U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 116914, updated on 5-Mar-2024

Summary

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

General gene information

Markers

Gene Ontology Provided by MGI

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 
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

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001276455.1NP_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:28421
    Folate_carrier; Reduced folate carrier
  2. NM_054087.3NP_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:28459
    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)