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Aliases for SLC19A2 Gene

Aliases for SLC19A2 Gene

  • Solute Carrier Family 19 Member 2 2 3 4 5
  • Solute Carrier Family 19 (Thiamine Transporter), Member 2 2 3
  • ThTr-1 3 4
  • THTR1 3 4
  • TRMA 3 4
  • 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
  • THMD1 3

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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

GeneCards Summary for SLC19A2 Gene

SLC19A2 (Solute Carrier Family 19 Member 2) is a Protein Coding gene. Diseases associated with SLC19A2 include Thiamine-Responsive Megaloblastic Anemia Syndrome and Megaloblastic Anemia-1, Finnish Type. Among its related pathways are Vitamin digestion and absorption and Metabolism. GO annotations related to this gene include folic acid transporter activity and thiamine transmembrane transporter 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

Enhancers for SLC19A2 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
GH01F169511 0.9 Ensembl ENCODE 18.7 -25.7 -25663 1.3 TBP JUN CEBPB EP300 RFX5 YY1 JUND ATF3 STAT3 CUX1 SLC19A2 ENSG00000213062 CCDC181 NME7 GC01P169489 GC01P169565
GH01F169526 0.8 Ensembl ENCODE 18.2 -42.7 -42693 3.7 HDAC1 PKNOX1 JUN TEAD4 RAD21 ZFHX2 GATA3 CTBP1 RCOR1 ZSCAN29 SLC19A2 ENSG00000213062 NME7 F5 GC01P169489 GC01P169565
GH01F169509 0.2 ENCODE 12.4 -23.5 -23479 0.2 CTCF SAP130 ZNF580 FEZF1 NR2F6 RAD21 TCF7L2 MIXL1 ENSG00000213062 SLC19A2 GC01P169489 GC01P169565
GH01F169513 0.7 Ensembl 12 -27.4 -27422 0.2 GATA3 IKZF1 CEBPB CEBPG ZNF2 EP300 SPI1 ENSG00000213062 SLC19A2 CCDC181 GC01P169489 GC01P169565
GH01F169539 0.8 ENCODE 12 -53.1 -53139 0.2 HDAC1 PKNOX1 CBX3 TBL1XR1 ARNT RAD21 RFX5 RCOR1 FOS CEBPB SLC19A2 ENSG00000213062 GC01P169565 GC01P169489
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SLC19A2 on UCSC Golden Path with GeneCards custom track

Promoters for SLC19A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000547321 979 3801 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for SLC19A2 Gene

Chromosome:
1
Start:
169,463,909 bp from pter
End:
169,486,079 bp from pter
Size:
22,171 bases
Orientation:
Minus strand

Genomic View for SLC19A2 Gene

Genes around SLC19A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC19A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for SLC19A2 Gene

  • Glycosylation at Asn 63 and Asn 314
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC19A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for SLC19A2
  • Santa Cruz Biotechnology (SCBT) Antibodies for SLC19A2

No data available for DME Specific Peptides for SLC19A2 Gene

Domains & Families 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 :
  • 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 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

Human Phenotype Ontology for SLC19A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC19A2 Gene

MGI Knock Outs for SLC19A2:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 5
cytosol 3
golgi apparatus 2
nucleus 2
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SLC19A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA,TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 10542220
genes like me logo Genes that share ontologies with SLC19A2: view

Pathways & Interactions for SLC19A2 Gene

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

Pathways by source for SLC19A2 Gene

Interacting Proteins for SLC19A2 Gene

Gene Ontology (GO) - Biological Process for SLC19A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015884 folic acid transport IEA --
GO:0015888 thiamine transport NAS 10542220
GO:0042723 thiamine-containing compound metabolic process TAS --
GO:0071934 thiamine transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC19A2: view

No data available for SIGNOR curated interactions for SLC19A2 Gene

Drugs & Compounds for SLC19A2 Gene

(6) Drugs for SLC19A2 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Thiamine Approved, Vet_approved Nutra Target, binder 98,98
Folic Acid Approved, Vet_approved Nutra 4279
[<sup>3</sup>H]thiamine Pharma 0
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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 (x10.2).

