UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:NHE4
HGNC Symbol:SLC9A4
HGNC Description:solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4
HGNC ID:11077
Superfamily:SLC
Chromosome:Chr.2(+): 103089173-103150433 GRCh37
Location:2q12.1
OMIM:600531
OMIM Phenotype:None
Accessions:CR627411
Nucleotide RefSeq:NM_001011552
Protein RefSeq:NP_001011552
Entrez:389015
Ensembl:ENSG00000180251
Isoforms:2
Evidence:Substrate In Vitro Evidence: Maintaining cytoplasmic acid-base balance: Na+ Am J Physiol. 1997 Jan;272(1 Pt 1):C90-8 stably transfected fibroblasts H+ Am J Physiol. 1997 Jan;272(1 Pt 1):C90-8 stably transfected fibroblasts Li+ Am J Physiol. 1997 Jan;272(1 Pt 1):C90-8 stably transfected fibroblasts K+ Am J Physiol. 1997 Jan;272(1 Pt 1):C90-8 stably transfected fibroblasts Tissue Distribution Evidence: Stomach>>>>kidney, brain
Tissues:Stomach>>>>kidney, brain
Type:protein-coding
Sets:0
PharmGKB ID:PA35933
HPRD ID:15973
Substrates:Na+, H+, Li+, K+
Trivial Names:NHE4
Transcripts:NM_001011552.3 [Chr.2(+): 103089762-103150431 GRCh37]
XM_005263940.1 [Chr.2(+): 103089173-103150433 GRCh37]
ENST00000295269 [Chr.2(+): 103089762-103150431 GRCh37]
ENST00000492154 [Chr.2(+): 103119901-103122264 GRCh37]
Annotation History:View Events (11)

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 SLC9A4.

Variant Data

View all PMT variants for SLC9A4 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:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.