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SLC22A4 (solute carrier family 22 (organic cation/zwitterion transporter), member 4)

Identity

Other namesOCTN1
HGNC (Hugo) SLC22A4
LocusID (NCBI) 6583
Atlas_Id 52522
Location 5q31.1
Location_base_pair Starts at 131630145 and ends at 131679899 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)SLC22A4   10968
Cards
Entrez_Gene (NCBI)SLC22A4  6583  solute carrier family 22 (organic cation/zwitterion transporter), member 4
GeneCards (Weizmann)SLC22A4
Ensembl hg19 (Hinxton)ENSG00000197208 [Gene_View]  chr5:131630145-131679899 [Contig_View]  SLC22A4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000197208 [Gene_View]  chr5:131630145-131679899 [Contig_View]  SLC22A4 [Vega]
ICGC DataPortalENSG00000197208
TCGA cBioPortalSLC22A4
AceView (NCBI)SLC22A4
Genatlas (Paris)SLC22A4
WikiGenes6583
SOURCE (Princeton)SLC22A4
Genomic and cartography
GoldenPath hg19 (UCSC)SLC22A4  -     chr5:131630145-131679899 +  5q31.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SLC22A4  -     5q31.1   [Description]    (hg38-Dec_2013)
EnsemblSLC22A4 - 5q31.1 [CytoView hg19]  SLC22A4 - 5q31.1 [CytoView hg38]
Mapping of homologs : NCBISLC22A4 [Mapview hg19]  SLC22A4 [Mapview hg38]
OMIM180300   604190   
Gene and transcription
Genbank (Entrez)AB007448 AK310818 BC028313 DQ890816 DQ893972
RefSeq transcript (Entrez)NM_003059
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_012129 NT_034772 NW_004929323
Consensus coding sequences : CCDS (NCBI)SLC22A4
Cluster EST : UnigeneHs.310591 [ NCBI ]
CGAP (NCI)Hs.310591
Alternative Splicing : Fast-db (Paris)GSHG0024221
Alternative Splicing GalleryENSG00000197208
Gene ExpressionSLC22A4 [ NCBI-GEO ]     SLC22A4 [ SEEK ]   SLC22A4 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H015 (Uniprot)
NextProtQ9H015  [Medical]
With graphics : InterProQ9H015
Splice isoforms : SwissVarQ9H015 (Swissvar)
Domaine pattern : Prosite (Expaxy)MFS (PS50850)    SUGAR_TRANSPORT_1 (PS00216)   
Domains : Interpro (EBI)MFS_dom    Orgcat_transp    Sub_transporter    Sugar_transporter_CS   
Related proteins : CluSTrQ9H015
Domain families : Pfam (Sanger)Sugar_tr (PF00083)   
Domain families : Pfam (NCBI)pfam00083   
DMDM Disease mutations6583
Blocks (Seattle)Q9H015
Human Protein AtlasENSG00000197208
Peptide AtlasQ9H015
HPRD09171
IPIIPI00171334   IPI00892629   
Protein Interaction databases
DIP (DOE-UCLA)Q9H015
IntAct (EBI)Q9H015
FunCoupENSG00000197208
BioGRIDSLC22A4
IntegromeDBSLC22A4
STRING (EMBL)SLC22A4
Ontologies - Pathways
QuickGOQ9H015
Ontology : AmiGOnucleotide binding  protein binding  ATP binding  mitochondrion  plasma membrane  plasma membrane  integral component of plasma membrane  triglyceride metabolic process  sodium ion transport  body fluid secretion  secondary active organic cation transmembrane transporter activity  carnitine metabolic process  carnitine transmembrane transporter activity  symporter activity  cation:cation antiporter activity  quaternary ammonium group transmembrane transporter activity  organic cation transport  quaternary ammonium group transport  carnitine transport  apical plasma membrane  PDZ domain binding  transmembrane transport  carnitine transmembrane transport  
Ontology : EGO-EBInucleotide binding  protein binding  ATP binding  mitochondrion  plasma membrane  plasma membrane  integral component of plasma membrane  triglyceride metabolic process  sodium ion transport  body fluid secretion  secondary active organic cation transmembrane transporter activity  carnitine metabolic process  carnitine transmembrane transporter activity  symporter activity  cation:cation antiporter activity  quaternary ammonium group transmembrane transporter activity  organic cation transport  quaternary ammonium group transport  carnitine transport  apical plasma membrane  PDZ domain binding  transmembrane transport  carnitine transmembrane transport  
Protein Interaction DatabaseSLC22A4
DoCM (Curated mutations)SLC22A4
Wikipedia pathwaysSLC22A4
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerSLC22A4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC22A4
dbVarSLC22A4
ClinVarSLC22A4
1000_GenomesSLC22A4 
Exome Variant ServerSLC22A4
SNP (GeneSNP Utah)SLC22A4
SNP : HGBaseSLC22A4
Genetic variants : HAPMAPSLC22A4
Genomic Variants (DGV)SLC22A4 [DGVbeta]
Mutations
ICGC Data PortalSLC22A4 
TCGA Data PortalSLC22A4 
Tumor PortalSLC22A4
Somatic Mutations in Cancer : COSMICSLC22A4 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:131630145-131679899
CONAN: Copy Number AnalysisSLC22A4 
Mutations and Diseases : HGMDSLC22A4
OMIM180300    604190   
MedgenSLC22A4
NextProtQ9H015 [Medical]
GENETestsSLC22A4
Disease Genetic AssociationSLC22A4
Huge Navigator SLC22A4 [HugePedia]  SLC22A4 [HugeCancerGEM]
snp3D : Map Gene to Disease6583
DGIdb (Drug Gene Interaction db)SLC22A4
General knowledge
Homologs : HomoloGeneSLC22A4
Homology/Alignments : Family Browser (UCSC)SLC22A4
Phylogenetic Trees/Animal Genes : TreeFamSLC22A4
Chemical/Protein Interactions : CTD6583
Chemical/Pharm GKB GenePA332
Clinical trialSLC22A4
Cancer Resource (Charite)ENSG00000197208
Other databases
Probes
Litterature
PubMed117 Pubmed reference(s) in Entrez
CoreMineSLC22A4
GoPubMedSLC22A4
iHOPSLC22A4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 20 20:05:12 CEST 2015

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