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    SLC19A2 solute carrier family 19 member 2 [ Homo sapiens (human) ]

    Gene ID: 10560, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SLC19A2provided by HGNC
    Official Full Name
    solute carrier family 19 member 2provided by HGNC
    Primary source
    HGNC:HGNC:10938
    See related
    Ensembl:ENSG00000117479 MIM:603941; AllianceGenome:HGNC:10938
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TC1; THT1; TRMA; THMD1; THTR1
    Summary
    This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
    Expression
    Ubiquitous expression in gall bladder (RPKM 20.8), fat (RPKM 13.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC19A2 in Genome Data Viewer
    Location:
    1q24.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (169463909..169485970, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (168819254..168841316, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (169433147..169455208, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATPase Na+/K+ transporting subunit beta 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2070 Neighboring gene NME/NM23 family member 7 Neighboring gene NANOG hESC enhancer GRCh37_chr1:169185155-169185723 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:169225944-169226549 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:169226550-169227154 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:169336872-169338071 Neighboring gene basic leucine zipper nuclear factor 1 Neighboring gene coiled-coil domain containing 181 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1546 Neighboring gene Sharpr-MPRA regulatory region 5964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2072 Neighboring gene MPRA-validated peak447 silencer Neighboring gene MPRA-validated peak448 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1250 Neighboring gene MPRA-validated peak449 silencer Neighboring gene Sharpr-MPRA regulatory region 2803 Neighboring gene coagulation factor V Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:169555193-169555694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:169555695-169556194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2075 Neighboring gene selectin P

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Thiamine-responsive megaloblastic anemia syndrome: a novel mutation. Yilmaz Agladioglu S, et al. Genet Couns, 2012. PMID 22876572
    2. Cell biology of the human thiamine transporter-1 (hTHTR1). Intracellular trafficking and membrane targeting mechanisms. Subramanian VS, et al. J Biol Chem, 2003 Feb 7. PMID 12454006
    3. Reduced folate carrier-1 G80a gene polymorphism is associated with neuroblastoma's development. de Miranda DO, et al. Mol Biol Rep, 2014 Aug. PMID 24771227
    4. Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2. Wood MC, et al. Psychiatry Clin Neurosci, 2014 Jun. PMID 24520986
    5. Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report. Akbari MT, et al. Eur J Pediatr, 2014 Dec. PMID 24357267

    See all (82) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia.
      Title: Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia.
    2. The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2.
      Title: The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2.
    3. pH-dependent pyridoxine transport by SLC19A2 and SLC19A3: Implications for absorption in acidic microclimates.
      Title: pH-dependent pyridoxine transport by SLC19A2 and SLC19A3: Implications for absorption in acidic microclimates.
    4. 3'-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women.
      Title: 3'-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women.
    5. Posttranscriptional regulation of thiamin transporter-1 expression by microRNA-200a-3p in pancreatic acinar cells.
      Title: Posttranscriptional regulation of thiamin transporter-1 expression by microRNA-200a-3p in pancreatic acinar cells.
    6. TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.
      Title: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.
    7. Besides reporting a novel mutation of the causative gene SLC19A2, we wanted to emphasize this syndrome in the aspect of coexistence of insulin dependent diabetes, transfusion dependent anemia and thrombocytopenia.
      Title: A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.
    8. Study demonstrate that SLC19A2 deficit causes impaired insulin secretion in conjunction with mitochondrial dysfunction, loss of protection against oxidative stress, and cell cycle arrest. These findings link SLC19A2 mutations to autosomal dominant diabetes and suggest a role of SLC19A2 in beta-cell function and survival.
      Title: Loss-of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes.
    9. SLC19A2 mutation is associated with permanent neonatal diabetes mellitus.
      Title: Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation.
    10. A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia.(
      Title: A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia.
    Submit: New GeneRIF Correction See all GeneRIFs (47)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    EBI GWAS Catalog
    Genetics of venous thrombosis: insights from a new genome wide association study.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables folic acid transmembrane transporter activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables thiamine transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in folic acid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pyridoxine transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in thiamine diphosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in thiamine transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in thiamine transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in thiamine-containing compound metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    thiamine transporter 1
    Names
    high affinity thiamine transporter
    reduced folate carrier protein (RFC) like
    solute carrier family 19 (thiamine transporter), member 2
    thTr-1
    thiamine-responsive megaloblastic anaemia

    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.

    Genomic

    1. NG_008255.1 RefSeqGene

      Range
      5027..27062
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001319667.1 → NP_001306596.1  thiamine transporter 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AF135488, BU608154, DB150382
      Consensus CDS
      CCDS81398.1
      UniProtKB/TrEMBL
      A0A024R8Y5
      Related
      ENSP00000356778.3, ENST00000367804.4
      Conserved Domains (1) summary
      cl27502
      Location:74 → 257
      Folate_carrier; Reduced folate carrier

    2. NM_006996.3 → NP_008927.1  thiamine transporter 1 isoform 1

      See identical proteins and their annotated locations for NP_008927.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF153330, AJ237724, BU608154
      Consensus CDS
      CCDS1280.1
      UniProtKB/Swiss-Prot
      B2R9H0, B4E1X4, O60779, Q8WV87, Q9UBL7, Q9UKJ2, Q9UN31, Q9UN43
      UniProtKB/TrEMBL
      A0A024R928, A0A0S2Z5K7, A0A2R8Y5B5
      Related
      ENSP00000236137.5, ENST00000236137.10
      Conserved Domains (1) summary
      pfam01770
      Location:28 → 458
      Folate_carrier; Reduced folate carrier

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      169463909..169485970 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      168819254..168841316 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60779.2 GenPept UniProtKB/Swiss-Prot:O60779

    Gene LinkOut

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

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