Atlas of Genetics and Cytogenetics in Oncology and Haematology

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SLC19A2 (solute carrier family 19 member 2)

Identity

Alias_namesTRMA
solute carrier family 19 (thiamine transporter), member 2
Alias_symbol (synonym)THTR1
Other aliasTC1
THMD1
THT1
HGNC (Hugo) SLC19A2
LocusID (NCBI) 10560
Atlas_Id 53830
Location 1q24.2  [Link to chromosome band 1q24]
Location_base_pair Starts at 169463911 and ends at 169485970 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
SLC19A2 (1q24.2) / DCAF6 (1q24.2)SLC19A2 (1q24.2) / EIF2S3 (Xp22.11)SLC19A2 (1q24.2) / THAP7-AS1 (22q11.21)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)SLC19A2   10938
Cards
Entrez_Gene (NCBI)SLC19A2  10560  solute carrier family 19 member 2
AliasesTC1; THMD1; THT1; THTR1; 
TRMA
GeneCards (Weizmann)SLC19A2
Ensembl hg19 (Hinxton)ENSG00000117479 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117479 [Gene_View]  ENSG00000117479 [Sequence]  chr1:169463911-169485970 [Contig_View]  SLC19A2 [Vega]
ICGC DataPortalENSG00000117479
TCGA cBioPortalSLC19A2
AceView (NCBI)SLC19A2
Genatlas (Paris)SLC19A2
WikiGenes10560
SOURCE (Princeton)SLC19A2
Genetics Home Reference (NIH)SLC19A2
Genomic and cartography
GoldenPath hg38 (UCSC)SLC19A2  -     chr1:169463911-169485970 -  1q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC19A2  -     1q24.2   [Description]    (hg19-Feb_2009)
GoldenPathSLC19A2 - 1q24.2 [CytoView hg19]  SLC19A2 - 1q24.2 [CytoView hg38]
ImmunoBaseENSG00000117479
Mapping of homologs : NCBISLC19A2 [Mapview hg19]  SLC19A2 [Mapview hg38]
OMIM249270   603941   
Gene and transcription
Genbank (Entrez)AB209540 AF135488 AF153330 AF160812 AF272359
RefSeq transcript (Entrez)NM_001319667 NM_006996
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC19A2
Cluster EST : UnigeneHs.30246 [ NCBI ]
CGAP (NCI)Hs.30246
Alternative Splicing GalleryENSG00000117479
Gene ExpressionSLC19A2 [ NCBI-GEO ]   SLC19A2 [ EBI - ARRAY_EXPRESS ]   SLC19A2 [ SEEK ]   SLC19A2 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC19A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10560
GTEX Portal (Tissue expression)SLC19A2
Human Protein AtlasENSG00000117479-SLC19A2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60779   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60779  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60779
Splice isoforms : SwissVarO60779
PhosPhoSitePlusO60779
Domains : Interpro (EBI)Folate_carrier    MFS_trans_sf    ThTr-1   
Domain families : Pfam (Sanger)Folate_carrier (PF01770)   
Domain families : Pfam (NCBI)pfam01770   
Conserved Domain (NCBI)SLC19A2
DMDM Disease mutations10560
Blocks (Seattle)SLC19A2
SuperfamilyO60779
Human Protein Atlas [tissue]ENSG00000117479-SLC19A2 [tissue]
Peptide AtlasO60779
HPRD04897
IPIIPI00031631   IPI00103058   IPI00556087   IPI00514748   
Protein Interaction databases
DIP (DOE-UCLA)O60779
IntAct (EBI)O60779
FunCoupENSG00000117479
BioGRIDSLC19A2
STRING (EMBL)SLC19A2
ZODIACSLC19A2
Ontologies - Pathways
QuickGOO60779
Ontology : AmiGOprotein binding  plasma membrane  plasma membrane  plasma membrane  folic acid transmembrane transporter activity  thiamine transmembrane transporter activity  thiamine transmembrane transporter activity  thiamine transmembrane transporter activity  thiamine transmembrane transporter activity  folic acid transport  thiamine transport  thiamine transport  integral component of membrane  thiamine-containing compound metabolic process  transmembrane transport  thiamine transmembrane transport  
Ontology : EGO-EBIprotein binding  plasma membrane  plasma membrane  plasma membrane  folic acid transmembrane transporter activity  thiamine transmembrane transporter activity  thiamine transmembrane transporter activity  thiamine transmembrane transporter activity  thiamine transmembrane transporter activity  folic acid transport  thiamine transport  thiamine transport  integral component of membrane  thiamine-containing compound metabolic process  transmembrane transport  thiamine transmembrane transport  
Pathways : KEGGVitamin digestion and absorption   
NDEx NetworkSLC19A2
Atlas of Cancer Signalling NetworkSLC19A2
Wikipedia pathwaysSLC19A2
Orthology - Evolution
OrthoDB10560
GeneTree (enSembl)ENSG00000117479
Phylogenetic Trees/Animal Genes : TreeFamSLC19A2
HOGENOMO60779
Homologs : HomoloGeneSLC19A2
Homology/Alignments : Family Browser (UCSC)SLC19A2
Gene fusions - Rearrangements
Fusion : QuiverSLC19A2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC19A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC19A2
dbVarSLC19A2
ClinVarSLC19A2
1000_GenomesSLC19A2 
Exome Variant ServerSLC19A2
ExAC (Exome Aggregation Consortium)ENSG00000117479
GNOMAD BrowserENSG00000117479
Varsome BrowserSLC19A2
Genetic variants : HAPMAP10560
Genomic Variants (DGV)SLC19A2 [DGVbeta]
DECIPHERSLC19A2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC19A2 
Mutations
ICGC Data PortalSLC19A2 
TCGA Data PortalSLC19A2 
Broad Tumor PortalSLC19A2
OASIS PortalSLC19A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC19A2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSLC19A2
Mutations and Diseases : HGMDSLC19A2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)EURO-WABB PROJECT OPEN VARIATION DATABASE
BioMutasearch SLC19A2
DgiDB (Drug Gene Interaction Database)SLC19A2
DoCM (Curated mutations)SLC19A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC19A2 (select a term)
intoGenSLC19A2
Cancer3DSLC19A2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM249270    603941   
Orphanet10643   
DisGeNETSLC19A2
MedgenSLC19A2
Genetic Testing Registry SLC19A2
NextProtO60779 [Medical]
TSGene10560
GENETestsSLC19A2
Target ValidationSLC19A2
Huge Navigator SLC19A2 [HugePedia]
snp3D : Map Gene to Disease10560
BioCentury BCIQSLC19A2
ClinGenSLC19A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10560
Chemical/Pharm GKB GenePA35825
Clinical trialSLC19A2
Miscellaneous
canSAR (ICR)SLC19A2 (select the gene name)
DataMed IndexSLC19A2
Probes
Litterature
PubMed65 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC19A2
EVEXSLC19A2
GoPubMedSLC19A2
iHOPSLC19A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 18:07:43 CET 2019
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