UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:None
HGNC Symbol:SLC9A3R1
HGNC Description:solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
HGNC ID:11075
Superfamily:SLC
Chromosome:Chr.17(+): 72744751-72765499 GRCh37
Location:17q25.1
OMIM:604990
OMIM Phenotype:None
Accessions:None
Nucleotide RefSeq:NM_004252
Protein RefSeq:NP_004243
Entrez:9368
Ensembl:ENSG00000109062
Isoforms:1
Evidence:None
Tissues:epithelial cells (intestinal, gastric parietal, kidney proximal tubule, bronciole, mesothelia)
Type:protein-coding
Sets:None
PharmGKB ID:PA35931
HPRD ID:05406
Substrates:(mediates assembly of transmembrane and cytosolic proteins into signal transduction complexes)
Trivial Names:EBP50, NHERF, NHERF1, NHERF-1, NPHLOP2
Transcripts:NM_004252.4 [Chr.17(+): 72744751-72765499 GRCh37]
ENST00000262613 [Chr.17(+): 72744791-72765492 GRCh37]
ENST00000413388 [Chr.17(+): 72758142-72765435 GRCh37]
ENST00000578958 [Chr.17(+): 72759169-72764698 GRCh37]
ENST00000581356 [Chr.17(+): 72759567-72764942 GRCh37]
ENST00000583369 [Chr.17(+): 72744791-72764721 GRCh37]
Annotation History:View Events (6)

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 SLC9A3R1.

Variant Data

View all PMT variants for SLC9A3R1 on UCSC Genome Browser
Showing SNP features for transcript: NM_004252  
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.