Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC22A5 (solute carrier family 22 member 5)

Identity

Alias_namesCDSP
solute carrier family 22 (organic cation/carnitine transporter)
Alias_symbol (synonym)OCTN2
SCD
Other alias
HGNC (Hugo) SLC22A5
LocusID (NCBI) 6584
Atlas_Id 52518
Location 5q31.1  [Link to chromosome band 5q31]
Location_base_pair Starts at 132369709 and ends at 132395614 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C5orf56 () / SLC22A5 (5q31.1)

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)SLC22A5   10969
Cards
Entrez_Gene (NCBI)SLC22A5  6584  solute carrier family 22 member 5
AliasesCDSP; OCTN2
GeneCards (Weizmann)SLC22A5
Ensembl hg19 (Hinxton)ENSG00000197375 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197375 [Gene_View]  chr5:132369709-132395614 [Contig_View]  SLC22A5 [Vega]
ICGC DataPortalENSG00000197375
TCGA cBioPortalSLC22A5
AceView (NCBI)SLC22A5
Genatlas (Paris)SLC22A5
WikiGenes6584
SOURCE (Princeton)SLC22A5
Genetics Home Reference (NIH)SLC22A5
Genomic and cartography
GoldenPath hg38 (UCSC)SLC22A5  -     chr5:132369709-132395614 +  5q31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC22A5  -     5q31.1   [Description]    (hg19-Feb_2009)
EnsemblSLC22A5 - 5q31.1 [CytoView hg19]  SLC22A5 - 5q31.1 [CytoView hg38]
Mapping of homologs : NCBISLC22A5 [Mapview hg19]  SLC22A5 [Mapview hg38]
OMIM212140   603377   
Gene and transcription
Genbank (Entrez)AB015050 AB209484 AB291606 AF057164 AK128610
RefSeq transcript (Entrez)NM_001308122 NM_003060
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC22A5
Cluster EST : UnigeneHs.443572 [ NCBI ]
CGAP (NCI)Hs.443572
Alternative Splicing GalleryENSG00000197375
Gene ExpressionSLC22A5 [ NCBI-GEO ]   SLC22A5 [ EBI - ARRAY_EXPRESS ]   SLC22A5 [ SEEK ]   SLC22A5 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC22A5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6584
GTEX Portal (Tissue expression)SLC22A5
Protein : pattern, domain, 3D structure
UniProt/SwissProtO76082   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO76082  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO76082
Splice isoforms : SwissVarO76082
PhosPhoSitePlusO76082
Domaine pattern : Prosite (Expaxy)MFS (PS50850)    SUGAR_TRANSPORT_1 (PS00216)   
Domains : Interpro (EBI)MFS_dom    MFS_sugar_transport-like    Orgcat_transp/SVOP    Sugar_transporter_CS   
Domain families : Pfam (Sanger)Sugar_tr (PF00083)   
Domain families : Pfam (NCBI)pfam00083   
Conserved Domain (NCBI)SLC22A5
DMDM Disease mutations6584
Blocks (Seattle)SLC22A5
SuperfamilyO76082
Human Protein AtlasENSG00000197375
Peptide AtlasO76082
HPRD04539
IPIIPI00435872   IPI00435873   IPI00829886   IPI00555976   IPI00894282   IPI00926218   
Protein Interaction databases
DIP (DOE-UCLA)O76082
IntAct (EBI)O76082
FunCoupENSG00000197375
BioGRIDSLC22A5
STRING (EMBL)SLC22A5
ZODIACSLC22A5
Ontologies - Pathways
QuickGOO76082
Ontology : AmiGOprotein binding  ATP binding  plasma membrane  plasma membrane  integral component of plasma membrane  sodium ion transport  drug transmembrane transport  organic anion transmembrane transporter activity  carnitine metabolic process  carnitine transmembrane transporter activity  carnitine transmembrane transporter activity  carnitine transmembrane transporter activity  drug transmembrane transporter activity  symporter activity  cation:cation antiporter activity  quaternary ammonium group transmembrane transporter activity  quaternary ammonium group transport  organic anion transport  carnitine transport  carnitine transport  drug transport  apical plasma membrane  PDZ domain binding  brush border membrane  brush border membrane  quorum sensing involved in interaction with host  positive regulation of intestinal epithelial structure maintenance  extracellular exosome  sodium-dependent organic cation transport  carnitine transmembrane transport  
Ontology : EGO-EBIprotein binding  ATP binding  plasma membrane  plasma membrane  integral component of plasma membrane  sodium ion transport  drug transmembrane transport  organic anion transmembrane transporter activity  carnitine metabolic process  carnitine transmembrane transporter activity  carnitine transmembrane transporter activity  carnitine transmembrane transporter activity  drug transmembrane transporter activity  symporter activity  cation:cation antiporter activity  quaternary ammonium group transmembrane transporter activity  quaternary ammonium group transport  organic anion transport  carnitine transport  carnitine transport  drug transport  apical plasma membrane  PDZ domain binding  brush border membrane  brush border membrane  quorum sensing involved in interaction with host  positive regulation of intestinal epithelial structure maintenance  extracellular exosome  sodium-dependent organic cation transport  carnitine transmembrane transport  
NDEx NetworkSLC22A5
Atlas of Cancer Signalling NetworkSLC22A5
Wikipedia pathwaysSLC22A5
Orthology - Evolution
OrthoDB6584
GeneTree (enSembl)ENSG00000197375
Phylogenetic Trees/Animal Genes : TreeFamSLC22A5
HOVERGENO76082
HOGENOMO76082
Homologs : HomoloGeneSLC22A5
Homology/Alignments : Family Browser (UCSC)SLC22A5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC22A5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC22A5
dbVarSLC22A5
ClinVarSLC22A5
1000_GenomesSLC22A5 
Exome Variant ServerSLC22A5
ExAC (Exome Aggregation Consortium)SLC22A5 (select the gene name)
Genetic variants : HAPMAP6584
Genomic Variants (DGV)SLC22A5 [DGVbeta]
DECIPHERSLC22A5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC22A5 
Mutations
ICGC Data PortalSLC22A5 
TCGA Data PortalSLC22A5 
Broad Tumor PortalSLC22A5
OASIS PortalSLC22A5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC22A5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC22A5
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)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)TBsLVD Tuberculosis susceptibility Locus Variation Database
BioMutasearch SLC22A5
DgiDB (Drug Gene Interaction Database)SLC22A5
DoCM (Curated mutations)SLC22A5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC22A5 (select a term)
intoGenSLC22A5
Cancer3DSLC22A5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM212140    603377   
Orphanet3316   
MedgenSLC22A5
Genetic Testing Registry SLC22A5
NextProtO76082 [Medical]
TSGene6584
GENETestsSLC22A5
Target ValidationSLC22A5
Huge Navigator SLC22A5 [HugePedia]
snp3D : Map Gene to Disease6584
BioCentury BCIQSLC22A5
ClinGenSLC22A5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6584
Chemical/Pharm GKB GenePA333
Clinical trialSLC22A5
Miscellaneous
canSAR (ICR)SLC22A5 (select the gene name)
Probes
Litterature
PubMed151 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC22A5
EVEXSLC22A5
GoPubMedSLC22A5
iHOPSLC22A5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:31:22 CEST 2017

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