Version 5.4
| Mus musculus Gene: Slc19a2 | |||||||||
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| Summary | |||||||||
| InnateDB Gene | IDBG-202419.6 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | Slc19a2 | ||||||||
| Gene Name | solute carrier family 19 (thiamine transporter), member 2 | ||||||||
| Synonyms | |||||||||
| Species | Mus musculus | ||||||||
| Ensembl Gene | ENSMUSG00000040918 | ||||||||
| Encoded Proteins |
solute carrier family 19 (thiamine transporter), member 2
solute carrier family 19 (thiamine transporter), member 2
solute carrier family 19 (thiamine transporter), member 2
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| Protein Structure | |||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||
| Entrez Gene | |||||||||
| Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000117479:
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. [provided by RefSeq, Jul 2008] |
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| Gene Information | |||||||||
| Type | Protein coding | ||||||||
| Genomic Location | Chromosome 1:164249046-164265385 | ||||||||
| Strand | Forward strand | ||||||||
| Band | H2.2 | ||||||||
| Transcripts |
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| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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| Gene Ontology | |||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||
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Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathway Predictions based on Human Orthology Data | |||||||||
| NETPATH | |||||||||
| REACTOME |
Vitamin B1 (thiamin) metabolism pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
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| KEGG | |||||||||
| INOH | |||||||||
| PID NCI | |||||||||
| Cross-References | |||||||||
| SwissProt | |||||||||
| TrEMBL | E9Q2R3 Q8R4Y1 Q99KT3 Q9EQN9 | ||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 116914 | ||||||||
| UniGene | Mm.35444 Mm.400175 | ||||||||
| RefSeq | NM_001276455 NM_054087 | ||||||||
| OMIM | |||||||||
| CCDS | CCDS15433 CCDS69968 | ||||||||
| HPRD | |||||||||
| IMGT | |||||||||
| MGI ID | MGI:1928761 | ||||||||
| MGI Symbol | Slc19a2 | ||||||||
| EMBL | AC105161 AF179403 AF216204 AF224341 AF326916 AF360396 AF418986 BC004021 BC034659 CH466520 | ||||||||
| GenPept | AAG43424 AAH04021 AAH34659 AAK33067 AAL11497 AAL30451 AAL85635 AAM47550 EDL39259 | ||||||||
| RNA Seq Atlas | 116914 | ||||||||