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SLC6A8 (solute carrier family 6 member 8)

Identity

Alias_namessolute carrier family 6 (neurotransmitter transporter, creatine), member 8
solute carrier family 6 (neurotransmitter transporter), member 8
Alias_symbol (synonym)CRTR
CT1
Other aliasCCDS1
CRT
CTR5
HGNC (Hugo) SLC6A8
LocusID (NCBI) 6535
Atlas_Id 73479
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 153688297 and ends at 153696593 bp from pter ( according to hg38-Dec_2013)

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)SLC6A8   11055
Cards
Entrez_Gene (NCBI)SLC6A8  6535  solute carrier family 6 member 8
AliasesCCDS1; CRT; CRTR; CT1; 
CTR5
GeneCards (Weizmann)SLC6A8
Ensembl hg19 (Hinxton)ENSG00000130821 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130821 [Gene_View]  chrX:153688297-153696593 [Contig_View]  SLC6A8 [Vega]
ICGC DataPortalENSG00000130821
TCGA cBioPortalSLC6A8
AceView (NCBI)SLC6A8
Genatlas (Paris)SLC6A8
WikiGenes6535
SOURCE (Princeton)SLC6A8
Genetics Home Reference (NIH)SLC6A8
Genomic and cartography
GoldenPath hg38 (UCSC)SLC6A8  -     chrX:153688297-153696593 +  Xq28   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC6A8  -     Xq28   [Description]    (hg19-Feb_2009)
EnsemblSLC6A8 - Xq28 [CytoView hg19]  SLC6A8 - Xq28 [CytoView hg38]
Mapping of homologs : NCBISLC6A8 [Mapview hg19]  SLC6A8 [Mapview hg38]
OMIM300036   300352   
Gene and transcription
Genbank (Entrez)AB209704 AK295495 AK309060 BC012355 BC081558
RefSeq transcript (Entrez)NM_001142805 NM_001142806 NM_005629
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC6A8
Cluster EST : UnigeneHs.540696 [ NCBI ]
CGAP (NCI)Hs.540696
Alternative Splicing GalleryENSG00000130821
Gene ExpressionSLC6A8 [ NCBI-GEO ]   SLC6A8 [ EBI - ARRAY_EXPRESS ]   SLC6A8 [ SEEK ]   SLC6A8 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC6A8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6535
GTEX Portal (Tissue expression)SLC6A8
Protein : pattern, domain, 3D structure
UniProt/SwissProtP48029   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP48029  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP48029
Splice isoforms : SwissVarP48029
PhosPhoSitePlusP48029
Domaine pattern : Prosite (Expaxy)NA_NEUROTRAN_SYMP_1 (PS00610)    NA_NEUROTRAN_SYMP_2 (PS00754)    NA_NEUROTRAN_SYMP_3 (PS50267)   
Domains : Interpro (EBI)Na/ntran_symport    Na/ntran_symport_creatine   
Domain families : Pfam (Sanger)SNF (PF00209)   
Domain families : Pfam (NCBI)pfam00209   
Conserved Domain (NCBI)SLC6A8
DMDM Disease mutations6535
Blocks (Seattle)SLC6A8
SuperfamilyP48029
Human Protein AtlasENSG00000130821
Peptide AtlasP48029
HPRD02073
IPIIPI00007582   IPI00640392   IPI00011460   IPI00641702   IPI00644240   IPI01011568   IPI00641998   IPI00643481   
Protein Interaction databases
DIP (DOE-UCLA)P48029
IntAct (EBI)P48029
FunCoupENSG00000130821
BioGRIDSLC6A8
STRING (EMBL)SLC6A8
ZODIACSLC6A8
Ontologies - Pathways
QuickGOP48029
Ontology : AmiGOmolecular_function  creatine transmembrane transporter activity  creatine:sodium symporter activity  creatine:sodium symporter activity  neurotransmitter:sodium symporter activity  cellular_component  plasma membrane  integral component of plasma membrane  creatine metabolic process  transport  sodium ion transport  neurotransmitter transport  muscle contraction  biological_process  creatine transport  creatine transport  integral component of membrane  creatine transmembrane transport  
Ontology : EGO-EBImolecular_function  creatine transmembrane transporter activity  creatine:sodium symporter activity  creatine:sodium symporter activity  neurotransmitter:sodium symporter activity  cellular_component  plasma membrane  integral component of plasma membrane  creatine metabolic process  transport  sodium ion transport  neurotransmitter transport  muscle contraction  biological_process  creatine transport  creatine transport  integral component of membrane  creatine transmembrane transport  
NDEx NetworkSLC6A8
Atlas of Cancer Signalling NetworkSLC6A8
Wikipedia pathwaysSLC6A8
Orthology - Evolution
OrthoDB6535
GeneTree (enSembl)ENSG00000130821
Phylogenetic Trees/Animal Genes : TreeFamSLC6A8
HOVERGENP48029
HOGENOMP48029
Homologs : HomoloGeneSLC6A8
Homology/Alignments : Family Browser (UCSC)SLC6A8
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC6A8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC6A8
dbVarSLC6A8
ClinVarSLC6A8
1000_GenomesSLC6A8 
Exome Variant ServerSLC6A8
ExAC (Exome Aggregation Consortium)SLC6A8 (select the gene name)
Genetic variants : HAPMAP6535
Genomic Variants (DGV)SLC6A8 [DGVbeta]
DECIPHERSLC6A8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC6A8 
Mutations
ICGC Data PortalSLC6A8 
TCGA Data PortalSLC6A8 
Broad Tumor PortalSLC6A8
OASIS PortalSLC6A8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC6A8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC6A8
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch SLC6A8
DgiDB (Drug Gene Interaction Database)SLC6A8
DoCM (Curated mutations)SLC6A8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC6A8 (select a term)
intoGenSLC6A8
Cancer3DSLC6A8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300036    300352   
Orphanet10699   
MedgenSLC6A8
Genetic Testing Registry SLC6A8
NextProtP48029 [Medical]
TSGene6535
GENETestsSLC6A8
Target ValidationSLC6A8
Huge Navigator SLC6A8 [HugePedia]
snp3D : Map Gene to Disease6535
BioCentury BCIQSLC6A8
ClinGenSLC6A8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6535
Chemical/Pharm GKB GenePA35915
Clinical trialSLC6A8
Miscellaneous
canSAR (ICR)SLC6A8 (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC6A8
EVEXSLC6A8
GoPubMedSLC6A8
iHOPSLC6A8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 31 15:41:27 CEST 2017

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