Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC7A2 (solute carrier family 7 member 2)

Identity

Alias_namesATRC2
solute carrier family 7 (cationic amino acid transporter
Alias_symbol (synonym)CAT-2
HCAT2
Other aliasCAT2
HGNC (Hugo) SLC7A2
LocusID (NCBI) 6542
Atlas_Id 56383
Location 8p22  [Link to chromosome band 8p22]
Location_base_pair Starts at 17354597 and ends at 17428077 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CLSTN1 (1p36.22) / SLC7A2 (8p22)SLC7A2 (8p22) / ETS2 (21q22.2)SLC7A2 (8p22) / SLC7A2 (8p22)

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)SLC7A2   11060
Cards
Entrez_Gene (NCBI)SLC7A2  6542  solute carrier family 7 member 2
AliasesATRC2; CAT2; HCAT2
GeneCards (Weizmann)SLC7A2
Ensembl hg19 (Hinxton)ENSG00000003989 [Gene_View]  chr8:17354597-17428077 [Contig_View]  SLC7A2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000003989 [Gene_View]  chr8:17354597-17428077 [Contig_View]  SLC7A2 [Vega]
ICGC DataPortalENSG00000003989
TCGA cBioPortalSLC7A2
AceView (NCBI)SLC7A2
Genatlas (Paris)SLC7A2
WikiGenes6542
SOURCE (Princeton)SLC7A2
Genetics Home Reference (NIH)SLC7A2
Genomic and cartography
GoldenPath hg19 (UCSC)SLC7A2  -     chr8:17354597-17428077 +  8p22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SLC7A2  -     8p22   [Description]    (hg38-Dec_2013)
EnsemblSLC7A2 - 8p22 [CytoView hg19]  SLC7A2 - 8p22 [CytoView hg38]
Mapping of homologs : NCBISLC7A2 [Mapview hg19]  SLC7A2 [Mapview hg38]
OMIM601872   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001008539 NM_001164771 NM_003046
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC7A2
Cluster EST : UnigeneHs.448520 [ NCBI ]
CGAP (NCI)Hs.448520
Alternative Splicing GalleryENSG00000003989
Gene ExpressionSLC7A2 [ NCBI-GEO ]   SLC7A2 [ EBI - ARRAY_EXPRESS ]   SLC7A2 [ SEEK ]   SLC7A2 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC7A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6542
GTEX Portal (Tissue expression)SLC7A2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP52569   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP52569  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP52569
Splice isoforms : SwissVarP52569
PhosPhoSitePlusP52569
Domains : Interpro (EBI)AA/rel_permease1    Cat_AA_permease    CAT_C   
Domain families : Pfam (Sanger)AA_permease_2 (PF13520)    AA_permease_C (PF13906)   
Domain families : Pfam (NCBI)pfam13520    pfam13906   
Conserved Domain (NCBI)SLC7A2
DMDM Disease mutations6542
Blocks (Seattle)SLC7A2
SuperfamilyP52569
Human Protein AtlasENSG00000003989
Peptide AtlasP52569
HPRD03524
IPIIPI00003819   IPI00873323   IPI00930563   
Protein Interaction databases
DIP (DOE-UCLA)P52569
IntAct (EBI)P52569
FunCoupENSG00000003989
BioGRIDSLC7A2
STRING (EMBL)SLC7A2
ZODIACSLC7A2
Ontologies - Pathways
QuickGOP52569
Ontology : AmiGOnitric oxide production involved in inflammatory response  high-affinity arginine transmembrane transporter activity  high-affinity lysine transmembrane transporter activity  plasma membrane  integral component of plasma membrane  cellular amino acid metabolic process  nitric oxide biosynthetic process  transport  amino acid transport  amino acid transmembrane transporter activity  basic amino acid transmembrane transporter activity  L-amino acid transmembrane transporter activity  antiporter activity  L-amino acid transport  arginine transport  membrane  macrophage activation  regulation of macrophage activation  regulation of inflammatory response  low-affinity L-arginine transmembrane transporter activity  high-affinity L-ornithine transmembrane transporter activity  L-arginine import across plasma membrane  L-lysine import across plasma membrane  L-ornithine import across plasma membrane  basic amino acid transmembrane transport  
Ontology : EGO-EBInitric oxide production involved in inflammatory response  high-affinity arginine transmembrane transporter activity  high-affinity lysine transmembrane transporter activity  plasma membrane  integral component of plasma membrane  cellular amino acid metabolic process  nitric oxide biosynthetic process  transport  amino acid transport  amino acid transmembrane transporter activity  basic amino acid transmembrane transporter activity  L-amino acid transmembrane transporter activity  antiporter activity  L-amino acid transport  arginine transport  membrane  macrophage activation  regulation of macrophage activation  regulation of inflammatory response  low-affinity L-arginine transmembrane transporter activity  high-affinity L-ornithine transmembrane transporter activity  L-arginine import across plasma membrane  L-lysine import across plasma membrane  L-ornithine import across plasma membrane  basic amino acid transmembrane transport  
NDEx NetworkSLC7A2
Atlas of Cancer Signalling NetworkSLC7A2
Wikipedia pathwaysSLC7A2
Orthology - Evolution
OrthoDB6542
GeneTree (enSembl)ENSG00000003989
Phylogenetic Trees/Animal Genes : TreeFamSLC7A2
HOVERGENP52569
HOGENOMP52569
Homologs : HomoloGeneSLC7A2
Homology/Alignments : Family Browser (UCSC)SLC7A2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC7A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC7A2
dbVarSLC7A2
ClinVarSLC7A2
1000_GenomesSLC7A2 
Exome Variant ServerSLC7A2
ExAC (Exome Aggregation Consortium)SLC7A2 (select the gene name)
Genetic variants : HAPMAP6542
Genomic Variants (DGV)SLC7A2 [DGVbeta]
DECIPHER (Syndromes)8:17354597-17428077  ENSG00000003989
CONAN: Copy Number AnalysisSLC7A2 
Mutations
ICGC Data PortalSLC7A2 
TCGA Data PortalSLC7A2 
Broad Tumor PortalSLC7A2
OASIS PortalSLC7A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC7A2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC7A2
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
BioMutasearch SLC7A2
DgiDB (Drug Gene Interaction Database)SLC7A2
DoCM (Curated mutations)SLC7A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC7A2 (select a term)
intoGenSLC7A2
Cancer3DSLC7A2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601872   
Orphanet
MedgenSLC7A2
Genetic Testing Registry SLC7A2
NextProtP52569 [Medical]
TSGene6542
GENETestsSLC7A2
Huge Navigator SLC7A2 [HugePedia]
snp3D : Map Gene to Disease6542
BioCentury BCIQSLC7A2
ClinGenSLC7A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6542
Chemical/Pharm GKB GenePA35920
Clinical trialSLC7A2
Miscellaneous
canSAR (ICR)SLC7A2 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC7A2
EVEXSLC7A2
GoPubMedSLC7A2
iHOPSLC7A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:28:03 CET 2017

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