UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:NCX2
HGNC Symbol:SLC8A2
HGNC Description:solute carrier family 8 (sodium/calcium exchanger), member 2
HGNC ID:11069
Superfamily:SLC
Chromosome:Chr.19(-): 47931274-47975307 GRCh37
Location:19q13.3
OMIM:601901
OMIM Phenotype:None
Accessions:AB029010
Nucleotide RefSeq:NM_015063
Protein RefSeq:NP_055878
Entrez:6543
Ensembl:ENSG00000118160
Isoforms:2
Evidence:Substrate In Vitro Evidence: rat: Na+ 46 X oocytes Ca2+ 46 X oocytes Tissue Distribution Evidence: brain, skeletal muscle 46 Northern
Tissues:brain, skeletal muscle
Type:protein-coding
Sets:0
PharmGKB ID:PA313
HPRD ID:15990
Substrates:Na+, Ca2+
Trivial Names:NCX2
Transcripts:NM_015063.2 [Chr.19(-): 47931279-47975307 GRCh37]
XM_005259172.1 [Chr.19(-): 47931274-47975116 GRCh37]
ENST00000236877 [Chr.19(-): 47931274-47975425 GRCh37]
ENST00000539381 [Chr.19(-): 47932997-47975120 GRCh37]
ENST00000542837 [Chr.19(-): 47933076-47975129 GRCh37]
ENST00000594353 [Chr.19(-): 47960770-47975125 GRCh37]
ENST00000597014 [Chr.19(-): 47968992-47975150 GRCh37]
ENST00000600576 [Chr.19(-): 47933492-47935825 GRCh37]
ENST00000601757 [Chr.19(-): 47935664-47950879 GRCh37]
Annotation History:View Events (10)

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 SLC8A2.

Variant Data

View all PMT variants for SLC8A2 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.