SLC19A2 (Thiamine Transporter 1)
Solute Carrier Family 19 Member 2: Key in Thiamine Homeostasis and TRMA Syndrome
Gene Information Card
| Symbol | SLC19A2 |
|---|---|
| Full Name | Solute Carrier Family 19 Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q24.2 |
| NCBI Gene ID | 10560 ncbi.nlm.nih.gov/gene/10560 |
| Ensembl ID | ENSG00000117479 |
| UniProt ID | O60779 |
| OMIM ID | 603941 |
| HGNC ID | 10973 |
| Aliases | THTR1, THT1, TC1, TRMA |
Description
SLC19A2 encodes the high-affinity thiamine transporter 1 (THTR1), a transmembrane protein responsible for cellular uptake of thiamine (vitamin B1). Thiamine is essential for carbohydrate metabolism and neural function. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anemia syndrome (TRMA), characterized by diabetes mellitus, megaloblastic anemia, and sensorineural deafness.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Thiamine-responsive megaloblastic anemia syndrome (TRMA) | Loss-of-function mutations impair thiamine transport, leading to intracellular thiamine deficiency, mitochondrial dysfunction, and apoptosis in pancreatic beta cells, erythroid precursors, and cochlear hair cells. | OMIM #249270; ClinVar; multiple case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 5.2 | Low |
| Kidney | 4.8 | Low |
| Small intestine | 3.1 | Low |
| Pancreas | 2.5 | Low |
| Skeletal muscle | 1.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 3.0 | Moderate expression in transfected cells |
| K562 | 1.2 | Low endogenous expression |
| HepG2 | 2.1 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.196G>A (p.Gly66Arg) | Missense | Rare | Loss of thiamine transport activity |
| c.242A>G (p.Tyr81Cys) | Missense | Rare | Impaired protein trafficking |
| c.458C>T (p.Pro153Leu) | Missense | Rare | Reduced thiamine uptake |
| c.622C>T (p.Arg208*) | Nonsense | Rare | Truncated non-functional protein |
Mutation functional classification
Loss of Function (LOF)
Most SLC19A2 mutations result in loss of thiamine transport function, causing TRMA.
Gain of Function (GOF)
Not described.
Dominant Negative (DN)
Not described; TRMA is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Thiamine transmembrane transporter activity (GO:0015234) | • Thiamine transport (GO:0015888) |
| • Plasma membrane (GO:0005886) | • Integral component of membrane (GO:0016021) |
Pathways
• Thiamine metabolism (Reactome: R-HSA-196849)
• Vitamin B1 (thiamine) transport (Reactome: R-HSA-199220)
Protein Summary
THTR1 is a 497-amino acid protein with 12 transmembrane domains, localized to the plasma membrane and endosomes. It mediates high-affinity thiamine uptake (Km ~2.5 µM) in a pH-dependent manner. The protein is widely expressed but critical in tissues with high thiamine demand, such as pancreatic islets and hematopoietic cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC19A2 Knockout HEK293 Cell Line | EDJ-KQ7089 | Human | 10560 | Details Get a Quote |
| SLC19A2 Knockout A-549 Cell Line | EDJ-KQ31933 | Human | 10560 | Details Get a Quote |
| SLC19A2 Knockout HCT 116 Cell Line | EDJ-KQ31934 | Human | 10560 | Details Get a Quote |
| SLC19A2 Knockout HeLa Cell Line | EDJ-KQ31935 | Human | 10560 | Details Get a Quote |
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