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Aliases for SLC19A2 Gene

Aliases for SLC19A2 Gene

  • Solute Carrier Family 19 (Thiamine Transporter), Member 2 2 3
  • THTR1 3 4 6
  • TRMA 3 4 6
  • Solute Carrier Family 19 Member 2 3 4
  • ThTr-1 3 4
  • THMD1 3 6
  • THT1 3 4
  • TC1 3 4
  • Reduced Folate Carrier Protein (RFC) Like 3
  • High Affinity Thiamine Transporter 3
  • Thiamine Transporter 1 3
  • Thiamine Carrier 1 4

External Ids for SLC19A2 Gene

Previous HGNC Symbols for SLC19A2 Gene

  • TRMA

Previous GeneCards Identifiers for SLC19A2 Gene

  • GC01M167061
  • GC01M165083
  • GC01M166128
  • GC01M166619
  • GC01M166164
  • GC01M167699
  • GC01M140656

Summaries for SLC19A2 Gene

Entrez Gene Summary for SLC19A2 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC19A2 Gene

SLC19A2 (Solute Carrier Family 19 (Thiamine Transporter), Member 2) is a Protein Coding gene. Diseases associated with SLC19A2 include thiamine-responsive megaloblastic anemia syndrome and monogenic diabetes. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include folic acid binding and reduced folate carrier activity. An important paralog of this gene is SLC19A3.

UniProtKB/Swiss-Prot for SLC19A2 Gene

  • High-affinity transporter for the intake of thiamine

Gene Wiki entry for SLC19A2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC19A2 Gene

Genomics for SLC19A2 Gene

Regulatory Elements for SLC19A2 Gene

Genomic Location for SLC19A2 Gene

Start:
169,463,909 bp from pter
End:
169,486,003 bp from pter
Size:
22,095 bases
Orientation:
Minus strand

Genomic View for SLC19A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC19A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC19A2 Gene

Proteins for SLC19A2 Gene

  • Protein details for SLC19A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60779-S19A2_HUMAN
    Recommended name:
    Thiamine transporter 1
    Protein Accession:
    O60779
    Secondary Accessions:
    • B2R9H0
    • B4E1X4
    • Q8WV87
    • Q9UBL7
    • Q9UKJ2
    • Q9UN31
    • Q9UN43

    Protein attributes for SLC19A2 Gene

    Size:
    497 amino acids
    Molecular mass:
    55400 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAG64936.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC19A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC19A2 Gene

Proteomics data for SLC19A2 Gene at MOPED

Post-translational modifications for SLC19A2 Gene

  • Glycosylation at Asn63 and Asn314
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC19A2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC19A2 Gene

Domains for SLC19A2 Gene

Gene Families for SLC19A2 Gene

Protein Domains for SLC19A2 Gene

Graphical View of Domain Structure for InterPro Entry

O60779

UniProtKB/Swiss-Prot:

S19A2_HUMAN :
  • O60779
Family:
  • Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family.
genes like me logo Genes that share domains with SLC19A2: view

Function for SLC19A2 Gene

Molecular function for SLC19A2 Gene

GENATLAS Biochemistry: solute carrier family 19, member A2,thiamine transporter,widely expressed,predominantly expressed in skeletal and cardiac muscle,homolog to C elegans CF37B4.7,member of folate transporter family
UniProtKB/Swiss-Prot Function: High-affinity transporter for the intake of thiamine

Gene Ontology (GO) - Molecular Function for SLC19A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21836059
GO:0008517 folic acid transporter activity NAS 10542220
GO:0015234 thiamine transmembrane transporter activity TAS 10542220
GO:0015403 thiamine uptake transmembrane transporter activity ISS --
genes like me logo Genes that share ontologies with SLC19A2: view
genes like me logo Genes that share phenotypes with SLC19A2: view

Animal Models for SLC19A2 Gene

MGI Knock Outs for SLC19A2:

miRNA for SLC19A2 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SLC19A2 Gene

Localization for SLC19A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC19A2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC19A2 Gene COMPARTMENTS Subcellular localization image for SLC19A2 gene
Compartment Confidence
plasma membrane 4
cytosol 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SLC19A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane --
GO:0016021 integral component of membrane NAS 10542220
genes like me logo Genes that share ontologies with SLC19A2: view

Pathways for SLC19A2 Gene

SuperPathways for SLC19A2 Gene

genes like me logo Genes that share pathways with SLC19A2: view

Interacting Proteins for SLC19A2 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000236137%0d%0a9606.ENSP00000353165%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000385269%0d%0a9606.ENSP00000271688%0d%0a
Selected Interacting proteins: ENSP00000236137 for SLC19A2 Gene via STRING

Gene Ontology (GO) - Biological Process for SLC19A2 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:0015884 folic acid transport NAS 10542220
GO:0015888 thiamine transport NAS 10542220
genes like me logo Genes that share ontologies with SLC19A2: view

Compounds for SLC19A2 Gene

(2) HMDB Compounds for SLC19A2 Gene

Compound Synonyms Cas Number PubMed IDs
Folic acid
  • Acifolic
59-30-3
Thiamine
  • Aneurin
59-43-8

(1) Drugbank Compounds for SLC19A2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Thiamine
  • Thiadoxine
59-43-8 target binder

(1) IUPHAR Ligand for SLC19A2 Gene

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

(4) Novoseek inferred chemical compound relationships for SLC19A2 Gene

Compound -log(P) Hits PubMed IDs
thiamine 93 72
folate 52.3 6
methotrexate 31.6 1
glucose 0 1
genes like me logo Genes that share compounds with SLC19A2: view

