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Slc19a2
Gene Detail
 Symbol
Name
ID
Slc19a2
solute carrier family 19 (thiamine transporter), member 2
MGI:1928761
Synonyms DDA1, THTR1, TRMA
Feature Type protein coding gene
Genetic Map
Chromosome 1
71.56 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr1:164249046-164265385 bp, + strand
From VEGA annotation of GRCm38

  16340 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:38258  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: folate/thiamine transporter
Gene Tree: Slc19a2

Human
homologs
Human Homolog SLC19A2, solute carrier family 19 (thiamine transporter), member 2
NCBI Gene ID 10560
neXtProt AC  NX_O60779
Human Synonyms  TC1, THMD1, THT1, THTR1, TRMA
Human Chr (Location)  1q23.3; chr1:169463909-169485970 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human SLC19A2
Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Gene trapped(4) Targeted(6)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for targeted null alleles exhibit a grossly normal phenotype except for reduced testis size and male infertility. On a low-thiamine diet, mutants show premature death and sensorineural deafness, while homozygotes for one targeted allele also display diabetes mellitus and megaloblastosis.
 
Human Diseases Modeled Using Mouse Slc19a2 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Slc19a2 interacts with 310 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (10 annotations)
Process drug transmembrane transport, thiamine transmembrane transport, ...
Component plasma membrane
Function thiamine transmembrane transporter activity, thiamine uptake transmembrane transporter activity
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (13)    Tissues (12)   
Theiler Stages: 10, 18, 23, 25, 28
Assay TypeResults
Northern blot 1
RT-PCR 12
cDNA source data(37)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(40) cDNA(37) Primer pair(2) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000031583 (Evidence)
Ensembl Gene ModelENSMUSG00000040918 (Evidence)
Entrez Gene116914 (Evidence)
UniGene35444
DFCITC1579988, TC1596662
DoTSDT.101366381, DT.486417
NIA Mouse Gene IndexU001018
Consensus CDS ProjectCCDS15433.1, CCDS69968.1
International Mouse Knockout Project StatusSlc19a2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031583 VEGA Gene Model | MGI Sequence Detail 16340 C57BL/6J ±  kb
transcript OTTMUST00000078223 VEGA | MGI Sequence Detail 3571 Not Applicable 
polypeptide OTTMUSP00000041576 VEGA | MGI Sequence Detail 498 Not Applicable 

For the selected sequences
All sequences(43) RefSeq(4) UniProt(5)
Polymorphisms SNPs within 2kb(236 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR016196 Major facilitator superfamily domain, general substrate transporter
InterPro IPR002666 Reduced folate carrier
Protein Ontology PR:000014970 thiamine transporter 1
References (Earliest) J:72002 Fleming JC, et al., Characterization of a murine high-affinity thiamine transporter, slc19a2. Mol Genet Metab. 2001 Sep-Oct;74(1-2):273-80
(Latest) J:183439 Subramanian VS, et al., Relative contribution of THTR-1 and THTR-2 in thiamin uptake by pancreatic acinar cells: studies utilizing Slc19a2 and Slc19a3 knockout mouse models. Am J Physiol Gastrointest Liver Physiol. 2012 Mar;302(5):G572-8
All references(38)
Disease annotation references (1)
Other
accession IDs
MGI:2138530, MGI:2138585

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory