UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:NHE6
HGNC Symbol:SLC9A6
HGNC Description:solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
HGNC ID:11079
Superfamily:SLC
Chromosome:Chr.X(+): 135067583-135129428 GRCh37
Location:Xq26.3
OMIM:300231
OMIM Phenotype:None
Accessions:AF030409
Nucleotide RefSeq:NM_001042537
Protein RefSeq:NP_001036002
Entrez:10479
Ensembl:ENSG00000198689
Isoforms:5
Evidence:Substrate In Vitro Evidence: 1. When transiently expressed in CHO cells, NHE6 is distributed in recycling compartments and transiently appears on the plasma membrane (enhanced GFP). These results suggest that NHE6 is an endosomal sodium/hydrogen exchanger that may regulate intravesicular pH and volume and contribute to lysosomal biogenesis. Brett, CL et al. Am J Phys Cell Phys 2002 May, 282(5):C1031-41 PMID 11940519. Tissue Distribution Evidence: 1. Northern blot analysis demonstrated that NHE6 is ubiquitously expressed but is most abundant in the brain, skeletal muscle, and heart. Numata, M et al. JBC 1998 Mar 20, 273(12):6951-9 PMID 9507001.
Tissues:brain, skeletal muscle, heart, ubiquitous
Type:protein-coding
Sets:0
PharmGKB ID:PA35935
HPRD ID:02208
Substrates:Na+, H+
Trivial Names:MRSA, NHE6
Transcripts:NM_001042537.1 [Chr.X(+): 135067586-135129428 GRCh37]
NM_006359.2 [Chr.X(+): 135067586-135129428 GRCh37]
NM_001177651.1 [Chr.X(+): 135067583-135129428 GRCh37]
XM_005262353.1 [Chr.X(+): 135067598-135129428 GRCh37]
XM_005278131.1 [Chr.X(+): 916582-978412 GRCh37]
ENST00000370695 [Chr.X(+): 135067627-135129423 GRCh37]
ENST00000370698 [Chr.X(+): 135067627-135129423 GRCh37]
ENST00000370701 [Chr.X(+): 135067598-135129298 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 SLC9A6.

Variant Data

View all PMT variants for SLC9A6 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.