UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:UT2
HGNC Symbol:SLC14A2
HGNC Description:solute carrier family 14 (urea transporter), member 2
HGNC ID:10919
Superfamily:SLC
Chromosome:Chr.18(+): 42792947-43263072 GRCh37
Location:18q12.1-q21.1
OMIM:601611
OMIM Phenotype:None
Accessions:AF349446
Nucleotide RefSeq:NM_007163
Protein RefSeq:NP_009094
Entrez:8170
Ensembl:ENSG00000132874
Isoforms:2
Evidence:Substrate In Vitro Evidence: Urea - Review article. Shayakul C and Hediger MA. Pflugers Archive. 2003 (Epub). Tissue Distribution Evidence: Three human isoforms from alternative splicing: UT-A1, UT-A2 and UT-A3 UT-A1 - Inner medullary collecting duct UT-A2 - Loop of Henle UT-A3 - Inner medullary collecting duct - Review article. Shayakul C and Hediger MA. Pflugers Archive. 2003 (Epub).
Tissues:UT-A1 - Inner medullary collecting duct, UT-A2 - Loop of Henle, UT-A3 - Inner medullary collecting duct
Type:protein-coding
Sets:0
PharmGKB ID:PA35811
HPRD ID:03366
Substrates:Urea
Trivial Names:UT2, UTA, UTR, HUT2, UT-A2, hUT-A6
Transcripts:NM_007163.3 [Chr.18(+): 43194766-43263072 GRCh37]
NM_001242692.1 [Chr.18(+): 42792947-43263072 GRCh37]
ENST00000255226 [Chr.18(+): 43194766-43263072 GRCh37]
ENST00000323329 [Chr.18(+): 43195446-43224373 GRCh37]
ENST00000586448 [Chr.18(+): 42792960-43262940 GRCh37]
ENST00000589658 [Chr.18(+): 43246107-43263058 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 SLC14A2.

Variant Data

View all PMT variants for SLC14A2 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.