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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu18269 NM_006996 Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu18269C NM_006996 Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA. Customized vector On-demand 7-9 $269.00

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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?

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