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SLC3A2 (solute carrier family 3 member 2)

Identity

Alias_namesMDU1
solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2
solute carrier family 3 (amino acid transporter heavy chain), member 2
Alias_symbol (synonym)4T2HC
4F2
NACAE
CD98
CD98HC
4F2HC
Other alias
HGNC (Hugo) SLC3A2
LocusID (NCBI) 6520
Atlas_Id 46372
Location 11q12.3  [Link to chromosome band 11q12]
Location_base_pair Starts at 62856012 and ends at 62888883 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ADGRB2 (1p35.2) / SLC3A2 (11q12.3)NQO2 (6p25.2) / SLC3A2 (11q12.3)SLC3A2 (11q12.3) / GSK3A (19q13.2)
SLC3A2 (11q12.3) / NRG1 (8p12)SLC3A2 (11q12.3) / NXF1 (11q12.3)SLC3A2 (11q12.3) / PLA2G16 (11q12.3)
SLC3A2 (11q12.3) / POLR2G (11q12.3)SLC3A2 (11q12.3) / SLC3A2 (11q12.3)SLC3A2 (11q12.3) / VCP (9p13.3)
VPS37C (11q12.2) / SLC3A2 (11q12.3)SLC3A2 11q12.3 / NXF1 11q12.3SLC3A2 11q12.3 / POLR2G 11q12.3
VPS37C 11q12.2 / SLC3A2 11q12.3

