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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 ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000258403
  • ENSP00000258403
  • ENSG00000135917
  • ENST00000644224
  • ENSP00000495385

Symbol
  • BBGD
  • THMD2
  • THTR2
Illumination Graph
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


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: 33   (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: 33   (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
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (5)
RESOLUTE
Thumbnail image for RESOLUTE
RESOLUTE is a public-private partnership with the goal of escalating research on solute carriers (SLCs) and to establish SLCs as a tractable target class for medical research and development.
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (40)
PDZK1P1
Tdark
p_int:  0.985019465
p_wrong:  0.014980534
Data Source:  BioPlex
SLC19A2
Tbio
Family:  Transporter
Novelty:  0.00761796
Score:  0.811
Data Source:  STRINGDB
RFC2
Tbio
Novelty:  0.02088405
Score:  0.655
Data Source:  STRINGDB
TPK1
Tbio
Family:  Kinase
Novelty:  0.00899463
Score:  0.647
Data Source:  STRINGDB
SLC25A33
Tbio
Family:  Transporter
Novelty:  0.17554778
Score:  0.639
Data Source:  STRINGDB
COX11
Tbio
Family:  Enzyme
Novelty:  0.02572582
Score:  0.629
Data Source:  STRINGDB
THTPA
Tbio
Family:  Enzyme
Novelty:  0.06922501
Score:  0.623
Data Source:  STRINGDB
SLC22A15
Tdark
Family:  Transporter
Novelty:  0.22792289
Score:  0.616
Data Source:  STRINGDB
SLC6A6
Tbio
Family:  Transporter
Novelty:  0.00333868
Score:  0.594
Data Source:  STRINGDB
SLC25A20
Tbio
Family:  Transporter
Novelty:  0.00503518
Score:  0.59
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (6)
Metabolism (R-HSA-1430728)

Click on a row in the table to change the structure displayed.

Find Similar Targets
Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Metabolism
Reactome
Metabolism of vitamins and cofactors
Reactome
Metabolism of water-soluble vitamins and cofactors
Reactome
Vitamin B1 (thiamin) metabolism
Name
Explore in Pharos
Explore in Source
Metabolism
Metabolism of vitamins and cofactors
Metabolism of water-soluble vitamins and cofactors
Vitamin B1 (thiamin) metabolism
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (9)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
childhood onset asthma
2
2
0
1.1
88.8
urinary albumin to creatinine ratio
1
1
1
80.5
age at onset
2
1
1
1.1
66.7
allergic disease
2
1
2
59.9
asthma
1
1
0
1.1
53.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
childhood onset asthma
0
1.1
88.8
urinary albumin to creatinine ratio
1
80.5
age at onset
1
1.1
66.7
allergic disease
2
59.9
asthma
0
1.1
53.8
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
solute carrier family 19 member 3
VGNC:14436
470667
Macaque
solute carrier family 19, member 3
709554
Mouse
MGI:1931307
80721
Rat
RGD:1311413
316559
Dog
thiamine transporter 2
486151
Species
Name
OMA
EggNOG
Inparanoid
Chimp
solute carrier family 19 member 3
Macaque
solute carrier family 19, member 3
Mouse
Rat
Dog
thiamine transporter 2
Publication Statistics
PubMed Score 115.25
PubMed score by year
PubTator Score 73.78
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title