Homo sapiens Gene: SLC19A2
Summary
InnateDB Gene IDBG-104661.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC19A2
Gene Name solute carrier family 19 (thiamine transporter), member 2
Synonyms TC1; THMD1; THT1; THTR1; TRMA;
Species Homo sapiens
Ensembl Gene ENSG00000117479
Encoded Proteins
solute carrier family 19 (thiamine transporter), member 2
solute carrier family 19 (thiamine transporter), member 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:169463909-169486003
Strand Reverse strand
Band q24.2
Transcripts
ENST00000236137 ENSP00000236137
ENST00000367804 ENSP00000356778
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008517 folic acid transporter activity
GO:0015234 thiamine transmembrane transporter activity
GO:0015403 thiamine uptake transmembrane transporter activity
Biological Process
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0006810 transport
GO:0015884 folic acid transport
GO:0015888 thiamine transport
GO:0042723 thiamine-containing compound metabolic process
GO:0044281 small molecule metabolic process
GO:0055085 transmembrane transport
GO:0071934 thiamine transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
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
Vitamin B1 (thiamin) metabolism 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
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt O60779
TrEMBL A0A024R8Y5 A0A024R928
UniProt Splice Variant
Entrez Gene 10560
UniGene Hs.30246 Hs.618507 Hs.622036
RefSeq NM_006996
HUGO HGNC:10938
OMIM 603941
CCDS CCDS1280
HPRD
IMGT
EMBL AF135488 AF153330 AF158233 AF160186 AF160756 AF160812 AF272359 AJ237724 AJ238413 AK304021 AK313779 AK316465 AL021068 BC018514 CH471067
GenPept AAD43534 AAD45985 AAD51280 AAD51283 AAD54242 AAF15129 AAH18514 AAK54468 BAG36517 BAG64936 BAH14836 CAB50770 CAB50771 CAI19780 CAI19782 EAW90843 EAW90845 EAW90846 EAW90847
RNA Seq Atlas 10560