Tbio SLC19A3 Thiamine transporter 2

Protein Summary

Description

Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism. Has no folate transport activity. This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. 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 cognitive disability, 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.[provided by RefSeq, Jan 2010]

Uniprot Accession IDs

• Q9BZV2
• ThTr-2

Gene Name

• SLC19A3

Ensembl ID

• ENST00000258403
• ENSP00000258403
• ENSG00000135917
• ENST00000644224
• ENSP00000495385

Symbol

• BBGD
• THMD2
• THTR2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
pathway	0.78
PubMedID	0.64
disease perturbation	0.62
cell type or tissue	0.61
histone modification site profile	0.6

Protein Classes

PANTHER Classes

Protein / Transporter / Thiamine Transporter 2

DTO Classes

Protein / Transporter / Slc Superfamily Of Solute Carriers / Slc19 Family Of Vitamin Transporters / Thiamine Transporter 2

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 115.25   (req: < 5)

Gene RIFs: 37   (req: <= 3)

Antibodies: 115   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 115.25   (req: >= 5)

Gene RIFs: 37   (req: > 3)

Antibodies: 115   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 5

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0