SLC19A2 solute carrier family 19 member 2
Gene ID: 10560, updated on 5-Mar-2024Gene type: protein coding
Also known as: TC1; THT1; TRMA; THMD1; THTR1
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC19A2
- Go to Variation Viewer for SLC19A2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. GeneReviews: Not available | |
| Genetics of venous thrombosis: insights from a new genome wide association study. GeneReviews: Not available | |
| Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | See labs |
Genomic context
- Location:
- 1q24.2
- Sequence:
- Chromosome: 1; NC_000001.11 (169463909..169485970, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC19A2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SLC19A2 database
- Variation ViewerRelated Variants
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