|HGNC Description:||solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2|
|Chromosome:||Chr.2(+): 103236166-103327809 GRCh37|
|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|
|Substrates:||Na+, H+, Li+, NH4+, 5-(N-ethyl-N-isopropyl) amiloride, 5-(N,N-dimethyl) amiloride, amiloride, benzamil|
|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.
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.
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.