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SLC19A2 solute carrier family 19 (thiamine transporter), member 2 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_006996 Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Gene Symbol SLC19A2
Entrez Gene ID 10560
Full Name solute carrier family 19 (thiamine transporter), member 2
Synonyms TC1, THMD1, THT1, THTR1, TRMA
General protein information
Preferred Names
thiamine transporter 1
Names
thiamine transporter 1
thTr-1
solute carrier family 19 member 2
high affinity thiamine transporter
reduced folate carrier protein (RFC) like
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1q23.3

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].
Disorder

MIM: 603941

Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)

mRNA Protein Product Sequence Price Select
NM_006996, 170671735 NP_008927, 27734719 thiamine transporter 1 ORF Sequence $550.00
KEGG
hsa04977Vitamin digestion and absorption
Reactome
REACT_11238Metabolism of water-soluble vitamins and cofactors
REACT_11117Vitamin B1 (thiamin) metabolism
REACT_11193Metabolism of vitamins and cofactors
REACT_111217Metabolism
REACT_116125Disease
REACT_169132Defective CUBN causes hereditary megaloblastic anemia 1
REACT_169429Defects in cobalamin (B12) metabolism
REACT_169169Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC
REACT_169256Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD
REACT_169120Defective TCN2 causes hereditary megaloblastic anemia
REACT_169318Defective MMAB causes methylmalonic aciduria type cblB
REACT_169415Defective GIF causes intrinsic factor deficiency
REACT_169439Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE
REACT_169280Defective AMN causes hereditary megaloblastic anemia 1
REACT_169313Defective MUT causes methylmalonic aciduria mut type
REACT_169312Defective HLCS causes multiple carboxylase deficiency
REACT_169363Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF
REACT_169149Defective MTR causes methylmalonic aciduria and homocystinuria type cblG
REACT_169316Defective MMAA causes methylmalonic aciduria type cblA
REACT_169178Defective CD320 causes methylmalonic aciduria
REACT_169385Defects in vitamin and cofactor metabolism
REACT_169238Defects in biotin (Btn) metabolism
REACT_169403Defective BTD causes biotidinase deficiency
Homo sapiens (human)SLC19A2NP_008927.1
Pan troglodytes (chimpanzee)SLC19A2XP_524958.2
Macaca mulatta (Rhesus monkey)SLC19A2XP_001093667.1
Canis lupus familiaris (dog)SLC19A2XP_850843.2
Bos taurus (cattle)SLC19A2NP_001192939.1
Mus musculus (house mouse)Slc19a2NP_473428.1
Rattus norvegicus (Norway rat)Slc19a2NP_001025195.1
Gallus gallus (chicken)SLC19A2XP_425529.2
Danio rerio (zebrafish)slc19a2XP_005168792.1
Drosophila melanogaster (fruit fly)CG17036NP_609584.1
Caenorhabditis elegansfolt-1NP_505833.3
Xenopus (Silurana) tropicalis (western clawed frog)LOC100489793XP_002935829.1
Process
IDNameEvidence
GO:0006766vitamin metabolic processTAS
GO:0006767water-soluble vitamin metabolic processTAS
GO:0015884folic acid transportNAS
GO:0015888thiamine transportNAS
GO:0042723thiamine-containing compound metabolic processTAS
GO:0044281small molecule metabolic processTAS
GO:0071934thiamine transmembrane transportIDA
GO:0071934thiamine transmembrane transportIEA
GO:0071934thiamine transmembrane transportISS
GO:0071934thiamine transmembrane transportTAS
Component
IDNameEvidence
GO:0005886plasma membraneIDA
GO:0005886plasma membraneTAS
GO:0016021integral component of membraneNAS
Function
IDNameEvidence
GO:0005515protein bindingIPI
GO:0008517folic acid transporter activityNAS
GO:0015234thiamine transmembrane transporter activityTAS
GO:0015403thiamine uptake transmembrane transporter activityIDA
GO:0015403thiamine uptake transmembrane transporter activityISS
GeneCards SLC19A2
UniProt O60779
Vega OTTHUMG00000035452
MIM 603941
Ensembl ENSG00000117479
HGNC 10938
HPRD 04897

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the SLC19A2 gene?

The SLC19A2 gene provides instructions for making a protein called thiamine transporter 1. This protein is located on the surface of cells, where it works to bring vitamin B1 (thiamine) into cells. Thiamine helps the body convert carbohydrates into energy, and it is also essential for the functioning of the heart, muscles, and nervous system. This vitamin must be obtained from the diet because the body cannot produce thiamine on its own. Many different foods contain thiamine, including whole grains, pasta, fortified breads and cereals, lean meats, fish, and beans.

Interactant

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