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

CNP Gene

protein-coding   GIFtS: 62
GCID: GC17P040118

2',3'-Cyclic Nucleotide 3' Phosphodiesterase

Alzheimer's & Parkinson's Diseases Congress
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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
2',3'-Cyclic Nucleotide 3' Phosphodiesterase1 2
CNPase2 3
EC 3.1.4.373 8
CNP12 5
2', 3' Cyclic Nucleotide 3' Phosphohydrolase2
2',3'-Cyclic-Nucleotide 3'-Phosphodiesterase2

External Ids:    HGNC: 21581   Entrez Gene: 12672   Ensembl: ENSG000001737867   OMIM: 1238305   UniProtKB: P095433   

Export aliases for CNP gene to outside databases

Previous GC identifers: GC17P039672 GC17P042274 GC17P040027 GC17P040491 GC17P037372 GC17P035884


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

GeneCards Summary for CNP Gene: 
CNP (2',3'-cyclic nucleotide 3' phosphodiesterase) is a protein-coding gene. Diseases associated with CNP include interstitial emphysema, and hair disease. GO annotations related to this gene include RNA binding and 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity.

UniProtKB/Swiss-Prot: CN37_HUMAN, P09543
Function: May participate in RNA metabolism in the myelinating cell, CNP is the third most abundant protein in
central nervous system myelin (By similarity)

Gene Wiki entry for CNP (2',3'-Cyclic-nucleotide 3'-phosphodiesterase) Gene


(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_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CNP gene promoter:
         C/EBPbeta   Tal-1   p53   MyoD   LUN-1   HNF-4alpha2   HNF-4alpha1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCNP promoter sequence
   Search SABiosciences Chromatin IP Primers for CNP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CNP


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

Entrez Gene cytogenetic band: 17q21   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q21

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P040118:  view genomic region     (about GC identifiers)

Start:
40,118,759 bp from pter      End:
40,129,754 bp from pter
Size:
10,996 bases      Orientation:
plus strand

1 alternative location:
Chr17+,NW_003571052 253,383-264,378     

(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: CN37_HUMAN, P09543 (See protein sequence)
Recommended Name: 2',3'-cyclic-nucleotide 3'-phosphodiesterase precursor  
Size: 421 amino acids; 47579 Da
Subunit: Exists as monomers and homodimers (By similarity)
Subcellular location: Membrane; Lipid-anchor. Melanosome. Note=Firmly bound to membrane structures of brain white
matter. Identified by mass spectrometry in melanosome fractions from stage I to stage IV
1 PDB 3D structure from and Proteopedia for CNP:
1WOJ (3D)    
Alternative splicing: 2 isoforms:  P09543-1   P09543-2   

Explore the universe of human proteins at neXtProt for CNP: NX_P09543

Explore proteomics data for CNP at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P09543

  • 4/7 DME Specific Peptides for CNP (P09543) (see all 7)
     GEEVGEL  RGKLYSLG  GAEEYAQQ  RKSHTFLPK 

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

    CNP Protein Expression
    REFSEQ proteins: NP_149124.3  
    ENSEMBL proteins: 
     ENSP00000377470   ENSP00000467641   ENSP00000468198   ENSP00000377466   ENSP00000413104  
     ENSP00000466807   ENSP00000468471   ENSP00000465758  

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

    Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA12379507
    GO:0005737cytoplasm IDA12379507
    GO:0005741mitochondrial outer membrane IEA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005874microtubule IDA--

    CNP for ontologies           About GeneDecksing



    CNP Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for CNP 

    Assay Products for CNP: 
    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CNP 
    Cloud-Clone Corp. CLIAs for CNP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR027417 P-loop_NTPase
     IPR009097 RNA_ligase/cNuc_Pdiesterase
     IPR008431 CNPase

    Graphical View of Domain Structure for InterPro Entry P09543

    ProtoNet protein and cluster: P09543

    1 Blocks protein domain: IPB008431 Cyclic nucleotide phosphodiesterase

    UniProtKB/Swiss-Prot: CN37_HUMAN, P09543
    Similarity: Belongs to the cyclic nucleotide phosphodiesterase family


