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Aliases for SLC19A3 Gene

Aliases for SLC19A3 Gene

  • Solute Carrier Family 19 (Thiamine Transporter), Member 3 2 3
  • Solute Carrier Family 19, Member 3 2 3
  • Thiamine Transporter 2 2 3
  • ThTr-2 3 4
  • THTR2 3 4
  • THMD2 3 6
  • BBGD 3 6
  • Solute Carrier Family 19 Member 3 4

External Ids for SLC19A3 Gene

Previous GeneCards Identifiers for SLC19A3 Gene

  • GC02M226571
  • GC02M227281
  • GC02M228513
  • GC02M228752
  • GC02M228375
  • GC02M228258
  • GC02M220392

Summaries for SLC19A3 Gene

Entrez Gene Summary for SLC19A3 Gene

  • This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild mental retardation, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]

GeneCards Summary for SLC19A3 Gene

SLC19A3 (Solute Carrier Family 19 (Thiamine Transporter), Member 3) is a Protein Coding gene. Diseases associated with SLC19A3 include thiamine metabolism dysfunction syndrome 2 and biotin-thiamine-responsive basal ganglia disease. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include folic acid binding and thiamine uptake transmembrane transporter activity. An important paralog of this gene is SLC19A2.

UniProtKB/Swiss-Prot for SLC19A3 Gene

  • Mediates high affinity thiamine uptake, propably via a proton anti-port mechanism. Has no folate transport activity.

Gene Wiki entry for SLC19A3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC19A3 Gene

Genomics for SLC19A3 Gene

Regulatory Elements for SLC19A3 Gene

Genomic Location for SLC19A3 Gene

Start:
227,685,210 bp from pter
End:
227,718,098 bp from pter
Size:
32,889 bases
Orientation:
Minus strand

Genomic View for SLC19A3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC19A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC19A3 Gene

Proteins for SLC19A3 Gene

  • Protein details for SLC19A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZV2-S19A3_HUMAN
    Recommended name:
    Thiamine transporter 2
    Protein Accession:
    Q9BZV2
    Secondary Accessions:

    Protein attributes for SLC19A3 Gene

    Size:
    496 amino acids
    Molecular mass:
    55665 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC19A3 Gene

Proteomics data for SLC19A3 Gene at MOPED

Post-translational modifications for SLC19A3 Gene

  • Glycosylation at Asn45 and Asn166
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC19A3 Gene

No data available for DME Specific Peptides for SLC19A3 Gene

Domains for SLC19A3 Gene

Gene Families for SLC19A3 Gene

Protein Domains for SLC19A3 Gene

Suggested Antigen Peptide Sequences for SLC19A3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BZV2

UniProtKB/Swiss-Prot:

S19A3_HUMAN :
  • Q9BZV2
Family:
  • Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family.
genes like me logo Genes that share domains with SLC19A3: view

Function for SLC19A3 Gene

Molecular function for SLC19A3 Gene

UniProtKB/Swiss-Prot Function: Mediates high affinity thiamine uptake, propably via a proton anti-port mechanism. Has no folate transport activity.

Gene Ontology (GO) - Molecular Function for SLC19A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015403 thiamine uptake transmembrane transporter activity ISS --
genes like me logo Genes that share ontologies with SLC19A3: view
genes like me logo Genes that share phenotypes with SLC19A3: view

Animal Models for SLC19A3 Gene

MGI Knock Outs for SLC19A3:

Animal Model Products

CRISPR Products

miRNA for SLC19A3 Gene

miRTarBase miRNAs that target SLC19A3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SLC19A3 Gene

Localization for SLC19A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC19A3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC19A3 Gene COMPARTMENTS Subcellular localization image for SLC19A3 gene
Compartment Confidence
plasma membrane 4
cytosol 1
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SLC19A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane --
GO:0016021 integral component of membrane NAS 11136550
genes like me logo Genes that share ontologies with SLC19A3: view

Pathways for SLC19A3 Gene

SuperPathways for SLC19A3 Gene

genes like me logo Genes that share pathways with SLC19A3: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Drug Transporters in human,mouse,rat

Interacting Proteins for SLC19A3 Gene

Gene Ontology (GO) - Biological Process for SLC19A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006810 transport --
GO:0042723 thiamine-containing compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with SLC19A3: view

Compounds for SLC19A3 Gene

(1) Drugbank Compounds for SLC19A3 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Cysteine
  • (R)-2-Amino-3-mercaptopropanoic acid
52-90-4 target

(1) IUPHAR Ligand for SLC19A3 Gene

Ligand Type Action Affinity Pubmed IDs
[3H]thiamine None None

(1) Novoseek inferred chemical compound relationships for SLC19A3 Gene

Compound -log(P) Hits PubMed IDs
thiamine 82.9 12
genes like me logo Genes that share compounds with SLC19A3: view

Transcripts for SLC19A3 Gene

Unigene Clusters for SLC19A3 Gene

Solute carrier family 19, member 3:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC19A3

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC19A3 Gene

No ASD Table

Relevant External Links for SLC19A3 Gene

GeneLoc Exon Structure for
SLC19A3
ECgene alternative splicing isoforms for
SLC19A3

