UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:NHE2
HGNC Symbol:SLC9A2
HGNC Description:solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2
HGNC ID:11072
Superfamily:SLC
Chromosome:Chr.2(+): 103236166-103327809 GRCh37
Location:2q11.2
OMIM:600530
OMIM Phenotype:None
Accessions:NM_003048
Nucleotide RefSeq:NM_003048
Protein RefSeq:NP_003039
Entrez:6549
Ensembl:ENSG00000115616
Isoforms:1
Evidence:Substrate In Vitro Evidence: Maintaining cytoplasmic acid-base balance: Na+ 170 CHO cells H+ 170 CHO cells Li+ 170 CHO cells NH4+ Pflugers 5-(N-ethyl-N-isopropyl) amiloride (EIPA) 170 CHO cells 5-(N,N-dimethyl) amiloride (DMA) 170 CHO cells amiloride 170 CHO cells benzamil 170 CHO cells Tissue Distribution Evidence: skeletal muscle, colon, and kidney, testis, prostate, ovary, and small intestine 86 Northern
Tissues:skeletal muscle, colon, and kidney, testis, prostate, ovary, and small intestine
Type:protein-coding
Sets:V
PharmGKB ID:PA35929
HPRD ID:02756
Substrates:Na+, H+, Li+, NH4+, 5-(N-ethyl-N-isopropyl) amiloride, 5-(N,N-dimethyl) amiloride, amiloride, benzamil
Trivial Names:NHE2
Transcripts:NM_003048.3 [Chr.2(+): 103236166-103327809 GRCh37]
ENST00000233969 [Chr.2(+): 103236166-103327777 GRCh37]
ENST00000467657 [Chr.2(+): 103300757-103303227 GRCh37]
ENST00000469286 [Chr.2(+): 103306153-103318910 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 SLC9A2.

Variant Data

View all PMT variants for SLC9A2 on UCSC Genome Browser
Showing SNP features for transcript: NM_003048  
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.