Transcripts for SLC19A2 Gene

mRNA/cDNA for SLC19A2 Gene

Unigene Clusters for SLC19A2 Gene

Solute carrier family 19 (thiamine transporter), member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC19A2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1:
SP2: -

Relevant External Links for SLC19A2 Gene

GeneLoc Exon Structure for
SLC19A2
ECgene alternative splicing isoforms for
SLC19A2

Expression for SLC19A2 Gene

mRNA expression in normal human tissues for SLC19A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC19A2 Gene

This gene is overexpressed in Muscle - Skeletal (10.2).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for SLC19A2 Gene

SOURCE GeneReport for Unigene cluster for SLC19A2 Gene Hs.30246

mRNA Expression by UniProt/SwissProt for SLC19A2 Gene

O60779-S19A2_HUMAN
Tissue specificity: Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung
genes like me logo Genes that share expressions with SLC19A2: view

Orthologs for SLC19A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC19A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC19A2 35
  • 99.73 (n)
  • 100 (a)
SLC19A2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC19A2 35
  • 90.59 (n)
  • 92.94 (a)
SLC19A2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC19A2 35
  • 89.34 (n)
  • 92.76 (a)
SLC19A2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc19a2 35
  • 85.24 (n)
  • 89.74 (a)
Slc19a2 16
Slc19a2 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC19A2 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC19A2 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc19a2 35
  • 86.12 (n)
  • 89.94 (a)
chicken
(Gallus gallus)
Aves SLC19A2 35
  • 71.49 (n)
  • 76.67 (a)
SLC19A2 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC19A2 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489793 35
  • 65.87 (n)
  • 71.12 (a)
zebrafish
(Danio rerio)
Actinopterygii slc19a2 35
  • 64.01 (n)
  • 62.41 (a)
slc19a2 36
  • 59 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006349 35
  • 46.11 (n)
  • 33.33 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG14694 36
  • 33 (a)
ManyToMany
CG17036 35
  • 49.52 (n)
  • 38.22 (a)
CG17036 36
  • 35 (a)
ManyToMany
CG6574 36
  • 36 (a)
ManyToMany
CG6574 37
  • 35 (a)
CG14694 37
  • 35 (a)
CG17036 37
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea folt-1 35
  • 48.33 (n)
  • 39.77 (a)
folt-1 36
  • 38 (a)
ManyToMany
folt-2 36
  • 34 (a)
ManyToMany
folt-3 36
  • 35 (a)
ManyToMany
F37B4.7 37
  • 33 (a)
C06H2.4 37
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToMany
Species with no ortholog for SLC19A2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 SLC19A2 Gene

ENSEMBL:
Gene Tree for SLC19A2 (if available)
TreeFam:
Gene Tree for SLC19A2 (if available)

Paralogs for SLC19A2 Gene

Paralogs for SLC19A2 Gene

Selected SIMAP similar genes for SLC19A2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SLC19A2: view

Variants for SLC19A2 Gene

Sequence variations from dbSNP and Humsavar for SLC19A2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1883167 -- 169,467,592(-) AATAC(C/T)TTTTA intron-variant
rs1983546 -- 169,476,945(-) TGGAG(C/T)GCGTG intron-variant
rs2038024 -- 169,486,744(-) CTTTT(G/T)TGTTT upstream-variant-2KB
rs2056926 -- 169,486,197(-) CGCCT(C/G)ACTAG upstream-variant-2KB
rs2056927 -- 169,478,555(-) tctct(A/C)ccaaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC19A2 Gene

Variant ID Type Subtype PubMed ID
esv22143 CNV Gain+Loss 19812545
nsv831871 CNV Loss 17160897
esv268075 CNV Insertion 20981092
esv2719384 CNV Deletion 23290073

Relevant External Links for SLC19A2 Gene

HapMap Linkage Disequilibrium report
SLC19A2
Human Gene Mutation Database (HGMD)
SLC19A2
Locus Specific Mutation Databases (LSDB)
SLC19A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC19A2 Gene

Disorders for SLC19A2 Gene

(1) OMIM Diseases for SLC19A2 Gene (603941)

UniProtKB/Swiss-Prot

S19A2_HUMAN
  • Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]: An autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke. {ECO:0000269 PubMed:10391221, ECO:0000269 PubMed:10874303}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(6) Novoseek inferred disease relationships for SLC19A2 Gene

Disease -log(P) Hits PubMed IDs
thiamine-responsive megaloblastic anemia syndrome 98.7 7
anemia megaloblastic 95.4 10
deafness sensorineural 87.4 3
diabetes mellitus 60 7
anemia 37.2 3

Relevant External Links for SLC19A2

GeneTests
SLC19A2
GeneReviews
SLC19A2
Genetic Association Database (GAD)
SLC19A2
Human Genome Epidemiology (HuGE) Navigator
SLC19A2
genes like me logo Genes that share disorders with SLC19A2: view

Publications for SLC19A2 Gene

  1. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. (PMID: 10391221) Labay V. … Cohen N. (Nat. Genet. 1999) 2 3 4 23 25
  2. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. (PMID: 10391223) Diaz G.A. … Gelb B.D. (Nat. Genet. 1999) 3 4 23 25
  3. The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families. (PMID: 10874303) Raz T. … Cohen N. (Hum. Mutat. 2000) 3 4 23
  4. Analysis of slc19a2, on 1q23.3 encoding a thiamine transporter as a candidate gene for type 2 diabetes mellitus in pima indians. (PMID: 11286512) Thameem F. … Prochazka M. (Mol. Genet. Metab. 2001) 3 23 48
  5. The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. (PMID: 10391222) Fleming J.C. … Neufeld E.J. (Nat. Genet. 1999) 3 4 25

Products for SLC19A2 Gene

Sources for SLC19A2 Gene

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