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

    Gene ID: 116914, updated on 27-Nov-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 several processes, including pyridoxine transport; thiamine diphosphate biosynthetic process; and thiamine transmembrane transport. Is active in plasma membrane. Is expressed in several structures, including genitourinary system; heart; liver; lung; and spleen. 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, Nov 2024]
    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. Slc19a2: cloning and characterization of the murine thiamin transporter cDNA and genomic sequence, the orthologue of the human TRMA gene. Oishi K, et al. Mol Genet Metab, 2001 Jun. PMID 11386850
    2. 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
    3. Characterization of a murine high-affinity thiamine transporter, Slc19a2. Fleming JC, et al. Mol Genet Metab, 2001 Sep-Oct. PMID 11592824
    4. 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
    5. 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

    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
    		  
    Process Evidence Code Pubs
    involved_in 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
    		  
    Component Evidence Code Pubs
    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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