Atlas of Genetics and Cytogenetics in Oncology and Haematology

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NT5C2 (5'-nucleotidase, cytosolic II)

Identity

Alias_namesNT5B
SPG45
5'-nucleotidase (purine), cytosolic type B
spastic paraplegia 45 (autosomal recessive)
Alias_symbol (synonym)PNT5
GMP
cN-II
SPG65
Other alias
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 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]

Solid Tumors TT_del10q24ID100005 TT_t1010q24q26ID100273

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]  ENSG00000076685 [Sequence]  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)
GoldenPathNT5C2 - 10q24.32 [CytoView hg19]  NT5C2 - 10q24.32 [CytoView hg38]
ImmunoBaseENSG00000076685
Mapping of homologs : NCBINT5C2 [Mapview hg19]  NT5C2 [Mapview hg38]
OMIM600417   613162   
Gene and transcription
Genbank (Entrez)AK127670 AK291667 AK295593 AK312517 AL040624
RefSeq transcript (Entrez)NM_001134373 NM_001351169 NM_001351170 NM_001351171 NM_001351172 NM_001351173 NM_001351174 NM_001351175 NM_001351176 NM_001351177 NM_001351178 NM_001351179 NM_001351180 NM_001351181 NM_001351182 NM_001351183 NM_001351184 NM_001351185 NM_001351186 NM_001351187 NM_001351188 NM_001351189 NM_001351190 NM_001351191 NM_001351192 NM_001351193 NM_001351194 NM_001351195 NM_001351196 NM_001351197 NM_012229
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NT5C2
Cluster EST : UnigeneHs.734531 [ NCBI ]
CGAP (NCI)Hs.734531
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]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22978
GTEX Portal (Tissue expression)NT5C2
Human Protein AtlasENSG00000076685-NT5C2 [pathology]   [cell]   [tissue]
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_sf    HAD-SF_hydro_IG_5-nucl    HAD_sf    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 (RSDB)2J2C    2JC9    2JCM    2XCV    2XCW    2XCX    2XJB    2XJC    2XJD    2XJE    2XJF    4H4B    5CQZ    5CR7    5K7Y    5L4Z    5L50   
PDB Europe2J2C    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   
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 Atlas [tissue]ENSG00000076685-NT5C2 [tissue]
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  dephosphorylation  drug metabolic process  IMP metabolic process  adenosine metabolic process  metal ion binding  
Ontology : EGO-EBInucleotide binding  protein binding  cytosol  purine nucleotide catabolic process  5'-nucleotidase activity  dephosphorylation  drug metabolic process  IMP metabolic process  adenosine metabolic process  metal ion binding  
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
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 PortalNT5C2 10q24.32 C10orf120 10q26.13 BRCA
Fusion Cancer (Beijing)AD_1 [NT5C2]  -  10q24.32 [FUSC000422]
Fusion : QuiverNT5C2
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)ENSG00000076685
GNOMAD BrowserENSG00000076685
Varsome BrowserNT5C2
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]
Somatic Mutations in Cancer : COSMICNT5C2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNT5C2
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600417    613162   
Orphanet21720   
DisGeNETNT5C2
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)
DataMed IndexNT5C2
Probes
Litterature
PubMed68 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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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Jan 27 14:57:22 CET 2020
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