UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:NHE5
HGNC Symbol:SLC9A5
HGNC Description:solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5
HGNC ID:11078
Superfamily:SLC
Chromosome:Chr.16(+): 67282855-67306094 GRCh37
Location:16q22.1
OMIM:600477
OMIM Phenotype:None
Accessions:AF111173
Nucleotide RefSeq:NM_004594
Protein RefSeq:NP_004585
Entrez:6553
Ensembl:ENSG00000135740
Isoforms:1
Evidence:Substrate In Vitro Evidence: Maintaining cytoplasmic acid-base balance: Na+ 127 CHO (AP-1) cells H+ 127 CHO (AP-1) cells Li+ 127 CHO (AP-1) cells 5-(N,N-hexamethylene)-amiloride 127 CHO (AP-1) cells 5-(N-ethyl-N-isopropyl)amiloride 127 CHO (AP-1) cells (3-methanesulfonyl-4-piperidinobenzoyl)guanidine methanesulfonate 127 CHO (AP-1) cells amiloride 127 CHO (AP-1) cells cimetidine 127 CHO (AP-1) cells harmaline 127 CHO (AP-1) cells Tissue Distribution Evidence: brain 9 Northern
Tissues:brain
Type:protein-coding
Sets:0
PharmGKB ID:PA35934
HPRD ID:02723
Substrates:Na+, H+, Li+, 5-(N,N-hexamethylene)-amiloride, 5-(N-ethyl-N-isopropyl)amiloride, (3-methanesulfonyl-4-piperidinobenzoyl)guanidine methanesulfonate, amiloride, cimetidine, harmaline
Trivial Names:NHE5
Transcripts:NM_004594.2 [Chr.16(+): 67282855-67306094 GRCh37]
ENST00000299798 [Chr.16(+): 67282853-67306093 GRCh37]
ENST00000561472 [Chr.16(+): 67282882-67290381 GRCh37]
ENST00000563723 [Chr.16(+): 67282880-67306093 GRCh37]
ENST00000564704 [Chr.16(+): 67271586-67306093 GRCh37]
ENST00000564812 [Chr.16(+): 67282775-67305961 GRCh37]
ENST00000566345 [Chr.16(+): 67280818-67293845 GRCh37]
ENST00000566626 [Chr.16(+): 67286712-67304883 GRCh37]
ENST00000566638 [Chr.16(+): 67282981-67299051 GRCh37]
ENST00000567247 [Chr.16(+): 67286639-67299009 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 SLC9A5.

Variant Data

View all PMT variants for SLC9A5 on UCSC Genome Browser
Showing SNP features for transcript: NM_004594  
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.