Thiamine transporter 2

Thiamine transporter 2 (ThTr-2), also known as solute carrier family 19 member 3, is a protein that in humans is encoded by the SLC19A3 gene.^[5][6][7] SLC19A3 is a thiamine transporter.

SLC19A3
Identifiers
Aliases	SLC19A3, BBGD, THMD2, THTR2, solute carrier family 19 member 3, thTr-2
External IDs	OMIM: 606152; MGI: 1931307; HomoloGene: 23530; GeneCards: SLC19A3; OMA:SLC19A3 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q36.3 Start 227,683,763 bp[1] End 227,718,028 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 C5|1 42.65 cM Start 82,990,244 bp[2] End 83,016,169 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in subcutaneous adipose tissue abdominal fat placenta right lung right lobe of liver jejunal mucosa gallbladder duodenum epithelium of colon testicle Top expressed in duodenum right kidney proximal tubule morula lumbar subsegment of spinal cord human kidney epithelium of lens embryo embryo visual cortex More reference expression data BioGPS n/a
Gene ontology Molecular function thiamine transmembrane transporter activity vitamin transmembrane transporter activity Cellular component integral component of membrane plasma membrane membrane Biological process thiamine-containing compound metabolic process thiamine transport thiamine transmembrane transport vitamin transport transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 80704 80721 Ensembl ENSG00000135917 ENSMUSG00000038496 UniProt Q9BZV2 Q99PL8 RefSeq (mRNA) NM_025243 NM_001371411 NM_001371412 NM_001371413 NM_001371414 NM_030556 RefSeq (protein) NP_079519 NP_001358340 NP_001358341 NP_001358342 NP_001358343 NP_085033 Location (UCSC) Chr 2: 227.68 – 227.72 Mb Chr 1: 82.99 – 83.02 Mb PubMed search [3] [4]
Wikidata
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Function

ThTr-2 is a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity.^[5]

It is specifically inhibited by chloroquine.^[8]

Clinical significance

Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild mental retardation, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.^[5]