Identity
HGNC
LOCATION
1q24.2
LOCUSID
ALIAS
TC1,THMD1,THT1,THTR1,TRMA
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10560
MIM: 603941
HGNC: 10938
Ensembl: ENSG00000117479
Variants:
dbSNP: 10560
ClinVar: 10560
TCGA: ENSG00000117479
COSMIC: SLC19A2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35686496 | 2022 | Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia. | 0 |
| 35686496 | 2022 | Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia. | 0 |
| 33649974 | 2021 | The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2. | 1 |
| 33649974 | 2021 | The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2. | 1 |
| 32498429 | 2020 | 3'-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women. | 7 |
| 32683950 | 2020 | Posttranscriptional regulation of thiamin transporter-1 expression by microRNA-200a-3p in pancreatic acinar cells. | 3 |
| 33008889 | 2020 | pH-dependent pyridoxine transport by SLC19A2 and SLC19A3: Implications for absorption in acidic microclimates. | 8 |
| 32498429 | 2020 | 3'-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women. | 7 |
| 32683950 | 2020 | Posttranscriptional regulation of thiamin transporter-1 expression by microRNA-200a-3p in pancreatic acinar cells. | 3 |
| 33008889 | 2020 | pH-dependent pyridoxine transport by SLC19A2 and SLC19A3: Implications for absorption in acidic microclimates. | 8 |
| 30833467 | 2019 | Loss-of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes. | 8 |
| 31296181 | 2019 | TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report. | 5 |
| 31951336 | 2019 | A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. | 0 |
| 30833467 | 2019 | Loss-of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes. | 8 |
| 31296181 | 2019 | TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report. | 5 |
Citation
Dessen P
SLC19A2 (solute carrier family 19 member 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-03-01
Online version: http://atlasgeneticsoncology.org/gene/53830/slc19a2-(solute-carrier-family-19-member-2)