    CNP 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: CN37_HUMAN, P09543
    Function: May participate in RNA metabolism in the myelinating cell, CNP is the third most abundant protein in
    central nervous system myelin (By similarity)
    Catalytic activity: Nucleoside 2',3'-cyclic phosphate + H(2)O = nucleoside 2'-phosphate

         Genatlas biochemistry entry for CNP:
    2',3' cyclic nucleotide 3'phosphohydrolase,myelin associated,marker of oligodendrocytes and Schwann cells

         Enzyme Number (IUBMB): EC 3.1.4.371 2

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0003824catalytic activity ----
    GO:00041132',3'-cyclic-nucleotide 3'-phosphodiesterase activity IEA--
    GO:0005524ATP binding ----
    GO:0016301kinase activity ----
         
    CNP for ontologies           About GeneDecksing


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cnp):
     behavior/neurological  digestive/alimentary  endocrine/exocrine gland  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  mortality/aging  muscle  nervous system 
     reproductive system  respiratory system  skeleton  vision/eye 

    CNP for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CNP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CNP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CNP 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CNP 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CNP
    8/68 QIAGEN miScript miRNA Assays for microRNAs that regulate CNP (see all 68):
    hsa-miR-1321 hsa-miR-642a hsa-miR-1224-3p hsa-miR-1245 hsa-miR-200a hsa-miR-550a* hsa-miR-3612 hsa-miR-877
    SwitchGear 3'UTR luciferase reporter plasmidCNP 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Sino Biological Human cDNA Clone for CNP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CNP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CNP
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                         Customized lentivirus expression plasmids for stable overexpression of CNP 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNP


    (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 CNP About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Selected targets of ESR1
    Selected targets of ESR1
    2Neuroscience
    Neuroscience
    3Glial Cell Differentiation
    Glial Cell Differentiation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CNP
        Selected targets of ESR1


    1 Cell Signaling Technology (CST) Pathway for CNP
        Neuroscience

    1 BioSystems Pathway for CNP
        Glial Cell Differentiation




    CNP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CNP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/14 Interacting proteins for CNP (P095433 ENSP000003774704) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKCDQ056553, ENSP000003316024I2D: score=2 STRING: ENSP00000331602
    TUBA1AQ71U363, ENSP000003010714I2D: score=2 STRING: ENSP00000301071
    MTNR1AP480393, ENSP000003028114I2D: score=2 STRING: ENSP00000302811
    PTK2Q053973I2D: score=2 
    DDA1Q9BW613I2D: score=1 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization IEA--
    GO:0007268synaptic transmission TAS1322358
    GO:0007409axonogenesis IEA--
    GO:0007568aging IEA--
    GO:0008344adult locomotory behavior IEA--

    CNP 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

    CNP for compounds           About GeneDecksing

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

    Browse Tocris compounds for CNP (CN37)

    10 HMDB Compounds for CNP    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine 2',3'-cyclic phosphatecyclic 2',3'-(hydrogen phosphate)-Adenosine (see all 6)634-01-5--
    Adenosine 2'-phosphate2'-Adenylic acid (see all 3)130-49-4--
    Cytidine 2',3'-cyclic phosphateCyclic(2',3')-CMP (see all 4)15718-51-1--
    Cytidine 2'-phosphate2'-Cytidylic acid (see all 3)85-94-9--
    Guanosine 2',3'-cyclic phosphatecyclic 2',3'-(hydrogen phosphate)-Guanosine (see all 4)15718-49-7--
    Inosine 2',3'-cyclic phosphate2',3' cyclic IMP (see all 5)15569-30-9--
    Inosine 2'-phosphate2'-IMP (see all 3)----
    Uridine 2',3'-cyclic phosphate1-(2,3-O-phosphinico-a-D-ribofuranosyl)-2,4(1H,3H)-Pyrimidinedione (see all 4)40632-52-8--
    Uridine 2'-phosphate2'-Uridylic acid (see all 7)131-83-9--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    8 Novoseek inferred chemical compound relationships for CNP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    2',3'-cyclic nucleotide 97.7 69 12225906 (2), 12898532 (2), 8011177 (2), 11377758 (2) (see all 58)
    phosphoserine 32.7 1 2166508 (1)
    bromodeoxyuridine 14 2 14625143 (1), 16447750 (1)
    forskolin 11.6 1 2166508 (1)
    adenylate 5.05 1 17522440 (1)
    sucrose 0.637 1 2161932 (1)
    lipid 0 3 10739571 (1), 16480884 (1), 17266109 (1)
    glutamate 0 1 17266109 (1)

