UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:NCX1
HGNC Symbol:SLC8A1
HGNC Description:solute carrier family 8 (sodium/calcium exchanger), member 1
HGNC ID:11068
Superfamily:SLC
Chromosome:Chr.2(-): 40339286-40739575 GRCh37
Location:2p22.1
OMIM:182305
OMIM Phenotype:None
Accessions:M91368
Nucleotide RefSeq:NM_001112800
Protein RefSeq:NP_001106271
Entrez:6546
Ensembl:ENSG00000183023
Isoforms:8
Evidence:Substrate In Vitro Evidence: Maintaining cytoplasmic acid-base balance: Na+ PNAS. 1992 May 15;89(10):4769-73 X oocytes Ca2+ PNAS. 1992 May 15;89(10):4769-73 X oocytes Substrate In Vivo Evidence: Homozygous NCX1 knockout mice are embryonic lethal at 11 days post-coitum 9 ko mouse Tissue Distribution Evidence: heart, brain PNAS. 1992 May 15;89(10):4769-73 Northern
Tissues:heart, brain
Type:protein-coding
Sets:0
PharmGKB ID:PA314
HPRD ID:01659
Substrates:Na+, Ca2+
Trivial Names:NCX1
Transcripts:NM_001112800.1 [Chr.2(-): 40339286-40657444 GRCh37]
NM_001112801.1 [Chr.2(-): 40339286-40657444 GRCh37]
NM_001112802.1 [Chr.2(-): 40339286-40739575 GRCh37]
NM_021097.2 [Chr.2(-): 40339286-40657444 GRCh37]
XM_005264514.1 [Chr.2(-): 40339286-40679196 GRCh37]
XM_005264513.1 [Chr.2(-): 40339286-40678668 GRCh37]
XM_005264512.1 [Chr.2(-): 40339286-40678668 GRCh37]
NM_001252624.1 [Chr.2(-): 40339286-40657444 GRCh37]
ENST00000332839 [Chr.2(-): 40342393-40657420 GRCh37]
ENST00000402441 [Chr.2(-): 40342253-40739575 GRCh37]
ENST00000403092 [Chr.2(-): 40342171-40739501 GRCh37]
ENST00000405269 [Chr.2(-): 40342390-40838193 GRCh37]
ENST00000405901 [Chr.2(-): 40342185-40657444 GRCh37]
ENST00000406391 [Chr.2(-): 40342393-40657420 GRCh37]
ENST00000406785 [Chr.2(-): 40324410-40679209 GRCh37]
ENST00000407929 [Chr.2(-): 40341871-40657411 GRCh37]
ENST00000408028 [Chr.2(-): 40342393-40657420 GRCh37]
ENST00000417271 [Chr.2(-): 40657201-40679148 GRCh37]
ENST00000448531 [Chr.2(-): 40657160-40739575 GRCh37]
ENST00000455476 [Chr.2(-): 40657160-40680578 GRCh37]
ENST00000542024 [Chr.2(-): 40342393-40657420 GRCh37]
ENST00000542756 [Chr.2(-): 40339286-40657444 GRCh37]
Annotation History:View Events (13)

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 SLC8A1.

Variant Data

View all PMT variants for SLC8A1 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: TOPO2 image is not available.