UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SGLT3
HGNC Symbol:SLC5A4
HGNC Description:solute carrier family 5 (glucose activated ion channel), member 4
HGNC ID:11039
Superfamily:SLC
Chromosome:Chr.22(-): 32614463-32651318 GRCh37
Location:22q12.3
OMIM:
OMIM Phenotype:None
Accessions:AJ133127
Nucleotide RefSeq:NM_014227
Protein RefSeq:NP_055042
Entrez:6527
Ensembl:ENSG00000100191
Isoforms:1
Evidence:Substrate In Vitro Evidence: a glucose sensor in the plasma membrane instead of a Na+/glucose cotransporter 2 X oocytes Tissue Distribution Evidence: human skeletal muscle and small intestine 2 RT-PCR kidney, uterus, and testis 2 RNase protection
Tissues:kidney, uterus, and testis, human skeletal muscle and small intestine
Type:protein-coding
Sets:0
PharmGKB ID:PA35904
HPRD ID:10238
Substrates:a glucose sensor in the plasma membrane instead of a Na+/glucose cotransporter
Trivial Names:SAAT1, SGLT3, DJ90G24.4
Transcripts:NM_014227.2 [Chr.22(-): 32614463-32651318 GRCh37]
ENST00000266086 [Chr.22(-): 32614465-32651328 GRCh37]
Annotation History:View Events (3)

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 SLC5A4.

Variant Data

View all PMT variants for SLC5A4 on UCSC Genome Browser
Showing SNP features for transcript: NM_014227  
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.