Atlas of Genetics and Cytogenetics in Oncology and Haematology

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NT5C2 (5'-nucleotidase, cytosolic II)

Identity

Alias_namesNT5B
5'-nucleotidase (purine)
Alias_symbol (synonym)PNT5
GMP
cN-II
SPG65
Other aliasSPG45
HGNC (Hugo) NT5C2
LocusID (NCBI) 22978
Atlas_Id 46089
Location 10q24.32  [Link to chromosome band 10q24]
Location_base_pair Starts at 103088017 and ends at 103193306 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		AD_1 () / NT5C2 (10q24.32)NT5C2 (10q24.32) / ASAH2 (10q11.23)NT5C2 (10q24.32) / C10orf120 (10q26.13)
NT5C2 (10q24.32) / KMT2A (11q23.3)NT5C2 (10q24.32) / NT5C2 (10q24.32)NT5C2 (10q24.32) / SHOC2 (10q25.2)
NT5C2 10q24.32 / C10orf120 10q26.13

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)NT5C2   8022
Cards
Entrez_Gene (NCBI)NT5C2  22978  5'-nucleotidase, cytosolic II
AliasesGMP; NT5B; PNT5; SPG45; 
SPG65; cN-II
GeneCards (Weizmann)NT5C2
Ensembl hg19 (Hinxton)ENSG00000076685 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000076685 [Gene_View]  chr10:103088017-103193306 [Contig_View]  NT5C2 [Vega]
ICGC DataPortalENSG00000076685
TCGA cBioPortalNT5C2
AceView (NCBI)NT5C2
Genatlas (Paris)NT5C2
WikiGenes22978
SOURCE (Princeton)NT5C2
Genetics Home Reference (NIH)NT5C2
Genomic and cartography
GoldenPath hg38 (UCSC)NT5C2  -     chr10:103088017-103193306 -  10q24.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NT5C2  -     10q24.32   [Description]    (hg19-Feb_2009)
EnsemblNT5C2 - 10q24.32 [CytoView hg19]  NT5C2 - 10q24.32 [CytoView hg38]
Mapping of homologs : NCBINT5C2 [Mapview hg19]  NT5C2 [Mapview hg38]
OMIM600417   613162   
Gene and transcription
Genbank (Entrez)AK127670 AK291667 AK295593 AK312517 BC001595
RefSeq transcript (Entrez)NM_001134373 NM_012229
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NT5C2
Cluster EST : UnigeneHs.97439 [ NCBI ]
CGAP (NCI)Hs.97439
Alternative Splicing GalleryENSG00000076685
Gene ExpressionNT5C2 [ NCBI-GEO ]   NT5C2 [ EBI - ARRAY_EXPRESS ]   NT5C2 [ SEEK ]   NT5C2 [ MEM ]
Gene Expression Viewer (FireBrowse)NT5C2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22978
GTEX Portal (Tissue expression)NT5C2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49902   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP49902  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP49902
Splice isoforms : SwissVarP49902
Catalytic activity : Enzyme3.1.3.5 [ Enzyme-Expasy ]   3.1.3.53.1.3.5 [ IntEnz-EBI ]   3.1.3.5 [ BRENDA ]   3.1.3.5 [ KEGG ]   
PhosPhoSitePlusP49902
Domains : Interpro (EBI)HAD-like_dom    HAD-SF_hydro_IG_5-nucl    Pur_nucleotidase   
Domain families : Pfam (Sanger)5_nucleotid (PF05761)   
Domain families : Pfam (NCBI)pfam05761   
Conserved Domain (NCBI)NT5C2
DMDM Disease mutations22978
Blocks (Seattle)NT5C2
PDB (SRS)2J2C    2JC9    2JCM    2XCV    2XCW    2XCX    2XJB    2XJC    2XJD    2XJE    2XJF    4H4B    5CQZ    5CR7    5K7Y    5L4Z    5L50   
PDB (PDBSum)2J2C    2JC9    2JCM    2XCV    2XCW    2XCX    2XJB    2XJC    2XJD    2XJE    2XJF    4H4B    5CQZ    5CR7    5K7Y    5L4Z    5L50   
PDB (IMB)2J2C    2JC9    2JCM    2XCV    2XCW    2XCX    2XJB    2XJC    2XJD    2XJE    2XJF    4H4B    5CQZ    5CR7    5K7Y    5L4Z    5L50   
PDB (RSDB)2J2C    2JC9    2JCM    2XCV    2XCW    2XCX    2XJB    2XJC    2XJD    2XJE    2XJF    4H4B    5CQZ    5CR7    5K7Y    5L4Z    5L50   
Structural Biology KnowledgeBase2J2C    2JC9    2JCM    2XCV    2XCW    2XCX    2XJB    2XJC    2XJD    2XJE    2XJF    4H4B    5CQZ    5CR7    5K7Y    5L4Z    5L50   
