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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
  • 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
  • THTR1 3
  • ThTr1 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. 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. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include folic acid transmembrane 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

Additional gene information for SLC19A2 Gene

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

Genomics for SLC19A2 Gene

GeneHancer (GH) Regulatory Elements for SLC19A2 Gene

Promoters and enhancers for SLC19A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J169482 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.5 508 5.7 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 ZNF143 SP3 NFYC MEF2D ENSG00000213062 SLC19A2 GC01P169486 SCYL3 METTL18 RN7SL333P NME7 C1orf112 CCDC181 PIR61656
GH01J169526 Enhancer 1 Ensembl ENCODE 18.3 -42.7 -42692 3.7 HDAC1 PKNOX1 NFIB NEUROD1 BATF ZNF213 FOS ATF7 RCOR1 EGR2 SLC19A2 ENSG00000213062 NME7 F5 GC01P169565 GC01P169489
GH01J169511 Enhancer 0.8 Ensembl ENCODE 18.7 -25.7 -25662 1.3 JUN CEBPB EP300 RFX5 YY1 FOSL1 JUND STAT3 FOS CUX1 SLC19A2 ENSG00000213062 CCDC181 NME7 GC01P169489 GC01P169565 F5
GH01J169546 Enhancer 0.7 ENCODE 12 -60.4 -60369 0 CTCF MAX ZNF2 RAD21 RFX5 YY1 CC2D1A GATA3 ARID2 SCRT2 SLC19A2 ENSG00000213062 F5 CCDC181 SELE GC01P169565 GC01P169489
GH01J169547 Enhancer 0.7 ENCODE 12 -60.5 -60489 0.2 CTCF ZNF2 RAD21 RFX5 YY1 CC2D1A GATA3 ARID2 SCRT2 ZNF143 SLC19A2 ENSG00000213062 F5 CCDC181 SELE GC01P169565 GC01P169489
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC19A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC19A2 gene promoter:
  • STAT5B
  • LCR-F1
  • AML1a
  • Nkx5-1
  • PPAR-alpha
  • Pax-3
  • HOXA9
  • HOXA9B
  • Meis-1

Genomic Locations for SLC19A2 Gene

Genomic Locations for SLC19A2 Gene
chr1:169,463,909-169,486,079
(GRCh38/hg38)
Size:
22,171 bases
Orientation:
Minus strand
chr1:169,433,147-169,455,241
(GRCh37/hg19)
Size:
22,095 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 posLast=314314 and isoforms=263
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC19A2 Gene

No data available for DME Specific Peptides for SLC19A2 Gene

Domains & Families for SLC19A2 Gene

Gene Families for SLC19A2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

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

UniProtKB/Swiss-Prot Function:
High-affinity transporter for the intake of thiamine.
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

Phenotypes From GWAS Catalog for SLC19A2 Gene

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 transmembrane transporter activity NAS 10542220
GO:0015234 thiamine transmembrane transporter activity TAS 10542220
GO:0022857 transmembrane transporter activity IBA --
GO:0090482 vitamin transmembrane transporter activity IEA --
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

Clone 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

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC19A2 gene
Compartment Confidence
plasma membrane 5
cytosol 3
nucleus 2
golgi apparatus 2
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC19A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,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:0015884 folic acid transport IEA --
GO:0015888 thiamine transport NAS 10542220
GO:0035461 vitamin transmembrane transport IEA --
GO:0042723 thiamine-containing compound metabolic process TAS --
GO:0051180 vitamin 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, Investigational, Vet_approved Nutra Target, binder 116,116
Folic Acid Approved, Vet_approved Nutra 4610
[<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

(2) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(109) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC19A2 Gene

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

Clone 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 CGAP 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, 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.

Evidence on tissue expression from TISSUES for SLC19A2 Gene

  • Intestine(4.4)
  • Muscle(4.4)
  • Nervous system(4.3)
  • Eye(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC19A2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • larynx
  • neck
  • vocal cord
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • kidney
  • pancreas
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns 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 34 33
  • 99.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC19A2 34 33
  • 90.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC19A2 34 33
  • 89.34 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC19A2 34
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc19a2 33
  • 86.12 (n)
mouse
(Mus musculus)
Mammalia Slc19a2 16 34 33
  • 85.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC19A2 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC19A2 34 33
  • 71.49 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC19A2 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489793 33
  • 65.87 (n)
zebrafish
(Danio rerio)
Actinopterygii slc19a2 34 33
  • 64.01 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG17036 34 35 33
  • 49.52 (n)
ManyToMany
CG6574 34 35
  • 36 (a)
ManyToMany
CG14694 34 35
  • 33 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006349 33
  • 46.11 (n)
worm
(Caenorhabditis elegans)
Secernentea folt-1 34 33
  • 48.33 (n)
ManyToMany
folt-3 34
  • 35 (a)
ManyToMany
folt-2 34
  • 34 (a)
ManyToMany
F37B4.7 35
  • 33 (a)
C06H2.4 35
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC19A2: view image

Paralogs for SLC19A2 Gene

Paralogs for SLC19A2 Gene

(2) SIMAP similar genes for SLC19A2 Gene using alignment to 5 proteins:

  • S19A2_HUMAN
  • B0FBR7_HUMAN
  • E3UTN9_HUMAN
  • I7BB09_HUMAN
  • Q7Z7J1_HUMAN
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 Variation AA Info Type
rs1042100598 uncertain-significance, Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness, Thiamine-responsive megaloblastic anemia 169,485,929(-) C/A 5_prime_UTR_variant
rs12091844 likely-benign, Thiamine-responsive megaloblastic anemia, Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 169,464,035(-) C/T 3_prime_UTR_variant
rs121908540 pathogenic, Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 169,485,615(-) G/A coding_sequence_variant, missense_variant
rs137970656 uncertain-significance, likely-benign, Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness, Thiamine-responsive megaloblastic anemia, not specified 169,477,323(-) C/T coding_sequence_variant, intron_variant, synonymous_variant
rs145285893 uncertain-significance, Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness, Thiamine-responsive megaloblastic anemia 169,485,880(-) G/A 5_prime_UTR_variant

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)

Additional Variant Information 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

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

- 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.

Additional Disease Information for SLC19A2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Nature genetics 1999) 2 3 4 22 58
  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 (Molecular genetics and metabolism 2001) 3 22 44 58
  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 (Human mutation 2000) 3 4 22 58
  4. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. (PMID: 10391223) Diaz GA … Gelb BD (Nature genetics 1999) 3 4 22 58
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for SLC19A2 Gene

Sources for SLC19A2 Gene

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