UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:None
HGNC Symbol:SLC9A3R2
HGNC Description:solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2
HGNC ID:11076
Superfamily:SLC
Chromosome:Chr.16(+): 2076869-2089027 GRCh37
Location:16p13.3
OMIM:606553
OMIM Phenotype:None
Accessions:None
Nucleotide RefSeq:NM_001130012
Protein RefSeq:NP_001123484
Entrez:9351
Ensembl:ENSG00000065054
Isoforms:7
Evidence:None
Tissues:lung
Type:protein-coding
Sets:None
PharmGKB ID:PA35932
HPRD ID:05946
Substrates:(regulates PTH signalling in cells)
Trivial Names:SIP1, OCTS2, SIP-1, TKA-1, E3KARP, NHERF2, NHE3RF2, NHERF-2
Transcripts:NM_001130012.2 [Chr.16(+): 2076869-2089027 GRCh37]
NM_004785.5 [Chr.16(+): 2076869-2089027 GRCh37]
XM_005255703.1 [Chr.16(+): 2082818-2089027 GRCh37]
XM_005255702.1 [Chr.16(+): 2082876-2087820 GRCh37]
NM_001252073.1 [Chr.16(+): 2083265-2089027 GRCh37]
NM_001252076.1 [Chr.16(+): 2083265-2089027 GRCh37]
NM_001252075.1 [Chr.16(+): 2083265-2089027 GRCh37]
ENST00000424542 [Chr.16(+): 2076869-2089027 GRCh37]
ENST00000432365 [Chr.16(+): 2076929-2088490 GRCh37]
ENST00000561844 [Chr.16(+): 2079755-2088025 GRCh37]
ENST00000563587 [Chr.16(+): 2079528-2088166 GRCh37]
ENST00000564033 [Chr.16(+): 2085982-2088129 GRCh37]
ENST00000565086 [Chr.16(+): 2082813-2086824 GRCh37]
ENST00000565855 [Chr.16(+): 2083265-2087981 GRCh37]
ENST00000566198 [Chr.16(+): 2083272-2088422 GRCh37]
ENST00000567504 [Chr.16(+): 2075357-2086390 GRCh37]
Annotation History:View Events (50)

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 SLC9A3R2.

Variant Data

View all PMT variants for SLC9A3R2 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.