SLC19A2

Protein name: THTR1 Aliases: ThTr1 Substrates: thiamine Transport type: Facilitated transporter Tissue and cellular expression: ubiquitous Subcellular expression: plasma membrane Disease: TRMA-thiamine-responsive megaloblastic anemia syndrome Locus: 1q23.3 Sequence ID: NP_008927.1, NM_006996.2 Gene ID: 10560 Splice variants: N/D

S19A2_HUMAN (UniProt)

Gene names: SLC19A2 , THT1, TRMA
Protein names and data: S19A2_HUMAN , Full=Thiamine transporter 1;Short=ThTr-1;Short=ThTr1 , Full=Solute carrier family 19 member 2;Full=Thiamine carrier 1;Short=TC1; Length: 497 a.a., Mass: 55400 Da,
fasta formatted sequence

Function: High-affinity transporter for the intake of thiamine
Disease:
Cellular location: Membrane; Multi-pass membrane protein
Tissue specificity: Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung

Database cross-references

UniProt: O60779
NextBio: 40077
OMIM: 249270 603941
Ensembl: ENST00000367804
GeneCard: GC01M169433
TCDB: 2.A.48.2.1
PharmGenUCSF: SLC19A2
Guide2Pharmacology: 194
HGNC: HGNC:10938

Genetic variants

See also Ensembl:ENST00000367804