UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SGLT2
HGNC Symbol:SLC5A2
HGNC Description:solute carrier family 5 (sodium/glucose cotransporter), member 2
HGNC ID:11037
Superfamily:SLC
Chromosome:Chr.16(+): 31494439-31502091 GRCh37
Location:16p11.2
OMIM:182381
OMIM Phenotype:Renal glucosuria
Accessions:M95549
Nucleotide RefSeq:NM_003041
Protein RefSeq:NP_003032
Entrez:6524
Ensembl:ENSG00000140675
Isoforms:1
Evidence:Substrate In Vitro Evidence: glucose 27 X oocytes alpha-methyl-D-glucopyranoside 27 X oocytes Tissue Distribution Evidence: kidney 27 Northern
Tissues:kidney
Type:protein-coding
Sets:0
PharmGKB ID:PA35902
HPRD ID:08919
Substrates:Glucose, alpha-methyl-D-glucopyranoside
Trivial Names:SGLT2
Transcripts:NM_003041.3 [Chr.16(+): 31494439-31502091 GRCh37]
ENST00000330498 [Chr.16(+): 31494439-31502089 GRCh37]
ENST00000419665 [Chr.16(+): 31494439-31501990 GRCh37]
ENST00000562006 [Chr.16(+): 31494459-31496937 GRCh37]
ENST00000564197 [Chr.16(+): 31500810-31502181 GRCh37]
ENST00000565446 [Chr.16(+): 31496068-31497597 GRCh37]
ENST00000567051 [Chr.16(+): 31500810-31502166 GRCh37]
ENST00000568188 [Chr.16(+): 31499341-31502090 GRCh37]
ENST00000568891 [Chr.16(+): 31499531-31501665 GRCh37]
ENST00000569576 [Chr.16(+): 31494323-31497597 GRCh37]
Annotation History:View Events (2)

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 SLC5A2.

Variant Data

View all PMT variants for SLC5A2 on UCSC Genome Browser
Showing SNP features for transcript: NM_003041  
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.