    Search CenterWatch for drugs/clinical trials and news about CNP / CN37

    (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 CNP gene: 
    NM_033133.4  

    Unigene Cluster for CNP:

    2',3'-cyclic nucleotide 3' phosphodiesterase
    Hs.273621  [show with all ESTs]
    Unigene Representative Sequence: NM_033133
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000393892(uc002hyl.1 uc010wfz.1 uc002hym.1 uc010wga.1)
    ENST00000472031 ENST00000591945 ENST00000592446 ENST00000587679 ENST00000393888
    ENST00000441615 ENST00000589772 ENST00000585452 ENST00000592861 ENST00000592105
    ENST00000486438 ENST00000591072

    miRNA
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    8/68 QIAGEN miScript miRNA Assays for microRNAs that regulate CNP (see all 68):
    hsa-miR-1321 hsa-miR-642a hsa-miR-1224-3p hsa-miR-1245 hsa-miR-200a hsa-miR-550a* hsa-miR-3612 hsa-miR-877
    SwitchGear 3'UTR luciferase reporter plasmidCNP 3' UTR sequence
    Inhib. RNA
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    Clone
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CNP

    Additional mRNA sequence: 

    AK026876.1 AK097833.1 AK098048.1 AK098384.1 AK124861.1 AK294179.1 AK295351.1 AK296534.1 
    AK308696.1 BC001362.2 BC006392.2 BC011046.1 BC028040.1 BC045561.1 BC148241.1 M19650.1 

    24/54 DOTS entries (see all 54):

    DT.86999870  DT.40106794  DT.100893655  DT.95292383  DT.120967548  DT.91763414  DT.452725  DT.100696462 
    DT.120967521  DT.100893670  DT.120967368  DT.100893673  DT.120967541  DT.91763423  DT.91763422  DT.120967394 
    DT.92417479  DT.416333  DT.95375421  DT.105058  DT.92035891  DT.100683725  DT.100893664  DT.120967432 

    24/558 AceView cDNA sequences (see all 558):

    CA309440 BQ647354 BU157398 BU622829 BQ679138 BP350105 M61958 BQ218847 
    BC001362 BQ948228 BE884554 CR610695 CA448084 CB153604 BM928355 BE251393 
    BM449647 F00482 BQ683744 BM462553 CD671725 AI141188 CB988051 CR607967 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for CNP (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d
    SP1:                                -     -     -     -                                         -     -     -                                 
    SP2:                                -     -     -     -                                         -     -     -                                 
    SP3:                                -     -     -     -     -     -     -     -     -     -     -     -     -                                 
    SP4:                                -     -           -                                                                                       
    SP5:                                                                                                        -                                 


    ECgene alternative splicing isoforms for CNP

    (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

    CNP expression in normal human tissues (normalized intensities)      CNP embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAATCCTAA
    CNP Expression
    About this image


    CNP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 12 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Thalamus
             Caudate nucleus   
     
     Spinal Cord (Nervous System)
             Myelinating Oligodendrocyte Cells Spinal Cord White Matter
     
     Colon (Gastrointestinal Tract)
             colon ; peripheral nerve/ganglion   
     
     Peripheral Nervous System (Nervous System)
             colon ; peripheral nerve/ganglion   
     
     Bone (Muscoskeletal System)
             Bone marrow-derived mesenchymal stem cells

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

    SOURCE GeneReport for Unigene cluster: Hs.273621
        SABiosciences Custom PCR Arrays for CNP
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNP

    (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 chordates.

