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Slc19a2 solute carrier family 19 (thiamine transporter), member 2 [ Mus musculus (house mouse) ]

Gene ID: 116914, updated on 12-May-2024

Summary

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Official Symbol
Slc19a2provided by MGI
Official Full Name
solute carrier family 19 (thiamine transporter), member 2provided by MGI
Primary source
MGI:MGI:1928761
See related
Ensembl:ENSMUSG00000040918 AllianceGenome:MGI:1928761
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
DDA1; TRMA; THTR1; ThTr-1
Summary
Enables thiamine transmembrane transporter activity. Involved in thiamine transmembrane transport. Acts upstream of or within thiamine transport. Located in plasma membrane. Is expressed in embryo; liver; and skeletal muscle. Used to study thiamine-responsive megaloblastic anemia syndrome. Human ortholog(s) of this gene implicated in diabetes mellitus; megaloblastic anemia; and thiamine-responsive megaloblastic anemia syndrome. Orthologous to human SLC19A2 (solute carrier family 19 member 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in liver adult (RPKM 32.8), liver E18 (RPKM 17.1) and 27 other tissues See more
Orthologs
human all
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Genomic context

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See Slc19a2 in Genome Data Viewer
Location:
1 H2.2; 1 71.56 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (164076615..164092954)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (164249046..164265385)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene selectin, platelet Neighboring gene predicted gene 16548 Neighboring gene coagulation factor V Neighboring gene STARR-positive B cell enhancer ABC_E4371 Neighboring gene microRNA 12178 Neighboring gene STARR-seq mESC enhancer starr_02865 Neighboring gene STARR-seq mESC enhancer starr_02866 Neighboring gene STARR-seq mESC enhancer starr_02867 Neighboring gene coiled-coil domain containing 181 Neighboring gene STARR-positive B cell enhancer ABC_E797 Neighboring gene basic leucine zipper nuclear factor 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype. Liberman MC, et al. J Assoc Res Otolaryngol, 2006 Sep. PMID 16642288, Free PMC Article
  2. Male infertility due to germ cell apoptosis in mice lacking the thiamin carrier, Tht1. A new insight into the critical role of thiamin in spermatogenesis. Oishi K, et al. Dev Biol, 2004 Feb 15. PMID 14738878
  3. Male infertility and thiamine-dependent erythroid hypoplasia in mice lacking thiamine transporter Slc19a2. Fleming JC, et al. Mol Genet Metab, 2003 Sep-Oct. PMID 14567973
  4. Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice. Oishi K, et al. Hum Mol Genet, 2002 Nov 1. PMID 12393806
  5. Identification of transcriptional start sites and splicing of mouse thiamine transporter gene THTR-1 (Slc19a2). Lo PK, et al. Biochim Biophys Acta, 2002 Jun 7. PMID 12031504

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. both mTHTR-1 and mTHTR-2 are involved in carrier-mediated thiamin uptake by pancreatic acinar cells.
    Title: Relative contribution of THTR-1 and THTR-2 in thiamin uptake by pancreatic acinar cells: studies utilizing Slc19a2 and Slc19a3 knockout mouse models.
  2. Pancreatic beta cells and islets take up thiamine by a regulated THTR1/2-mediated process.
    Title: Pancreatic beta cells and islets take up thiamin by a regulated carrier-mediated process: studies using mice and human pancreatic preparations.
  3. Data describe the characterization of the testis-specific effects of absence of the high-affinity thiamin transporter, Tht1.
    Title: Male infertility due to germ cell apoptosis in mice lacking the thiamin carrier, Tht1. A new insight into the critical role of thiamin in spermatogenesis.
  4. Intestinal and renal thiamin uptake are developmentally regulated during early stages of life, mediated through mTHTR-1 and mTHTR-2, and suggest the possible involvement of transcriptional regulatory mechanism(s) in this regulation
    Title: Developmental maturation of intestinal and renal thiamin uptake: studies in wild-type and transgenic mice carrying human THTR-1 and 2 promoters.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (3)  1 citation

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables thiamine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables thiamine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables thiamine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables thiamine transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
  
enables vitamin transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in pyridoxine transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in pyridoxine transport ISO
Inferred from Sequence Orthology
more info
  
involved_in spermatogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in thiamine diphosphate biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within thiamine transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in thiamine transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in thiamine transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in thiamine transport IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within thiamine transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in thiamine transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in thiamine transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in thiamine transport ISO
Inferred from Sequence Orthology
more info
  
involved_in transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in vitamin transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IC
Inferred by Curator
more info
 PubMed 
is_active_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
thiamine transporter 1
Names
solute carrier family 19 member 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001276455.1 → NP_001263384.1  thiamine transporter 1 isoform b

    See identical proteins and their annotated locations for NP_001263384.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded isoform (b) is shorter compared to isoform a.
    Source sequence(s)
    AC105161, AK044825, BC034659
    Consensus CDS
    CCDS69968.1
    UniProtKB/Swiss-Prot
    Q9EQN9
    Related
    ENSMUSP00000123870.2, ENSMUST00000159230.8
    Conserved Domains (1) summary
    pfam01770
    Location:28 → 421
    Folate_carrier; Reduced folate carrier

  2. NM_054087.3 → NP_473428.1  thiamine transporter 1 isoform a

    See identical proteins and their annotated locations for NP_473428.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AK044825, BC034659
    Consensus CDS
    CCDS15433.1
    UniProtKB/Swiss-Prot
    Q8BRH5, Q8R4Y1, Q9EQN9
    Related
    ENSMUSP00000037561.6, ENSMUST00000044021.12
    Conserved Domains (1) summary
    pfam01770
    Location:28 → 459
    Folate_carrier; Reduced folate carrier

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    164076615..164092954
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9EQN9.1 GenPept UniProtKB/Swiss-Prot:Q9EQN9

Gene LinkOut

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