Human Gene SLC19A2 (ENST00000236137.10) from GENCODE V44
  Description: Homo sapiens solute carrier family 19 member 2 (SLC19A2), transcript variant 1, mRNA. (from RefSeq NM_006996)
RefSeq Summary (NM_006996): 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].
Gencode Transcript: ENST00000236137.10
Gencode Gene: ENSG00000117479.15
Transcript (Including UTRs)
   Position: hg38 chr1:169,463,909-169,485,944 Size: 22,036 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr1:169,465,849-169,485,766 Size: 19,918 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:169,463,909-169,485,944)mRNA (may differ from genome)Protein (497 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGencode
GeneCardsHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: S19A2_HUMAN
DESCRIPTION: RecName: Full=Thiamine transporter 1; Short=ThTr-1; Short=ThTr1; AltName: Full=Solute carrier family 19 member 2; AltName: Full=Thiamine carrier 1; Short=TC1;
FUNCTION: High-affinity transporter for the intake of thiamine.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung.
DISEASE: Defects in SLC19A2 are the cause of thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]; also known as Rogers syndrome. TRMA is an autosomal recessive disease with features that include megaloblastic anemia, mild thrombocytopenia and leucopenia, sensorineural deafness and diabetes mellitus.
SIMILARITY: Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family.
SEQUENCE CAUTION: Sequence=BAG64936.1; Type=Erroneous initiation;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC19A2";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SLC19A2
Diseases sorted by gene-association score: thiamine-responsive megaloblastic anemia syndrome* (1705), megaloblastic anemia (50), wernicke-korsakoff syndrome (17), thiamine metabolism dysfunction syndrome 2 (12), ebstein anomaly (10), autosomal recessive disease (8), beriberi (7), monogenic diabetes (5), diabetes mellitus, permanent neonatal (5), inner ear disease (4), diabetes mellitus, insulin-dependent (2), leber congenital amaurosis (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 45.93 RPKM in Muscle - Skeletal
Total median expression: 434.06 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -79.80178-0.448 Picture PostScript Text
3' UTR -449.201940-0.232 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002666 - Folate_carrier
IPR016196 - MFS_dom_general_subst_transpt

Pfam Domains:
PF01770 - Reduced folate carrier

ModBase Predicted Comparative 3D Structure on O60779
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein SequenceProtein Sequence Protein Sequence 
AlignmentAlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008517 folic acid transporter activity
GO:0015234 thiamine transmembrane transporter activity
GO:0090482 vitamin transmembrane transporter activity

Biological Process:
GO:0015884 folic acid transport
GO:0015888 thiamine transport
GO:0042723 thiamine-containing compound metabolic process
GO:0051180 vitamin transport
GO:0071934 thiamine transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AJ237724 - Homo sapiens mRNA for thiamine transporter (THTR-1), partial.
AF160812 - Homo sapiens thiamine transporter 1 (THT1) mRNA, complete cds.
AF153330 - Homo sapiens thiamine carrier 1 (TC1) mRNA, complete cds.
AF135488 - Homo sapiens high affinity thiamine transporter mRNA, complete cds.
BC018514 - Homo sapiens solute carrier family 19 (thiamine transporter), member 2, mRNA (cDNA clone MGC:17044 IMAGE:3872233), complete cds.
AK316465 - Homo sapiens cDNA, FLJ79364 complete cds, highly similar to Thiamine transporter 1.
AK304021 - Homo sapiens cDNA FLJ52425 complete cds, highly similar to Thiamine transporter 1.
AF272359 - Homo sapiens thiamine transporter 1 mRNA, complete cds.
AK313779 - Homo sapiens cDNA, FLJ94386, Homo sapiens solute carrier family 19 (thiamine transporter),member 2 (SLC19A2), mRNA.
KJ902129 - Synthetic construct Homo sapiens clone ccsbBroadEn_11523 SLC19A2 gene, encodes complete protein.
KR709708 - Synthetic construct Homo sapiens clone CCSBHm_00005309 SLC19A2 (SLC19A2) mRNA, encodes complete protein.
KU178534 - Homo sapiens solute carrier family 19 member 2 isoform 1 (SLC19A2) mRNA, partial cds, alternatively spliced.
KU178535 - Homo sapiens solute carrier family 19 member 2 isoform 2 (SLC19A2) mRNA, partial cds.
AB209540 - Homo sapiens mRNA for solute carrier family 19, member 2 variant protein.
JD046944 - Sequence 27968 from Patent EP1572962.
JD504336 - Sequence 485360 from Patent EP1572962.
JD236236 - Sequence 217260 from Patent EP1572962.
JD245200 - Sequence 226224 from Patent EP1572962.
JD469319 - Sequence 450343 from Patent EP1572962.
JD145956 - Sequence 126980 from Patent EP1572962.
JD061661 - Sequence 42685 from Patent EP1572962.
JD244370 - Sequence 225394 from Patent EP1572962.
JD206536 - Sequence 187560 from Patent EP1572962.
JD284655 - Sequence 265679 from Patent EP1572962.
JD068559 - Sequence 49583 from Patent EP1572962.
JD269190 - Sequence 250214 from Patent EP1572962.
JD047037 - Sequence 28061 from Patent EP1572962.
JD286131 - Sequence 267155 from Patent EP1572962.
JD504029 - Sequence 485053 from Patent EP1572962.
JD279126 - Sequence 260150 from Patent EP1572962.
JD324048 - Sequence 305072 from Patent EP1572962.
JD310601 - Sequence 291625 from Patent EP1572962.
DQ600545 - Homo sapiens piRNA piR-38611, complete sequence.
JD462281 - Sequence 443305 from Patent EP1572962.
JD348630 - Sequence 329654 from Patent EP1572962.
JD385458 - Sequence 366482 from Patent EP1572962.
JD544457 - Sequence 525481 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O60779 (Reactome details) participates in the following event(s):

R-HSA-199626 SLC19A2/3 transport extracellular THMN to cytosol
R-HSA-196819 Vitamin B1 (thiamin) metabolism
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2R9H0, B4E1X4, ENST00000236137.1, ENST00000236137.2, ENST00000236137.3, ENST00000236137.4, ENST00000236137.5, ENST00000236137.6, ENST00000236137.7, ENST00000236137.8, ENST00000236137.9, NM_006996, O60779, Q8WV87, Q9UBL7, Q9UKJ2, Q9UN31, Q9UN43, S19A2_HUMAN, THT1, TRMA, uc001gge.1, uc001gge.2, uc001gge.3, uc001gge.4, uc001gge.5, uc001gge.6
UCSC ID: ENST00000236137.10
RefSeq Accession: NM_006996
Protein: O60779 (aka S19A2_HUMAN)
CCDS: CCDS1280.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SLC19A2:
trma (Thiamine-Responsive Megaloblastic Anemia Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.