Protein differential expression in normal tissues from HIPED for SLC19A2 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC19A2 Gene



Protein tissue co-expression partners for SLC19A2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC19A2 Gene:

SLC19A2

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 expression patterns with SLC19A2: view

Primer Products

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 34 35
  • 99.73 (n)
cow
(Bos Taurus)
Mammalia SLC19A2 34 35
  • 90.59 (n)
dog
(Canis familiaris)
Mammalia SLC19A2 34 35
  • 89.34 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC19A2 35
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc19a2 34
  • 86.12 (n)
mouse
(Mus musculus)
Mammalia Slc19a2 34 16 35
  • 85.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC19A2 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC19A2 34 35
  • 71.49 (n)
lizard
(Anolis carolinensis)
Reptilia SLC19A2 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489793 34
  • 65.87 (n)
zebrafish
(Danio rerio)
Actinopterygii slc19a2 34 35
  • 64.01 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17036 36 34 35
  • 49.52 (n)
CG14694 36 35
  • 35 (a)
CG6574 36 35
  • 35 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006349 34
  • 46.11 (n)
worm
(Caenorhabditis elegans)
Secernentea folt-1 34 35
  • 48.33 (n)
folt-3 35
  • 35 (a)
ManyToMany
folt-2 35
  • 34 (a)
ManyToMany
C06H2.4 36
  • 33 (a)
F37B4.7 36
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToMany
Species where no ortholog for SLC19A2 was found in the sources mined by GeneCards:
  • 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

(2) 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
rs28937595 Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270], Pathogenic 169,477,447(-) AGTGG(A/G)CTCTG intron-variant, reference, missense
rs761957186 Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270] 169,477,534(+) TATAA(A/G)AGTAA intron-variant, reference, missense
VAR_010249 Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]
rs121908540 Pathogenic 169,485,615(-) CGAGC(C/T)CTTCC reference, missense
rs74315373 Pathogenic 169,477,478(-) ACTGT(C/T)GAAGT intron-variant, reference, stop-gained

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

Variant ID Type Subtype PubMed ID
esv22143 CNV gain+loss 19812545
esv2719384 CNV deletion 23290073
esv3303796 CNV mobile element insertion 20981092
esv3425146 CNV insertion 20981092
nsv1001454 CNV gain 25217958
nsv1005941 CNV loss 25217958
nsv1078878 OTHER inversion 25765185
nsv831871 CNV loss 17160897

Variation tolerance for SLC19A2 Gene

Residual Variation Intolerance Score: 46.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.88; 48.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC19A2 Gene

Human Gene Mutation Database (HGMD)
SLC19A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC19A2

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

Disorders for SLC19A2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for SLC19A2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thiamine-responsive megaloblastic anemia syndrome
  • rogers syndrome
megaloblastic anemia-1, finnish type
  • megaloblastic anemia-1, norwegian type
wernicke-korsakoff syndrome
  • korsakoff syndrome
thiamine metabolism dysfunction syndrome 2
  • biotin-responsive basal ganglia disease
ebstein anomaly
  • ebstein's anomaly
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for SLC19A2

Genetic Association Database (GAD)
SLC19A2
Human Genome Epidemiology (HuGE) Navigator
SLC19A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC19A2
genes like me logo Genes that share disorders with SLC19A2: view

No data available for Genatlas for SLC19A2 Gene

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 22 64
  2. 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 22 46 64
  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 22 64
  4. 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 22 64
  5. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. (PMID: 19731322) Bergmann A.K. … Neufeld E.J. (Pediatr Blood Cancer 2010) 3 22 64

Products for SLC19A2 Gene

Sources for SLC19A2 Gene

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