SLC19A2
Thiamine transporter 1
Protein Summary
High-affinity transporter for the intake of thiamine. This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
- ENST00000236137
- ENSP00000236137
- ENSG00000117479
- ENST00000367804
- ENSP00000356778
- ENST00000646527
- ENSP00000495500
- THT1
- TRMA
- TC1
- THT1
- TRMA
- THMD1
- THTR1
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
transcription factor binding site profile | 0.92 | ||
histone modification site profile | 0.86 | ||
pathway | 0.78 | ||
microRNA | 0.71 | ||
molecular function | 0.67 | ||
Protein Classes
IDG Development Level Summary
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: 156.19 (req: < 5)
Gene RIFs: 47 (req: <= 3)
Antibodies: 80 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 156.19 (req: >= 5)
Gene RIFs: 47 (req: > 3)
Antibodies: 80 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 6
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0