Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC19A3 (solute carrier family 19 (thiamine transporter), member 3)

Identity

Other namesBBGD
THMD2
THTR2
HGNC (Hugo) SLC19A3
LocusID (NCBI) 80704
Location 2q36.3
Location_base_pair Starts at 228549926 and ends at 228582745 bp from pter ( according to hg19-Feb_2009)
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)SLC19A3   16266
Cards
Entrez_Gene (NCBI)SLC19A3  80704  solute carrier family 19 (thiamine transporter), member 3
GeneCards (Weizmann)SLC19A3
Ensembl (Hinxton)ENSG00000135917 [Gene_View]  chr2:228549926-228582745 [Contig_View]  SLC19A3 [Vega]
ICGC DataPortalENSG00000135917
AceView (NCBI)SLC19A3
Genatlas (Paris)SLC19A3
WikiGenes80704
SOURCE (Princeton)NM_025243
Genomic and cartography
GoldenPath (UCSC)SLC19A3  -  2q36.3   chr2:228549926-228582745 -  2q36.3   [Description]    (hg19-Feb_2009)
EnsemblSLC19A3 - 2q36.3 [CytoView]
Mapping of homologs : NCBISLC19A3 [Mapview]
OMIM606152   607483   
Gene and transcription
Genbank (Entrez)AF271633 AF283317 AI056985 AK301490 AK312464
RefSeq transcript (Entrez)NM_025243
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_016359 NT_005403 NW_001838866 NW_004929305
Consensus coding sequences : CCDS (NCBI)SLC19A3
Cluster EST : UnigeneHs.221597 [ NCBI ]
CGAP (NCI)Hs.221597
Alternative Splicing : Fast-db (Paris)GSHG0018391
Alternative Splicing GalleryENSG00000135917
Gene ExpressionSLC19A3 [ NCBI-GEO ]     SLC19A3 [ SEEK ]   SLC19A3 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BZV2 (Uniprot)
NextProtQ9BZV2  [Medical]
With graphics : InterProQ9BZV2
Splice isoforms : SwissVarQ9BZV2 (Swissvar)
Domains : Interpro (EBI)Folate_carrier    MFS_dom_general_subst_transpt    ThTr-2   
Related proteins : CluSTrQ9BZV2
Domain families : Pfam (Sanger)Folate_carrier (PF01770)   
Domain families : Pfam (NCBI)pfam01770   
DMDM Disease mutations80704
Blocks (Seattle)Q9BZV2
Human Protein AtlasENSG00000135917
Peptide AtlasQ9BZV2
HPRD07311
IPIIPI00019278   IPI00922230   IPI00917723   IPI00917280   IPI00917432   IPI00916963   IPI00917761   
Protein Interaction databases
DIP (DOE-UCLA)Q9BZV2
IntAct (EBI)Q9BZV2
FunCoupENSG00000135917
BioGRIDSLC19A3
InParanoidQ9BZV2
Interologous Interaction database Q9BZV2
IntegromeDBSLC19A3
STRING (EMBL)SLC19A3
Ontologies - Pathways
Ontology : AmiGOplasma membrane  vitamin metabolic process  water-soluble vitamin metabolic process  thiamine uptake transmembrane transporter activity  integral component of membrane  thiamine-containing compound metabolic process  small molecule metabolic process  thiamine transmembrane transport  thiamine transmembrane transport  
Ontology : EGO-EBIplasma membrane  vitamin metabolic process  water-soluble vitamin metabolic process  thiamine uptake transmembrane transporter activity  integral component of membrane  thiamine-containing compound metabolic process  small molecule metabolic process  thiamine transmembrane transport  thiamine transmembrane transport  
Pathways : KEGGVitamin digestion and absorption   
Protein Interaction DatabaseSLC19A3
Wikipedia pathwaysSLC19A3
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SLC19A3
SNP (GeneSNP Utah)SLC19A3
SNP : HGBaseSLC19A3
Genetic variants : HAPMAPSLC19A3
1000_GenomesSLC19A3 
ICGC programENSG00000135917 
CONAN: Copy Number AnalysisSLC19A3 
Somatic Mutations in Cancer : COSMICSLC19A3 
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
Mutations and Diseases : HGMDSLC19A3
OMIM606152    607483   
MedgenSLC19A3
GENETestsSLC19A3
Disease Genetic AssociationSLC19A3
Huge Navigator SLC19A3 [HugePedia]  SLC19A3 [HugeCancerGEM]
Genomic VariantsSLC19A3  SLC19A3 [DGVbeta]
Exome VariantSLC19A3
dbVarSLC19A3
ClinVarSLC19A3
snp3D : Map Gene to Disease80704
General knowledge
Homologs : HomoloGeneSLC19A3
Homology/Alignments : Family Browser (UCSC)SLC19A3
Phylogenetic Trees/Animal Genes : TreeFamSLC19A3
Chemical/Protein Interactions : CTD80704
Chemical/Pharm GKB GenePA38397
Clinical trialSLC19A3
Cancer Resource (Charite)ENSG00000135917
Other databases
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
CoreMineSLC19A3
iHOPSLC19A3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 13 13:16:46 CEST 2014

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