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

Gene ID: 10560, updated on 2-Nov-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
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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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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 (81) 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)

Genotypes

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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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.

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

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