SLC19A2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | SLC19A2 |
| Official Name | solute carrier family 19 member 2 [Source:HGNC Symbol;Acc:HGNC:10938] |
| Ensembl ID | ENSG00000117479 |
| Bio databases IDs | |
| Aliases | solute carrier family 19 member 2, thiamine-responsive megaloblastic anaemia, Thiamine transporter 1 |
| Synonyms | DDA1, solute carrier family 19 member 2, solute carrier family 19 (thiamine transporter), member 2, TC1, Thiamine carrier 1, THMD1, THT1, THTR1, TRMA |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SLC19A2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- reduced folate carrier
- Major Facilitator Superfamily
- thiamin transporter
- protein binding
- RFC reduced folate carrier
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- peripheral arterial disease
- thiamine-responsive megaloblastic anemia syndrome
- sensorineural hearing loss
- breast carcinoma
- thiamine-responsive megaloblastic anemia
- thrombocytosis
- azoospermia
- ear malformation
- ataxia
regulates
- reporter gene
- thiamine
- Ins1
role in cell
- number
- degeneration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- intracellular structures
- cell surface
- cellular membrane
- apical cell surfaces
- apical membrane
- membrane processes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC19A2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- pyridoxine transport
- thiamine-containing compound metabolic process
- folic acid transport
- transmembrane transport
- spermatogenesis
- thiamine transmembrane transport
- thiamine diphosphate biosynthetic process
- thiamine transport
Cellular Component
Where in the cell the gene product is active
- membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- thiamine transmembrane transporter activity
- folic acid transporter activity
- protein binding