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 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; chr1:169433147-169455208 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SLC19A2

Alleles and phenotypes

All alleles(10) : Targeted(6) Gene trapped(4)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (5 annotations)

Process	thiamine 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 Type	Results
Northern blot	1
RT-PCR	12

cDNA source data(37)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(40) cDNA(37) Primer pair(2) Other(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000031583 (Evidence)
Ensembl Gene Model	ENSMUSG00000040918 (Evidence)
Entrez Gene	116914 (Evidence)
UniGene	35444
DFCI	TC1579988, TC1596662
DoTS	DT.101366381, DT.486417
NIA Mouse Gene Index	U001018
Consensus CDS Project	CCDS15433.1
International Mouse Knockout Project Status	Slc19a2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000031583	VEGA Gene Model | MGI Sequence Detail	16340	C57BL/6J
transcript	OTTMUST00000078223	VEGA | MGI Sequence Detail	3571	Not Applicable
polypeptide	OTTMUSP00000041576	VEGA | MGI Sequence Detail	498	Not Applicable

All sequences(43) RefSeq(4) UniProt(5)

Polymorphisms

SNPs(121 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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(37)

Other accession IDs

MGI:2138530, MGI:2138585