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NT5C2 Gene

protein-coding   GIFtS: 67
GCID: GC10M104837

5'-Nucleotidase, Cytosolic II

(Previous names: 5'-nucleotidase (purine), cytosolic type B)
(Previous symbol: NT5B)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
5'-Nucleotidase, Cytosolic II1 2     GMP2
NT5B1 2 3 5     SPG652
PNT52 3 5     cN-II2
5'-Nucleotidase (Purine), Cytosolic Type B1 2     Cytosolic Purine 5'-Nucleotidase2
Purine 5' Nucleotidase1 2     IMP-Specific 5'-NT2
Cytosolic 5'-Nucleotidase II2 3     NT5CP3
EC 3.1.3.53 8     EC 3.1.38
SPG452 5     

External Ids:    HGNC: 80221   Entrez Gene: 229782   Ensembl: ENSG000000766857   OMIM: 6004175   UniProtKB: P499023   

Export aliases for NT5C2 gene to outside databases

Previous GC identifers: GC10M103741 GC10M104081 GC10M104979 GC10M104512 GC10M098480


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NT5C2 Gene:
This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily
on inosine 5'-monophosphate and other purine nucleotides. (provided by RefSeq, Oct 2011)

GeneCards Summary for NT5C2 Gene:
NT5C2 (5'-nucleotidase, cytosolic II) is a protein-coding gene. Diseases associated with NT5C2 include spastic paraplegia 45, autosomal recessive, and orbital cellulitis. GO annotations related to this gene include nucleoside phosphotransferase activity and nucleotide binding. An important paralog of this gene is NT5DC3.

UniProtKB/Swiss-Prot: 5NTC_HUMAN, P49902
Function: May have a critical role in the maintenance of a constant composition of intracellular purine/pyrimidine
nucleotides in cooperation with other nucleotidases. Preferentially hydrolyzes inosine 5'-monophosphate (IMP) and
other purine nucleotides




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NT5C2 gene promoter:
         Nkx3-1   Egr-3   Nkx3-1 v4   Nkx3-1 v1   Nkx3-1 v2   E2F-1   E2F   Nkx3-1 v3   MRF-2   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNT5C2 promoter sequence
   Search Chromatin IP Primers for NT5C2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NT5C2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q24.32   Ensembl cytogenetic band:  10q24.33   HGNC cytogenetic band: 10q24.32

NT5C2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NT5C2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M104837:  view genomic region     (about GC identifiers)

Start:
104,845,940 bp from pter      End:
104,953,056 bp from pter
Size:
107,117 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: 5NTC_HUMAN, P49902 (See protein sequence)
Recommended Name: Cytosolic purine 5'-nucleotidase  
Size: 561 amino acids; 64970 Da
Cofactor: Binds 1 magnesium ion per subunit
Subunit: Homotetramer
Selected PDB 3D structures from and Proteopedia for NT5C2 (see all 12):
2J2C (3D)        2JC9 (3D)        2JCM (3D)        2XCV (3D)        2XCW (3D)        2XCX (3D)    
Secondary accessions: D3DR91 Q5JUV5

Explore the universe of human proteins at neXtProt for NT5C2: NX_P49902

Explore proteomics data for NT5C2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys244, Lys254
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for NT5C2 (P49902) (see all 21)
     TVERLVS  KVDAYGN  EVGKVFL  LYIGDHIF 


    See NT5C2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001127845.1  NP_036361.1  

    ENSEMBL proteins: 
     ENSP00000383960   ENSP00000408112   ENSP00000396468   ENSP00000474091   ENSP00000411330  
     ENSP00000447664   ENSP00000474247   ENSP00000339479   ENSP00000392236  
    Reactome Protein details: P49902

    NT5C2 Human Recombinant Protein Products:

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    Novus Biologicals NT5C2 Proteins
    Novus Biologicals NT5C2 Lysates
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. CLIAs for NT5C2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: 5a-nucleotidase II
    Adenosine turnover

    3 InterPro protein domains:
     IPR023214 HAD-like_dom
     IPR008380 HAD-SF_hydro_IG_5-nucl
     IPR016695 Pur_nucleotidase

    Graphical View of Domain Structure for InterPro Entry P49902

    ProtoNet protein and cluster: P49902

    UniProtKB/Swiss-Prot: 5NTC_HUMAN, P49902
    Similarity: Belongs to the 5'(3')-deoxyribonucleotidase family


