UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SLC19A3
HGNC Symbol:SLC19A3
HGNC Description:solute carrier family 19 (thiamine transporter), member 3
HGNC ID:16266
Superfamily:SLC
Chromosome:Chr.2(-): 228549926-228582814 GRCh37
Location:2q37
OMIM:606152
OMIM Phenotype:None
Accessions:NM_025243
Nucleotide RefSeq:NM_025243
Protein RefSeq:NP_079519
Entrez:80704
Ensembl:ENSG00000135917
Isoforms:6
Evidence:Substrate In Vitro Evidence: thiamine (Vitamin B1) 6 HeLa cells Substrate In Vivo Evidence: numerous mutations have been identified and are associated with TRMA 13 genotyping analysis in TRMA families 5 mutation analysis of TRMA affected individuals Tissue Distribution Evidence: ubiquitously expressed 13 Northern
Tissues:ubiquitously expressed
Type:protein-coding
Sets:V
PharmGKB ID:PA38397
HPRD ID:07311
Substrates:thiamine (Vitamin B1)
Trivial Names:BBGD, THMD2, THTR2
Transcripts:NM_025243.3 [Chr.2(-): 228549926-228582745 GRCh37]
XM_005246871.1 [Chr.2(-): 228549926-228582814 GRCh37]
XM_005246874.1 [Chr.2(-): 228550571-228582715 GRCh37]
XM_005246873.1 [Chr.2(-): 228550571-228579328 GRCh37]
XM_005246872.1 [Chr.2(-): 228550571-228571227 GRCh37]
XM_005246875.1 [Chr.2(-): 228552904-228582814 GRCh37]
ENST00000258403 [Chr.2(-): 228550571-228582728 GRCh37]
ENST00000409287 [Chr.2(-): 228550571-228582726 GRCh37]
ENST00000409456 [Chr.2(-): 228564269-228582717 GRCh37]
ENST00000419059 [Chr.2(-): 228564238-228567693 GRCh37]
ENST00000425817 [Chr.2(-): 228549926-228582726 GRCh37]
ENST00000431622 [Chr.2(-): 228564113-228582715 GRCh37]
ENST00000456524 [Chr.2(-): 228564034-228579328 GRCh37]
ENST00000477697 [Chr.2(-): 228566323-228582715 GRCh37]
ENST00000541617 [Chr.2(-): 228551905-228582715 GRCh37]
Annotation History:View Events (43)

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 SLC19A3.

Variant Data

View all PMT variants for SLC19A3 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:

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.