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Aliases for SLC19A3 Gene

Aliases for SLC19A3 Gene

  • Solute Carrier Family 19 Member 3 2 3 4 5
  • Solute Carrier Family 19 (Thiamine Transporter), Member 3 2 3
  • Thiamine Transporter 2 2 3
  • ThTr-2 3 4
  • THTR2 3 4
  • Solute Carrier Family 19, Member 3 2
  • THMD2 3
  • BBGD 3

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 Member 3) is a Protein Coding gene. Diseases associated with SLC19A3 include Thiamine Metabolism Dysfunction Syndrome 2 and Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome. Among its related pathways are Vitamin digestion and absorption and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include 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

Enhancers for SLC19A3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SLC19A3 on UCSC Golden Path with GeneCards custom track

Promoters for SLC19A3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC19A3 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC19A3 Gene

Chromosome:
2
Start:
227,685,210 bp from pter
End:
227,718,029 bp from pter
Size:
32,820 bases
Orientation:
Minus strand

Genomic View for SLC19A3 Gene

Genes around SLC19A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC19A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    Protein attributes for SLC19A3 Gene

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

neXtProt entry for SLC19A3 Gene

Post-translational modifications for SLC19A3 Gene

  • Glycosylation at Asn 45 and Asn 166
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC19A3 Gene

No data available for DME Specific Peptides for SLC19A3 Gene

Domains & Families 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 :
  • Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family.
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:0015234 thiamine transmembrane transporter activity TAS --
GO:0015403 thiamine uptake transmembrane transporter activity IEA,ISS --
genes like me logo Genes that share ontologies with SLC19A3: view
genes like me logo Genes that share phenotypes with SLC19A3: view

Human Phenotype Ontology for SLC19A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC19A3 Gene

MGI Knock Outs for SLC19A3:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC19A3

CRISPR Products

miRNA for SLC19A3 Gene

miRTarBase miRNAs that target SLC19A3

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 5
cytosol 2
nucleus 2
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SLC19A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016021 integral component of membrane NAS 11136550
genes like me logo Genes that share ontologies with SLC19A3: view

Pathways & Interactions for SLC19A3 Gene

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

Pathways by source for SLC19A3 Gene

Interacting Proteins for SLC19A3 Gene

Gene Ontology (GO) - Biological Process for SLC19A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042723 thiamine-containing compound metabolic process TAS --
GO:0071934 thiamine transmembrane transport IBA --
genes like me logo Genes that share ontologies with SLC19A3: view

No data available for SIGNOR curated interactions for SLC19A3 Gene

Drugs & Compounds for SLC19A3 Gene

(3) Drugs for SLC19A3 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Cysteine Approved Nutra Target 0
[<sup>3</sup>H]thiamine Pharma 0
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

Inhibitory RNA Products

Clone Products

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) (x13.6), Adipose - Subcutaneous (x13.5), and Breast - Mammary Tissue (x7.7).

Protein differential expression in normal tissues from HIPED for SLC19A3 Gene

This gene is overexpressed in Liver (24.5), Blymphocyte (17.6), Spleen (6.8), and Gallbladder (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC19A3 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC19A3 Gene:

SLC19A3

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 expression patterns with SLC19A3: view

Primer Products

No data available for Protein tissue co-expression partners for SLC19A3 Gene

Orthologs for SLC19A3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC19A3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC19A3 34
  • 83.26 (n)
  • 81.74 (a)
SLC19A3 35
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC486151 34
  • 85.25 (n)
  • 82.42 (a)
SLC19A3 35
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc19a3 34
  • 75.36 (n)
  • 69.98 (a)
Slc19a3 16
Slc19a3 35
  • 69 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC19A3 34
  • 99.26 (n)
  • 98.59 (a)
SLC19A3 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc19a3 34
  • 73.83 (n)
  • 68.68 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 63 (a)
OneToMany
-- 35
  • 65 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SLC19A3 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC19A3 34
  • 64.55 (n)
  • 62.37 (a)
-- 35
  • 62 (a)
OneToMany
-- 35
  • 61 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia SLC19A3 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8267 34
African clawed frog
(Xenopus laevis)
Amphibia MGC52872 34
zebrafish
(Danio rerio)
Actinopterygii LOC557854 34
  • 55.23 (n)
  • 48.02 (a)
slc19a3a 35
  • 43 (a)
OneToMany
slc19a3b 35
  • 45 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG14694 36
  • 32 (a)
CG17036 36
  • 36 (a)
CG6574 36
  • 33 (a)
CG6574 34
  • 49.31 (n)
  • 36.87 (a)
CG14694 35
  • 32 (a)
ManyToMany
CG17036 35
  • 37 (a)
ManyToMany
CG6574 35
  • 34 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012955 34
  • 47.32 (n)
  • 37.61 (a)
worm
(Caenorhabditis elegans)
Secernentea C06H2.4 36
  • 31 (a)
F37B4.7 36
  • 32 (a)
folt-1 35
  • 35 (a)
ManyToMany
folt-2 35
  • 33 (a)
ManyToMany
folt-3 35
  • 33 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToMany
Species where no ortholog for SLC19A3 was found in the sources mined by GeneCards:
  • 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

(2) 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
rs121917882 Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2) 227,702,251(-) ATTTG(A/G/T)TTTTT reference, missense, utr-variant-5-prime
rs121917884 Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2) 227,688,216(-) TCATG(A/G)CTGTG reference, missense
rs34507036 - 227,696,012(+) AGACC(A/G)CCAGA reference, missense
rs59736804 - 227,699,195(+) TATGA(A/C/T)GTTGA reference, missense
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
dgv7321n54 CNV gain 21841781
dgv7322n54 CNV gain 21841781
esv2721563 CNV deletion 23290073
nsv1000263 CNV gain 25217958
nsv1009159 CNV loss 25217958
nsv10221 CNV loss 18304495
nsv520733 CNV gain 19592680
nsv834561 CNV gain 17160897

Variation tolerance for SLC19A3 Gene

Residual Variation Intolerance Score: 81.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.60; 56.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC19A3 Gene

Human Gene Mutation Database (HGMD)
SLC19A3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC19A3

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

Disorders for SLC19A3 Gene

MalaCards: The human disease database

(11) MalaCards diseases for SLC19A3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
thiamine metabolism dysfunction syndrome 2
  • biotin-responsive basal ganglia disease
infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
basal ganglia disease
  • basal ganglia disorders
biotin-thiamine-responsive basal ganglia disease
  • btbgd
- elite association - COSMIC cancer census association via MalaCards

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC19A3
genes like me logo Genes that share disorders with SLC19A3: view

No data available for Genatlas for SLC19A3 Gene

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 22 65
  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 65
  3. 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 22 65
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 65
  5. Differentiation-dependent up-regulation of intestinal thiamin uptake: cellular and molecular mechanisms. (PMID: 16055442) Nabokina S.M. … Said H.M. (J. Biol. Chem. 2005) 3 22 65

Products for SLC19A3 Gene

Sources for SLC19A3 Gene

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