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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NT5C2 Gene

protein-coding   GIFtS: 66
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)
About This Section

Aliases
5'-Nucleotidase, Cytosolic II1 2     GMP2
NT5B1 2 3 5     cN-II2
PNT52 3 5     Cytosolic Purine 5'-Nucleotidase2
5'-Nucleotidase (Purine), Cytosolic Type B1 2     IMP-Specific 5'-NT2
Purine 5' Nucleotidase1 2     NT5CP3
Cytosolic 5'-Nucleotidase II2 3     EC 3.1.38
EC 3.1.3.53 8     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 orbital cellulitis, and sphenoid sinusitis, and among its related super-pathways are Purine metabolism and NAD metabolism. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for NT5C2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm
6/12 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P49902

  • 4/21 DME Specific Peptides for NT5C2 (P49902) (see all 21)
     TVERLVS  EVGKVFL  KVDAYGN  LYIGDHIF 

    NT5C2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NT5C2 Protein Expression
    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
    Human Recombinant Protein Products for NT5C2: 
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    Novus Biologicals NT5C2 Proteins
    Novus Biologicals NT5C2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for NT5C2
    Cloud-Clone Corp. Proteins for NT5C2 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    NT5C2 for ontologies           About GeneDecksing



    NT5C2 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: 5a-nucleotidase II 
    Adenosine turnover

    3 InterPro protein domains:
     IPR008380 HAD-SF_hydro_IG_5-nucl
     IPR023214 HAD-like_dom
     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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for NT5C2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NT5C2 
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    miRNA
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    8/52 QIAGEN miScript miRNA 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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                         Customized lentivirus expression plasmids for stable overexpression of NT5C2 

    Cell Line
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    Search LifeMap BioReagents cell lines for NT5C2
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NT5C2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NT5C2 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Purine metabolism
    Purine metabolism0.38
    ATP/ITP metabolism0.31
    Pyrimidine metabolism0.38
    2NAD metabolism
    NAD metabolism0.43
    Nicotinate and nicotinamide metabolism0.43
    3Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    4purine nucleotides degradation II (aerobic)
    purine nucleotides degradation II (aerobic)0.67
    urate biosynthesis/inosine 5-phosphate degradation0.58
    adenosine nucleotides degradation II0.67
    5Purine metabolism
    Purine metabolism0.42
    Purine catabolism0.30
    Metabolism of nucleotides0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for NT5C2
        NAD metabolism
    ATP/ITP metabolism


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

    4 BioSystems Pathways for NT5C2
        adenosine nucleotides degradation II
    guanosine nucleotides degradation III
    urate biosynthesis/inosine 5-phosphate degradation
    purine nucleotides degradation II (aerobic)

    5/6        Reactome Pathways for NT5C2 (see all 6)
        Metabolism of nucleotides
    Abacavir metabolism
    Metabolism
    Purine catabolism
    Purine metabolism


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


    NT5C2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NT5C2

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

    5/121 Interacting proteins for NT5C2 (P499021, 2, 3 ENSP000003394794) via UniProtKB, MINT, STRING, and/or I2D (see all 121)
    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): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006195purine nucleotide catabolic process TAS--
    GO:0017144drug metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0055086nucleobase-containing small molecule metabolic process TAS--

    NT5C2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NT5C2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NT5C2 (5NTC)

    10/27 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)

    Search CenterWatch for drugs/clinical trials and news about NT5C2 / 5NTC

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    8/52 QIAGEN miScript miRNA Assays for microRNAs that regulate NT5C2 (see all 52):
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NT5C2
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NT5C2
      QIAGEN 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 

    24/54 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 

    24/248 AceView cDNA sequences (see all 248):

    AL706998 BX390503 BQ083645 BC001595 AW103224 BM787682 CD722008 AU123578 
    AL040624 AK127670 CD722200 AW487812 BM455161 CD171881 AW405334 CD722308 
    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NT5C2 expression in normal human tissues (normalized intensities)      NT5C2 embryonic expression: see
    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 
     5/22 selected tissues (see all 22) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
             brain/midbrain   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
             skeleton/cranium   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             bone marrow cd34+   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Eye (Sensory Organs)
             Retina

    See NT5C2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NT5C2

    SOURCE GeneReport for Unigene cluster: Hs.97439
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NT5C2 gene from 9/19 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_001164363.11  NP_001157835.11 
     468878285 
    chicken
    (Gallus gallus)
    Aves NT5C21 5'-nucleotidase, cytosolic II 83.27(n)
    95.36(a)
      423871  NM_001031234.1  NP_001026405.1 
    lizard
    (Anolis carolinensis)
    Reptilia NT5C26
    Uncharacterized protein
    90(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 59.48(n)
    62.76(a)
      32822  NM_167614.1  NP_728162.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y71H10B.1b3
    Y71H10B.11
    Protein Y71H10B.11 51(a)
    (best of 2)3
    54.11(n)1
    51.3(a)1
      X(2869916-2875584)3
    1805731  NM_076090.51  NP_508491.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G752101 HAD-superfamily hydrolase, subfamily IG, 5'-nucleotidase 47.4(n)
    37.02(a)
      843858  NM_106177.3  NP_177657.2 
    rice
    (Oryza sativa)
    Liliopsida Os03g07743001 hypothetical protein 46.6(n)
    35.71(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)
    About This Section
    Paralogs for NT5C2 gene
    NT5DC32  NT5DC12  NT5DC22  NT5DC42  
    1 SIMAP similar gene for NT5C2 using alignment to 6 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1864 SNPs in NT5C2 are shown (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

    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 600417    OMIM disorders: --

    15 diseases for NT5C2:    About MalaCards
    orbital cellulitis    sphenoid sinusitis    dental pulp necrosis    crigler-najjar syndrome
    cellulitis    sinusitis    gigantism    metabolic disorders
    myelodysplastic syndromes    acute myeloid leukemia    myeloid leukemia    hypertension
    alzheimer's disease    lung cancer    leukemia

    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)
    About This Section

    PubMed articles for NT5C2 gene, integrated from 9 sources (see all 45):
    (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. (1994)
    2. Genome-wide association study identifies five new schi zophrenia loci. (PubMed id 21926974)1, 4 (2011)
    3. Genetic variants in novel pathways influence blood pre ssure and cardiovascular disease risk. (PubMed id 21909115)1, 4  ....Johnson T. (2011)
    4. 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. (2011)
    5. Meta-analysis of genome-wide association studies iden tifies common variants associated with blood pressure variation in east Asians. (PubMed id 21572416)1, 4 Kato N....He J. (2011)
    6. Confirmation of top polymorphisms in hypertension gen ome wide association study among Han Chinese. (PubMed id 20542020)1, 4 Niu W....Zhu D. (2010)
    7. Genome-wide association study identifies eight loci associated with blood pressure. (PubMed id 19430483)1, 4 Newton-Cheh C....Munroe P.B. (2009)
    8. Crystal structure of human cytosolic 5'-nucleotidase II: insights into allosteric regulation and substrate recognition. (PubMed id 17405878)1, 2 Wallden K.... Nordlund P. (2007)
    9. 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. (2006)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 22978 HGNC: 8022 AceView: NT5C2 Ensembl:ENSG00000076685 euGenes: HUgn22978
    ECgene: NT5C2 Kegg: 22978 H-InvDB: NT5C2

    (According to HUGE)
    About This Section
      --

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



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    GeneCards Homepage - Last full update: 27 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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