| 1311413 | Slc19a3 | solute carrier family 19 member 3 | ENCODES a protein that exhibits thiamine transmembrane transporter activity (ortholog); INVOLVED IN pyridoxine transport (ortholog); thiamine diphosphate biosynthetic process (ortholog); thiamine transmembrane transport (ortholog); ASSOCIATED WITH chronic kidney disease; basal ganglia disease (ortho log); biotin-responsive basal ganglia disease (ortholog); FOUND IN plasma membrane (ortholog); INTERACTS WITH 6-propyl-2-thiouracil; bisphenol A; lead diacetate | 9 | 91723799 | 91747499 | Rat | 103 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 1322863 | SLC19A3 | solute carrier family 19 member 3 | 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, quadripar esis, 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] | 2 | 227683763 | 227718028 | Human | 234 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1551788 | Slc19a3 | solute carrier family 19, member 3 | Enables thiamine transmembrane transporter activity. Involved in thiamine diphosphate biosynthetic process and thiamine transmembrane transport. Is active in plasma membrane. Used to study biotin-responsive basal ganglia disease. Human ortholog(s) of this gene implicated in biotin-responsive basal g anglia disease. Orthologous to human SLC19A3 (solute carrier family 19 member 3). [provided by Alliance of Genome Resources, Jul 2025] | 1 | 82990242 | 83016541 | Mouse | 127 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 8798281 | Slc19a3 | solute carrier family 19 member 3 | ENCODES a protein that exhibits thiamine transmembrane transporter activity (ortholog); INVOLVED IN pyridoxine transport (ortholog); thiamine diphosphate biosynthetic process (ortholog); thiamine transmembrane transport (ortholog); ASSOCIATED WITH basal ganglia disease (ortholog); biotin-responsive basal ganglia disease (ortholog); chronic kidney disease (ortholog); FOUND IN plasma membrane (ortholog) | NW_004955453 | 6935372 | 6957808 | Chinchilla | 20 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11891009 | SLC19A3 | solute carrier family 19 member 3 | ENCODES a protein that exhibits thiamine transmembrane transporter activity (inferred); vitamin transmembrane transporter activity (inferred); INVOLVED IN pyridoxine transport (inferred); thiamine diphosphate biosynthetic process (inferred); thiamine transmembrane transport (inferred); ASSOCIATED WI TH basal ganglia disease (ortholog); biotin-responsive basal ganglia disease (ortholog); chronic kidney disease (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) | 2B | 114925990 | 114957841 | Bonobo | 30 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18698074 | SLC19A3 | solute carrier family 19 member 3 | ENCODES a protein that exhibits thiamine transmembrane transporter activity (inferred); vitamin transmembrane transporter activity (inferred); INVOLVED IN pyridoxine transport (inferred); thiamine diphosphate biosynthetic process (inferred); thiamine transmembrane transport (inferred); ASSOCIATED WI TH basal ganglia disease (ortholog); biotin-responsive basal ganglia disease (ortholog); chronic kidney disease (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) | | | | Green Monkey | 28 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 625905603 | Slc19a3 | solute carrier family 19 member 3 | ENCODES a protein that exhibits thiamine transmembrane transporter activity (ortholog); INVOLVED IN pyridoxine transport (ortholog); thiamine diphosphate biosynthetic process (ortholog); thiamine transmembrane transport (ortholog); ASSOCIATED WITH basal ganglia disease (ortholog); biotin-responsive basal ganglia disease (ortholog); chronic kidney disease (ortholog); FOUND IN plasma membrane (ortholog) | | | | Black Rat | 20 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14074381 | SLC19A3 | solute carrier family 19 member 3 | ENCODES a protein that exhibits thiamine transmembrane transporter activity (inferred); vitamin transmembrane transporter activity (inferred); INVOLVED IN pyridoxine transport (inferred); thiamine diphosphate biosynthetic process (inferred); thiamine transmembrane transport (inferred); ASSOCIATED WI TH basal ganglia disease (ortholog); biotin-responsive basal ganglia disease (ortholog); chronic kidney disease (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred); INTERACTS WITH deoxynivalenol | | | | Pig | 27 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18912317 | Slc19a3 | solute carrier family 19 member 3 | ENCODES a protein that exhibits thiamine transmembrane transporter activity (inferred); vitamin transmembrane transporter activity (inferred); INVOLVED IN pyridoxine transport (ortholog); ASSOCIATED WITH basal ganglia disease (ortholog); biotin-responsive basal ganglia disease (ortholog); chronic ki dney disease (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) | | | | Naked Mole-Rat | 27 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 152177930 | SLC19A3 | solute carrier family 19 member 3 | | | | | Naked Mole-Rat | | symbol | gene, protein-coding |
| 155259524 | slc19a3.2 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 155247033 | slc19a3.2.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 12678081 | LOC101963615 | thiamine transporter 2 | ENCODES a protein that exhibits thiamine transmembrane transporter activity (inferred); vitamin transmembrane transporter activity (inferred); INVOLVED IN pyridoxine transport (inferred); thiamine diphosphate biosynthetic process (inferred); thiamine transmembrane transport (inferred); ASSOCIATED WI TH basal ganglia disease (ortholog); biotin-responsive basal ganglia disease (ortholog); chronic kidney disease (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) | NW_004936525 | 8323550 | 8339686 | Squirrel | 26 | old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 12390482 | LOC486151 | thiamine transporter 2 | ENCODES a protein that exhibits thiamine transmembrane transporter activity (inferred); vitamin transmembrane transporter activity (inferred); INVOLVED IN pyridoxine transport (inferred); thiamine diphosphate biosynthetic process (inferred); thiamine transmembrane transport (inferred); ASSOCIATED WI TH Leigh disease; basal ganglia disease (ortholog); biotin-responsive basal ganglia disease (ortholog); FOUND IN membrane (inferred); plasma membrane (inferred) | 25 | 40411489 | 40442183 | Dog | 24 | ensembl_gene_symbol , old_gene_symbol | gene, protein-coding, MODEL [RefSeq] |
| 16556772 | AC073324.1 | solute carrier family 19, member 3 (SLC19A3) pseudogene | | 7 | 55244247 | 55245681 | Human | | name | gene, pseudo, INFERRED [RefSeq] |
| 16563490 | AL391840.2 | solute carrier family 19, member 3 (SLC19A3) pseudogene | | | | | Human | | name | gene, processed_pseudogene |
