UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:NHE8
HGNC Symbol:SLC9A8
HGNC Description:solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8
HGNC ID:20728
Superfamily:SLC
Chromosome:Chr.20(+): 48429250-48508779 GRCh37
Location:20q13.13
OMIM:612730
OMIM Phenotype:None
Accessions:AB023156,AL833574,BX424838,BX430866
Nucleotide RefSeq:NM_015266
Protein RefSeq:NP_056081
Entrez:23315
Ensembl:ENSG00000197818
Isoforms:2
Evidence:Tissue Distribution Evidence: 1. Cloned from mouse kidney. Northern blot of mouse tissues revealed ubiquitous expression. Western blot demonstrated expression in apical membranes from rat renal cortex. ISH demonstrated NHE8 presence in both cortex and medulla in the proximal tubules, where it may contribute to apical membrane ion transport. Goyal, S; Vanden Heuvel, G; Aronson, PS. Am J Phys Renal Phys 2003 Mar, 284(3):F467-73 PMID 12409279.
Tissues:kidney (cortex and medulla in the proximal tubules)
Type:protein-coding
Sets:0
PharmGKB ID:PA134924114
HPRD ID:18062
Substrates:Na+, H+
Trivial Names:NHE8, NHE-8
Transcripts:NM_015266.2 [Chr.20(+): 48429250-48508779 GRCh37]
NM_001260491.1 [Chr.20(+): 48429250-48508779 GRCh37]
ENST00000361573 [Chr.20(+): 48429418-48508779 GRCh37]
ENST00000417961 [Chr.20(+): 48429250-48508772 GRCh37]
ENST00000489787 [Chr.20(+): 48429431-48431981 GRCh37]
ENST00000490250 [Chr.20(+): 48502908-48508779 GRCh37]
ENST00000539601 [Chr.20(+): 48429448-48505143 GRCh37]
ENST00000541138 [Chr.20(+): 48429447-48505040 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 SLC9A8.

Variant Data

View all PMT variants for SLC9A8 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.