SLCtables

SLC19A3

Protein name: THTR2 Aliases: ThTr2 Substrates: thiamine Transport type: Facilitated transporter Tissue and cellular expression: ubiquitous Subcellular expression: Plasma membrane; apical membrane small intestine - role in intestinal thiamine absorption Disease: Thiamine and biotin responsive subacute encephalopathy [OMIM: 607483] Locus: 2q37 Sequence ID: NP_079519.1, NM_025243.3 Gene ID: 80704 Splice variants: N/D

S19A3_HUMAN (UniProt)

Gene names: SLC19A3
Protein names and data: S19A3_HUMAN, Full=Thiamine transporter 2;Short=ThTr-2;Short=ThTr2, Full=Solute carrier family 19 member 3; Length: 496 a.a., Mass: 55665 Da,
fasta formatted sequence
Function: Mediates high affinity thiamine uptake, propably via a proton anti-port mechanism. Has no folate transport activity
Disease: (OMIM: 606152 607483) Defects in SLC19A3 are the cause of biotin-responsive basal ganglia disease (BBGD) [MIM:607483]. BBGD is a recessive disorder with childhood onset that presents as a subacute encephalopathy, with confusion, dysarthria, and dysphagia, and that progresses to severe rigidity, dystonia, quadriparesis and death if not treated
Cellular location: Membrane; Multi-pass membrane protein (Potential)
Tissue specificity: Widely expressed but most abundant in placenta, kidney and liver

Database cross-references

UniProt: Q9BZV2
NextBio: 70999
OMIM: 606152 607483
Ensembl: ENST00000425817
GeneCard: GC02M227685
PharmGenUCSF: SLC19A3
Guide to Pharmacology: SLC19A3 (1016)
SLC19 family of vitamin transporters (1016)
HGNC: HGNC:16266

Genetic variants

See also Ensembl:ENST00000425817

23 - 23 G -> V (in BBGD). VAR_025992
174 - 174 V -> I (in dbSNP:rs59736804). VAR_061864 59736804
350 - 350 V -> A (in dbSNP:rs34507036). VAR_052405 34507036
422 - 422 T -> A (in BBGD). VAR_025993