Expression for SLC19A3 Gene

mRNA expression in normal human tissues for SLC19A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC19A3 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (13.6), Adipose - Subcutaneous (13.5), and Breast - Mammary Tissue (7.7).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for SLC19A3 Gene

SOURCE GeneReport for Unigene cluster for SLC19A3 Gene Hs.221597

mRNA Expression by UniProt/SwissProt for SLC19A3 Gene

Q9BZV2-S19A3_HUMAN
Tissue specificity: Widely expressed but most abundant in placenta, kidney and liver.
genes like me logo Genes that share expressions with SLC19A3: view

In Situ Assay Products

Orthologs for SLC19A3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC19A3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC19A3 35
  • 99.26 (n)
  • 98.59 (a)
SLC19A3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC19A3 35
  • 83.26 (n)
  • 81.74 (a)
SLC19A3 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC486151 35
  • 85.25 (n)
  • 82.42 (a)
SLC19A3 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc19a3 35
  • 75.36 (n)
  • 69.98 (a)
Slc19a3 16
Slc19a3 36
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 63 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SLC19A3 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc19a3 35
  • 73.83 (n)
  • 68.68 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 62 (a)
OneToMany
-- 36
  • 61 (a)
OneToMany
SLC19A3 35
  • 64.55 (n)
  • 62.37 (a)
lizard
(Anolis carolinensis)
Reptilia SLC19A3 36
  • 61 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC52872 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8267 35
zebrafish
(Danio rerio)
Actinopterygii LOC557854 35
  • 55.23 (n)
  • 48.02 (a)
slc19a3a 36
  • 43 (a)
OneToMany
slc19a3b 36
  • 45 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012955 35
  • 47.32 (n)
  • 37.61 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG14694 36
  • 32 (a)
ManyToMany
CG17036 36
  • 37 (a)
ManyToMany
CG6574 35
  • 49.31 (n)
  • 36.87 (a)
CG6574 36
  • 34 (a)
ManyToMany
CG6574 37
  • 33 (a)
CG14694 37
  • 32 (a)
CG17036 37
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea folt-1 36
  • 35 (a)
ManyToMany
folt-2 36
  • 33 (a)
ManyToMany
folt-3 36
  • 33 (a)
ManyToMany
F37B4.7 37
  • 32 (a)
C06H2.4 37
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToMany
Species with no ortholog for SLC19A3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC19A3 Gene

ENSEMBL:
Gene Tree for SLC19A3 (if available)
TreeFam:
Gene Tree for SLC19A3 (if available)

Paralogs for SLC19A3 Gene

Paralogs for SLC19A3 Gene

Selected SIMAP similar genes for SLC19A3 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for SLC19A3 Gene

genes like me logo Genes that share paralogs with SLC19A3: view

Variants for SLC19A3 Gene

Sequence variations from dbSNP and Humsavar for SLC19A3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs1819 -- 227,714,563(-) CAGGG(A/T)ATGGA intron-variant
rs1821 -- 227,714,511(-) TTGGA(C/T)CTGAA intron-variant
rs932134 -- 227,703,191(+) ATTCA(C/T)ACTAA intron-variant
rs1012868 -- 227,713,965(-) tgacc(A/G)tagtt intron-variant
rs1055957 -- 227,685,293(-) AAAAA(C/T)TCCCC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SLC19A3 Gene

Variant ID Type Subtype PubMed ID
nsv834561 CNV Gain 17160897
esv2721563 CNV Deletion 23290073
nsv520733 CNV Gain 19592680
nsv10221 CNV Loss 18304495

Relevant External Links for SLC19A3 Gene

HapMap Linkage Disequilibrium report
SLC19A3
Human Gene Mutation Database (HGMD)
SLC19A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC19A3 Gene

Disorders for SLC19A3 Gene

(1) OMIM Diseases for SLC19A3 Gene (606152)

UniProtKB/Swiss-Prot

S19A3_HUMAN
  • Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2) [MIM:607483]: An autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. {ECO:0000269 PubMed:15871139}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC19A3

Genetic Association Database (GAD)
SLC19A3
genes like me logo Genes that share disorders with SLC19A3: view

Publications for SLC19A3 Gene

  1. Identification and characterization of the human and mouse SLC19A3 gene: a novel member of the reduced folate family of micronutrient transporter genes. (PMID: 11136550) Eudy J.D. … Finnell R.H. (Mol. Genet. Metab. 2000) 2 3 4 23
  2. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. (PMID: 15871139) Zeng W.-Q. … Gusella J.F. (Am. J. Hum. Genet. 2005) 2 3 4
  3. Down-regulation of thiamine transporter THTR2 gene expression in breast cancer and its association with resistance to apoptosis. (PMID: 12861052) Liu S. … Moscow J.A. (Mol. Cancer Res. 2003) 3 23
  4. Characterization of the 5'-regulatory region of the human thiamin transporter SLC19A3: in vitro and in vivo studies. (PMID: 15217784) Nabokina S.M. … Said H.M. (Am. J. Physiol. Gastrointest. Liver Physiol. 2004) 3 23
  5. Biotin deficiency reduces expression of SLC19A3, a potential biotin transporter, in leukocytes from human blood. (PMID: 15623830) Vlasova T.I. … Mock D.M. (J. Nutr. 2005) 3 23

Products for SLC19A3 Gene

Sources for SLC19A3 Gene

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