    NT5C2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 5NTC_HUMAN, P49902
    Function: May have a critical role in the maintenance of a constant composition of intracellular purine/pyrimidine
    nucleotides in cooperation with other nucleotidases. Preferentially hydrolyzes inosine 5'-monophosphate (IMP) and
    other purine nucleotides
    Catalytic activity: A 5'-ribonucleotide + H(2)O = a ribonucleoside + phosphate
    Enzyme regulation: Allosterically activated by various compounds, including ATP

         Enzyme Numbers (IUBMB): EC 3.1.3.51 2 EC 3.1.32

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0005515protein binding IPI16189514
    GO:00082535'-nucleotidase activity EXP--
    GO:0046872metal ion binding IEA--
    GO:0050146nucleoside phosphotransferase activity TAS--
         
    NT5C2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NT5C2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NT5C2

    miRNA
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    miRTarBase miRNAs that target NT5C2:
    hsa-mir-193b-3p (MIRT041471), hsa-mir-375 (MIRT020065), hsa-mir-34a-5p (MIRT025290), hsa-mir-21-5p (MIRT031022)

    Block miRNA regulation of human, mouse, rat NT5C2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NT5C2 (see all 52):
    hsa-miR-300 hsa-miR-1224-3p hsa-miR-3616-5p hsa-miR-1260b hsa-miR-578 hsa-miR-877* hsa-miR-183* hsa-miR-1184
    SwitchGear 3'UTR luciferase reporter plasmidNT5C2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat NT5C2

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): NT5C2 (NM_012229)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NT5C2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for NT5C2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NT5C2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    5NTC_HUMAN, P49902: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion2
    nucleus2
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    NT5C2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NT5C2 About    
    See pathways by source

    SuperPathContained pathways About
    1Purine metabolism (REACTOME)
    Purine metabolism0.42
    urate biosynthesis/inosine 5-phosphate degradation0.00
    Metabolism of nucleotides0.42
    guanosine nucleotides degradation0.00
    purine nucleotides degradation0.00
    adenosine nucleotides degradation0.00
    Purine catabolism0.00
    2Purine metabolism (KEGG)
    Purine metabolism0.38
    ATP ITP metabolism0.31
    Pyrimidine metabolism0.38
    3Nicotinate and nicotinamide metabolism
    Nicotinate and nicotinamide metabolism0.43
    NAD metabolism0.43
    4Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    5Abacavir transport and metabolism
    Abacavir transport and metabolism
    Abacavir metabolism0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for NT5C2
        NAD metabolism
    ATP/ITP metabolism

    4 BioSystems Pathways for NT5C2
        guanosine nucleotides degradation
    adenosine nucleotides degradation
    urate biosynthesis/inosine 5-phosphate degradation
    purine nucleotides degradation

    2 Reactome Pathways for NT5C2
        Abacavir metabolism
    Purine catabolism


    4 Kegg Pathways  (Kegg details for NT5C2):
        Purine metabolism
    Pyrimidine metabolism
    Nicotinate and nicotinamide metabolism
    Metabolic pathways


    NT5C2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NT5C2
    Interactions:

        GeneGlobe Interaction Network for NT5C2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NT5C2 (P499021, 2, 3 ENSP000003394794) via UniProtKB, MINT, STRING, and/or I2D (see all 127)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FXR2P511161, 2, 3, ENSP000002501134EBI-742084,EBI-740459 MINT-68127 I2D: score=5 STRING: ENSP00000250113
    MOB3BQ86TA11, 2, 3, ENSP000002622444EBI-742084,EBI-751703 MINT-68246 I2D: score=5 STRING: ENSP00000262244
    NME7Q9Y5B82, 3, ENSP000003567854MINT-67114 I2D: score=5 STRING: ENSP00000356785
    NUDT18Q6ZVK81, 2, 3, ENSP000003078524EBI-742084,EBI-740486 MINT-66238 I2D: score=5 STRING: ENSP00000307852
    CALM1P621583I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006195purine nucleotide catabolic process TAS--
    GO:0016310phosphorylation TAS--
    GO:0016311dephosphorylation TAS7999131
    GO:0017144drug metabolic process TAS--

    NT5C2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NT5C2 (5NTC)

    Selected HMDB Compounds for NT5C2 (see all 27)    About this table
    CompoundSynonyms CAS #PubMed Ids
    2'-Deoxyguanosine 5'-monophosphate2'-Deoxy-5'-GMP (see all 21)902-04-5--
    5-Thymidylic acid2'-Deoxythymidine 5'-monophosphate (see all 28)365-07-1--
    Adenosine1-(6-amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose (see all 32)58-61-7--
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Cytidine1-(b-D-Ribofuranosyl)-2-oxo-4-amino-1,2-dihydro-1,3-diazine (see all 20)65-46-3--
    Cytidine monophosphate5'-CMP (see all 14)63-37-6--
    Deoxyadenosine1-(6-amino-9H-purin-9-yl)-1,2-dideoxy-b-D-Ribofuranose (see all 22)958-09-8--
    Deoxyadenosine monophosphate2'-Deoxy-5'-adenylate (see all 24)653-63-4--
    Deoxycytidine1-(2-Deoxy-b-D-ribofuranosyl)cytosine (see all 15)951-77-9--
    Deoxyguanosine2'-Deoxyguanosine (see all 11)961-07-9--