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)SLC3A2   11026
Cards
Entrez_Gene (NCBI)SLC3A2  6520  solute carrier family 3 member 2
Aliases4F2; 4F2HC; 4T2HC; CD98; 
CD98HC; MDU1; NACAE
GeneCards (Weizmann)SLC3A2
Ensembl hg19 (Hinxton)ENSG00000168003 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168003 [Gene_View]  chr11:62856012-62888883 [Contig_View]  SLC3A2 [Vega]
ICGC DataPortalENSG00000168003
TCGA cBioPortalSLC3A2
AceView (NCBI)SLC3A2
Genatlas (Paris)SLC3A2
WikiGenes6520
SOURCE (Princeton)SLC3A2
Genetics Home Reference (NIH)SLC3A2
Genomic and cartography
GoldenPath hg38 (UCSC)SLC3A2  -     chr11:62856012-62888883 +  11q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC3A2  -     11q12.3   [Description]    (hg19-Feb_2009)
EnsemblSLC3A2 - 11q12.3 [CytoView hg19]  SLC3A2 - 11q12.3 [CytoView hg38]
Mapping of homologs : NCBISLC3A2 [Mapview hg19]  SLC3A2 [Mapview hg38]
OMIM158070   
Gene and transcription
Genbank (Entrez)AA594112 AB018010 AF055031 AK025584 AK090758
RefSeq transcript (Entrez)NM_001012661 NM_001012662 NM_001012663 NM_001012664 NM_001013251 NM_002394
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC3A2
Cluster EST : UnigeneHs.502769 [ NCBI ]
CGAP (NCI)Hs.502769
Alternative Splicing GalleryENSG00000168003
Gene ExpressionSLC3A2 [ NCBI-GEO ]   SLC3A2 [ EBI - ARRAY_EXPRESS ]   SLC3A2 [ SEEK ]   SLC3A2 [ MEM ]
Gene Expression Viewer (FireBrowse)SLC3A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6520
GTEX Portal (Tissue expression)SLC3A2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08195   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP08195  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP08195
Splice isoforms : SwissVarP08195
PhosPhoSitePlusP08195
Domains : Interpro (EBI)Glyco_hydro_13_cat_dom    Glyco_hydro_b    Glyco_hydro_catalytic_dom    Glycoside_hydrolase_SF    SLC3A2_N   
Domain families : Pfam (Sanger)Alpha-amylase (PF00128)    SLC3A2_N (PF16028)   
Domain families : Pfam (NCBI)pfam00128    pfam16028   
Domain families : Smart (EMBL)Aamy (SM00642)  
Conserved Domain (NCBI)SLC3A2
DMDM Disease mutations6520
Blocks (Seattle)SLC3A2
PDB (SRS)2DH2    2DH3   
PDB (PDBSum)2DH2    2DH3   
PDB (IMB)2DH2    2DH3   
PDB (RSDB)2DH2    2DH3   
Structural Biology KnowledgeBase2DH2    2DH3   
SCOP (Structural Classification of Proteins)2DH2    2DH3   
CATH (Classification of proteins structures)2DH2    2DH3   
SuperfamilyP08195
Human Protein AtlasENSG00000168003
Peptide AtlasP08195
HPRD01148
IPIIPI00604710   IPI00027493   IPI00554722   IPI00554481   IPI01013280   IPI00908885   IPI01010400   IPI01010919   IPI01011854   IPI01012329   IPI01012819   IPI01013744   IPI01014635   IPI00554611   
Protein Interaction databases
DIP (DOE-UCLA)P08195
IntAct (EBI)P08195
FunCoupENSG00000168003
BioGRIDSLC3A2
STRING (EMBL)SLC3A2
ZODIACSLC3A2
Ontologies - Pathways
QuickGOP08195
Ontology : AmiGORNA binding  double-stranded RNA binding  catalytic activity  calcium:sodium antiporter activity  protein binding  nucleus  cytosol  plasma membrane  plasma membrane  carbohydrate metabolic process  tryptophan catabolic process  calcium ion transport  amino acid transport  cell surface  neutral amino acid transmembrane transporter activity  tryptophan transport  membrane  integral component of membrane  cell growth  apical plasma membrane  sodium ion transmembrane transport  melanosome  response to exogenous dsRNA  cadherin binding  leukocyte migration  leucine import  extracellular exosome  
Ontology : EGO-EBIRNA binding  double-stranded RNA binding  catalytic activity  calcium:sodium antiporter activity  protein binding  nucleus  cytosol  plasma membrane  plasma membrane  carbohydrate metabolic process  tryptophan catabolic process  calcium ion transport  amino acid transport  cell surface  neutral amino acid transmembrane transporter activity  tryptophan transport  membrane  integral component of membrane  cell growth  apical plasma membrane  sodium ion transmembrane transport  melanosome  response to exogenous dsRNA  cadherin binding  leukocyte migration  leucine import  extracellular exosome  
Pathways : KEGGProtein digestion and absorption   
NDEx NetworkSLC3A2
Atlas of Cancer Signalling NetworkSLC3A2
Wikipedia pathwaysSLC3A2
Orthology - Evolution
OrthoDB6520
GeneTree (enSembl)ENSG00000168003
Phylogenetic Trees/Animal Genes : TreeFamSLC3A2
HOVERGENP08195
HOGENOMP08195
Homologs : HomoloGeneSLC3A2
Homology/Alignments : Family Browser (UCSC)SLC3A2
Gene fusions - Rearrangements
Fusion : MitelmanSLC3A2/NXF1 [11q12.3/11q12.3]  
Fusion : MitelmanSLC3A2/POLR2G [11q12.3/11q12.3]  [t(11;11)(q12;q12)]  
Fusion : MitelmanVPS37C/SLC3A2 [11q12.2/11q12.3]  [t(11;11)(q12;q12)]  
Fusion: TCGASLC3A2 11q12.3 NXF1 11q12.3 BRCA
Fusion: TCGASLC3A2 11q12.3 POLR2G 11q12.3 HNSC
Fusion: TCGAVPS37C 11q12.2 SLC3A2 11q12.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC3A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC3A2
dbVarSLC3A2
ClinVarSLC3A2
1000_GenomesSLC3A2 
Exome Variant ServerSLC3A2
ExAC (Exome Aggregation Consortium)SLC3A2 (select the gene name)
Genetic variants : HAPMAP6520
Genomic Variants (DGV)SLC3A2 [DGVbeta]
DECIPHERSLC3A2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC3A2 
Mutations
ICGC Data PortalSLC3A2 
TCGA Data PortalSLC3A2 
Broad Tumor PortalSLC3A2
OASIS PortalSLC3A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC3A2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC3A2
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 SLC3A2
DgiDB (Drug Gene Interaction Database)SLC3A2
DoCM (Curated mutations)SLC3A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC3A2 (select a term)
intoGenSLC3A2
Cancer3DSLC3A2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM158070   
Orphanet
MedgenSLC3A2
Genetic Testing Registry SLC3A2
NextProtP08195 [Medical]
TSGene6520
GENETestsSLC3A2
Target ValidationSLC3A2
Huge Navigator SLC3A2 [HugePedia]
snp3D : Map Gene to Disease6520
BioCentury BCIQSLC3A2
ClinGenSLC3A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6520
Chemical/Pharm GKB GenePA35894
Clinical trialSLC3A2
Miscellaneous
canSAR (ICR)SLC3A2 (select the gene name)
Probes
Litterature
PubMed156 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC3A2
EVEXSLC3A2
GoPubMedSLC3A2
iHOPSLC3A2
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 : Mon Sep 25 19:31:43 CEST 2017

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