SCOP (Structural Classification of Proteins)2J2C    2JC9    2JCM    2XCV    2XCW    2XCX    2XJB    2XJC    2XJD    2XJE    2XJF    4H4B    5CQZ    5CR7    5K7Y    5L4Z    5L50   
CATH (Classification of proteins structures)2J2C    2JC9    2JCM    2XCV    2XCW    2XCX    2XJB    2XJC    2XJD    2XJE    2XJF    4H4B    5CQZ    5CR7    5K7Y    5L4Z    5L50   
SuperfamilyP49902
Human Protein AtlasENSG00000076685
Peptide AtlasP49902
HPRD02686
IPIIPI00029054   IPI00902778   IPI01013382   IPI00552314   IPI01021342   IPI00642843   IPI00552464   
Protein Interaction databases
DIP (DOE-UCLA)P49902
IntAct (EBI)P49902
FunCoupENSG00000076685
BioGRIDNT5C2
STRING (EMBL)NT5C2
ZODIACNT5C2
Ontologies - Pathways
QuickGOP49902
Ontology : AmiGOnucleotide binding  protein binding  cytosol  purine nucleotide catabolic process  5'-nucleotidase activity  5'-nucleotidase activity  phosphorylation  dephosphorylation  drug metabolic process  IMP metabolic process  adenosine metabolic process  metal ion binding  nucleoside phosphotransferase activity  
Ontology : EGO-EBInucleotide binding  protein binding  cytosol  purine nucleotide catabolic process  5'-nucleotidase activity  5'-nucleotidase activity  phosphorylation  dephosphorylation  drug metabolic process  IMP metabolic process  adenosine metabolic process  metal ion binding  nucleoside phosphotransferase activity  
Pathways : KEGGPurine metabolism    Pyrimidine metabolism    Nicotinate and nicotinamide metabolism   
NDEx NetworkNT5C2
Atlas of Cancer Signalling NetworkNT5C2
Wikipedia pathwaysNT5C2
Orthology - Evolution
OrthoDB22978
GeneTree (enSembl)ENSG00000076685
Phylogenetic Trees/Animal Genes : TreeFamNT5C2
HOVERGENP49902
HOGENOMP49902
Homologs : HomoloGeneNT5C2
Homology/Alignments : Family Browser (UCSC)NT5C2
Gene fusions - Rearrangements
Fusion : MitelmanNT5C2/ASAH2 [10q24.32/10q11.23]  
Fusion : MitelmanNT5C2/C10orf120 [10q24.32/10q26.13]  [t(10;10)(q24;q26)]  
Fusion: TCGANT5C2 10q24.32 C10orf120 10q26.13 BRCA
Fusion Cancer (Beijing)AD_1 [NT5C2]  -  10q24.32 [FUSC000422]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNT5C2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NT5C2
dbVarNT5C2
ClinVarNT5C2
1000_GenomesNT5C2 
Exome Variant ServerNT5C2
ExAC (Exome Aggregation Consortium)NT5C2 (select the gene name)
Genetic variants : HAPMAP22978
Genomic Variants (DGV)NT5C2 [DGVbeta]
DECIPHERNT5C2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNT5C2 
Mutations
ICGC Data PortalNT5C2 
TCGA Data PortalNT5C2 
Broad Tumor PortalNT5C2
OASIS PortalNT5C2 [ Somatic mutations - Copy number]
Cancer Gene: CensusNT5C2 
Somatic Mutations in Cancer : COSMICNT5C2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNT5C2
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 NT5C2
DgiDB (Drug Gene Interaction Database)NT5C2
DoCM (Curated mutations)NT5C2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NT5C2 (select a term)
intoGenNT5C2
Cancer3DNT5C2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600417    613162   
Orphanet21720   
MedgenNT5C2
Genetic Testing Registry NT5C2
NextProtP49902 [Medical]
TSGene22978
GENETestsNT5C2
Target ValidationNT5C2
Huge Navigator NT5C2 [HugePedia]
snp3D : Map Gene to Disease22978
BioCentury BCIQNT5C2
ClinGenNT5C2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22978
Chemical/Pharm GKB GenePA31801
Clinical trialNT5C2
Miscellaneous
canSAR (ICR)NT5C2 (select the gene name)
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNT5C2
EVEXNT5C2
GoPubMedNT5C2
iHOPNT5C2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:47:32 CEST 2017
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