    2 DrugBank Compounds for NT5C2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine triphosphate5'-ATP (see all 8)56-65-5target--17139284 17016423
    RibavirinRBV (see all 4)36791-04-5targetinducer17139284 17016423

    1 Novoseek inferred chemical compound relationship for NT5C2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inosine 69.6 4 10766785 (3), 12916861 (1)



    NT5C2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NT5C2 gene (2 alternative transcripts): 
    NM_001134373.2  NM_012229.4  

    Unigene Cluster for NT5C2:

    5'-nucleotidase, cytosolic II
    Hs.97439  [show with all ESTs]
    Unigene Representative Sequence: AK128678
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000404739(uc010qqp.2) ENST00000369857 ENST00000421281 ENST00000469228
    ENST00000452156 ENST00000461461 ENST00000458345 ENST00000470228 ENST00000552185
    ENST00000487810 ENST00000481549 ENST00000470299 ENST00000467380 ENST00000343289(uc001kwo.3 uc001kwq.3 uc001kwp.3)
    ENST00000423468

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate NT5C2 (see all 52):
    hsa-miR-300 hsa-miR-1224-3p hsa-miR-3616-5p hsa-miR-1260b hsa-miR-578 hsa-miR-877* hsa-miR-183* hsa-miR-1184
    SwitchGear 3'UTR luciferase reporter plasmidNT5C2 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat NT5C2
      QuantiFast Probe-based Assays in human, mouse, rat NT5C2

    Additional mRNA sequence: 

    AK127670.1 AK128678.1 AK291667.1 AK295593.1 AK312517.1 BC001595.1 D38524.1 U00950.1 

    Selected DOTS entries (see all 54):

    DT.86838625  DT.100644008  DT.91984393  DT.100796673  DT.121214382  DT.305903  DT.100796678  DT.121214415 
    DT.95144895  DT.121214431  DT.92441072  DT.121214428  DT.100796674  DT.121214399  DT.121214356  DT.121214396 
    DT.121214343  DT.121214346  DT.121214366  DT.121214367  DT.121214410  DT.95290181  DT.102832911  DT.121214375 

    Selected AceView cDNA sequences (see all 248):

    CD722200 AW487812 AL040624 BQ083645 AK127670 BX390503 AL706998 CD722308 
    AU123578 CD722008 BM455161 BM787682 CD171881 AW405334 AW103224 BC001595 
    BQ433533 AU123304 CA394102 BM548683 CD365818 BQ082968 BM709775 AL138044 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NT5C2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCAAATGTA
    NT5C2 Expression
    About this image


    NT5C2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Kidney (Urinary System)
             Presumptive Podocytes Podocyte Layer
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
     
     Eye (Sensory Organs)
             Lens
    NT5C2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NT5C2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.97439
        Custom PCR Arrays for NT5C2
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NT5C2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NT5C2 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nt5c21 , 5 5'-nucleotidase, cytosolic II1, 5 91.37(n)1
    99.46(a)1
      19 (38.97 cM)5
    769521  NM_001164365.11  NP_001157837.11 
     468878285 
    chicken
    (Gallus gallus)
    Aves NT5C21 5'-nucleotidase, cytosolic II 83.21(n)
    95.26(a)
      423871  NM_001031234.1  NP_001026405.1 
    lizard
    (Anolis carolinensis)
    Reptilia NT5C26
    5'-nucleotidase, cytosolic II
    91(a)
    1 ↔ 1
    3(40482360-40563518)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.99232 Xenopus laevis transcribed sequence with strong similarity more 79.34(n)    CD327072.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc45b102 Danio rerio mRNA similar to RIKEN cDNA 2010002I23 gene more 78.29(n)    BC049497.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG325491 CG32549 58.53(n)
    61.37(a)
      32822  NM_167614.1  NP_728162.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y71H10B.1b3
    Y71H10B.11
    Y71H10B.11 51(a)
    (best of 2)3
    55.22(n)1
    52.74(a)1
      X(2869916-2875584)3
    1805731  NM_076090.61  NP_508491.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G752101 AT1G75210 47.81(n)
    37.78(a)
      843858  NM_106177.3  NP_177657.2 
    rice
    (Oryza sativa)
    Liliopsida Os03g07743001 Os03g0774300 46.64(n)
    37.54(a)
      4334277  NM_001057956.2  NP_001051421.2 


