GRCh37]
XM_005267341.1 [Chr.14(+): 92789504-92967825 GRCh37]
XM_005267342.1 [Chr.14(+): 92874729-92951247 GRCh37]
ENST00000298877 [Chr.14(+): 92790202-92962595 GRCh37]
ENST00000351924 [Chr.14(+): 92790202-92962595 GRCh37]
ENST00000393265 [Chr.14(+): 92788925-92962595 GRCh37]
ENST00000525557 [Chr.14(+): 92905708-92962596 GRCh37]
ENST00000526482 [Chr.14(+): 92919110-92962596 GRCh37]
ENST00000531433 [Chr.14(+): 92789537-92962595 GRCh37]
ENST00000532405 [Chr.14(+): 92789949-92962595 GRCh37]
ENST00000554461 [Chr.14(+): 92874723-92909097 GRCh37]
ENST00000554925 [Chr.14(+): 92909709-92960266 GRCh37]
ENST00000556739 [Chr.14(+): 92916562-92929091 GRCh37]
Annotation History:View Events (17)

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 SLC24A4.

Variant Data

View all PMT variants for SLC24A4 on UCSC Genome Browser
Showing SNP features for transcript:   
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.