UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:NHE7
HGNC Symbol:SLC9A7
HGNC Description:solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7
HGNC ID:17123
Superfamily:SLC
Chromosome:Chr.X(-): 46458686-46618607 GRCh37
Location:Xp11.3
OMIM:300368
OMIM Phenotype:None
Accessions:AF298591
Nucleotide RefSeq:NM_032591
Protein RefSeq:NP_115980
Entrez:84679
Ensembl:ENSG00000065923
Isoforms:7
Evidence:Substrate In Vitro Evidence: Maintaining cytoplasmic acid-base balance: Na+ 92 EcR-CHO cells H+ 92 EcR-CHO cells K+ 92 EcR-CHO cells benzamil 92 EcR-CHO cells quinine 92 EcR-CHO cells Tissue Distribution Evidence: ubiquitously expressed (most prominent in brain, skeletal muscle, and secretory tissues) 92 Northern
Tissues:ubiquitously expressed (most prominent in brain, skeletal muscle, and secretory tissues)
Type:protein-coding
Sets:0
PharmGKB ID:PA38200
HPRD ID:02297
Substrates:Na+, H+, K+, benzamil, quinine
Trivial Names:NHE7, NHE-7, SLC9A6
Transcripts:NM_032591.2 [Chr.X(-): 46458686-46618607 GRCh37]
NM_001257291.1 [Chr.X(-): 46458686-46618607 GRCh37]
XM_005272684.1 [Chr.X(-): 46465597-46618581 GRCh37]
XM_005272680.1 [Chr.X(-): 46465597-46618491 GRCh37]
XM_005272681.1 [Chr.X(-): 46465699-46618490 GRCh37]
XM_005272682.1 [Chr.X(-): 46465720-46618491 GRCh37]
XM_005272683.1 [Chr.X(-): 46466107-46618492 GRCh37]
ENST00000328306 [Chr.X(-): 46464753-46618490 GRCh37]
ENST00000464933 [Chr.X(-): 46465696-46495069 GRCh37]
ENST00000489574 [Chr.X(-): 46465730-46529121 GRCh37]
ENST00000491894 [Chr.X(-): 46465730-46480451 GRCh37]
Annotation History:View Events (56)

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 SLC9A7.

Variant Data

View all PMT variants for SLC9A7 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.