    ENSEMBL Gene Tree for NT5C2 (if available)
    TreeFam Gene Tree for NT5C2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NT5C2 gene
    NT5DC32  NT5DC12  NT5DC22  NT5DC42  
    1 SIMAP similar gene for NT5C2 using alignment to 8 protein entries:     5NTC_HUMAN (see all proteins):
    NT5DC4

    NT5C2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NT5C2
    PGOHUM00000240867


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NT5C2 (see all 1864)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1413459331,2
    C--104847345(+) TAAATA/GTACTA 2 -- int10--------
    rs1469722601,2
    --104847422(+) AGACTA/CTGTTA 2 -- int10--------
    rs1380131211,2
    --104847641(+) GAGACA/GGACAG 2 -- int10--------
    rs1420586931,2
    C--104847713(+) CTCACC/TTCACA 2 -- int10--------
    rs1816363651,2
    C--104847742(+) TTCTGC/TGAAAA 2 -- int10--------
    rs1847698441,2
    --104847764(+) ATGTAA/GCACCA 2 -- int10--------
    rs1430483911,2
    C--104847885(+) CAGTTG/TTACTA 2 -- ut310--------
    rs1880004341,2
    C--104847965(+) CCCTAC/TTGACC 2 -- ut310--------
    rs81391,2
    C,F,A,H--104848123(-) ATCACC/TTCTTG 2 -- ut3126Minor allele frequency- T:0.40MN NS EA NA CSA WA 2674
    rs1420232351,2
    C--104848259(+) GCCTCA/GGCCTC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for NT5C2 (104845940 - 104953056 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NT5C2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv7528CNV Loss18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NT5C2
    DNA2.0 Custom Variant and Variant Library Synthesis for NT5C2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600417   
    OMIM disorders: 613162  
    Selected diseases for NT5C2 (see all 21):    
    About MalaCards
    spastic paraplegia 45, autosomal recessive    orbital cellulitis    sphenoid sinusitis    dental pulp necrosis
    crigler-najjar syndrome    cellulitis    gigantism    sinusitis
    myelodysplastic syndromes    acute myeloid leukemia    coronary artery disease    myeloid leukemia
    bipolar disorder    lymphoblastic leukemia    hypertension    alzheimer's disease
    schizophrenia    leukemia    lung cancer    malaria

    2 diseases from the University of Copenhagen DISEASES database for NT5C2:
    Sphenoid sinusitis     Orbital cellulitis

    NT5C2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): NT5C2
    Human Genome Epidemiology (HuGE) Navigator: NT5C2 (4 documents)

    Export disorders for NT5C2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NT5C2 gene, integrated from 10 sources (see all 49):
    (articles sorted by number of sources associating them with NT5C2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of human cytosolic purine 5'-nucleotidase. (PubMed id 7999131)1, 2, 3 Oka J.... Inoue S. (Biochem. Biophys. Res. Commun. 1994)
    2. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PubMed id 24482476)1, 3 Novarino G....Gleeson J.G. (Science 2014)
    3. Genome-wide association study identifies five new schizophrenia loci. (PubMed id 21926974)1, 4 (Nat. Genet. 2011)
    4. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. (PubMed id 21909115)1, 4  ....Johnson T. (Nature 2011)
    5. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. (PubMed id 21909110)1, 4 Wain L.V....van Duijn C.M. (Nat. Genet. 2011)
    6. Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. (PubMed id 21572416)1, 4 Kato N....He J. (Nat. Genet. 2011)
    7. Confirmation of top polymorphisms in hypertension genome wide association study among Han Chinese. (PubMed id 20542020)1, 4 Niu W....Zhu D. ( international journal of clinical chemistry 2010)
    8. Genome-wide association study identifies eight loci associated with blood pressure. (PubMed id 19430483)1, 4 Newton-Cheh C....Munroe P.B. (Nat. Genet. 2009)
    9. Crystal structure of human cytosolic 5'-nucleotidase II: insights into allosteric regulation and substrate recognition. (PubMed id 17405878)1, 2 Wallden K.... Nordlund P. (J. Biol. Chem. 2007)
    10. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 22978 HGNC: 8022 AceView: NT5C2 Ensembl:ENSG00000076685 euGenes: HUgn22978
    ECgene: NT5C2 Kegg: 22978 H-InvDB: NT5C2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for NT5C2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for NT5C2 gene:
    Search GeneIP for patents involving NT5C2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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