    Orthologs for CNP gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cnp1 , 5 2',3'-cyclic nucleotide 3' phosphodiesterase1, 5 85.63(n)1
    85(a)1
      11 (63.47 cM)5
    127991  NM_009923.21  NP_034053.21 
     1005749045 
    chicken
    (Gallus gallus)
    Aves CNP1 2',3'-cyclic nucleotide 3' phosphodiesterase 69.22(n)
    67.87(a)
      395921  NM_205050.1  NP_990381.1 
    lizard
    (Anolis carolinensis)
    Reptilia CNP6
    Uncharacterized protein
    64(a)
    1 ↔ 1
    6(66410377-66419733)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.88852 Xenopus laevis transcribed sequence with weak similarity more 74.75(n)    BX843487.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cnp6
    cnp6
    2',3'-cyclic nucleotide 3' phosphodiesterase
    31(a)
    30(a)
    many → 1
    many → 1
    3(17662020-17673215)
    3(17376816-17381225)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/218 SNPs in CNP are shown (see all 218)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1135830761,2
    C,F--40116786(+) CCTCCG/AGGTAG 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1881844691,2
    --40116887(+) AACTCC/TTGGCC 1 -- us2k10--------
    rs1167640891,2
    C,F--40116971(+) TGAACA/TAACTT 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1918416431,2
    C--40117241(+) TGTCAA/GGAGAA 1 -- us2k10--------
    rs1885950901,2
    --40117329(+) GCCTTC/TGGGAG 1 -- us2k10--------
    rs1492140741,2
    --40117654(+) GGTGTA/CTTTCA 1 -- us2k10--------
    rs1434076231,2
    --40117940(+) AGGTAA/GGAGAA 1 -- us2k10--------
    rs1821852831,2
    --40118328(+) TGAGAA/CTGACT 1 -- us2k10--------
    rs1867134741,2
    --40118525(+) GACCCA/TGCCTC 1 -- us2k10--------
    rs129529151,2
    C,F--40118552(+) TCCACG/AGGACC 1 -- us2k17Minor allele frequency- A:0.17NA WA EA 366

    HapMap Linkage Disequilibrium report for CNP (40118759 - 40129754 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CNP:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv509658CNV Insertion20534489
    nsv2056CNV Insertion18451855
    nsv908239CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 123830    OMIM disorders: --

    20/29 diseases for CNP (see all 29):    About MalaCards
    interstitial emphysema    hair disease    beta-mannosidosis    acid sphingomyelinase deficiency
    spinal cord injury    hyperphenylalaninemia    neurofibroma    optic neuritis
    pelizaeus-merzbacher disease    neuritis    status epilepticus    niemann-pick disease
    pick's disease    cerebral palsy    hypothyroidism    temporal lobe epilepsy
    oligodendroglioma    multiple sclerosis    schizophrenia    encephalomyelitis

    2 diseases from the University of Copenhagen DISEASES database for CNP:
    Multiple sclerosis     beta-mannosidosis

    CNP for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    8 Novoseek inferred disease relationships for CNP gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    demyelination 62.4 3 15378614 (1), 17618276 (1), 2175632 (1)
    multiple sclerosis 55.8 1 12225906 (1)
    schizophrenia 36.1 23 19348671 (4), 18496213 (3), 17306456 (3), 17964117 (3) (see all 6)
    neurofibroma 26.5 1 16651634 (1)
    glioma 12.6 3 1329795 (1), 7877717 (1), 11453663 (1)
    hypothyroidism 0.0296 2 11592121 (2)
    necrosis 0 1 16109311 (1)
    tumors 0 2 9272635 (1), 16109311 (1)

    Genetic Association Database (GAD): CNP
    Human Genome Epidemiology (HuGE) Navigator: CNP (19 documents)

    Export disorders for CNP 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 CNP gene, integrated from 9 sources (see all 185):
    (articles sorted by number of sources associating them with CNP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. No relationship between 2',3'-cyclic nucleotide 3'-phosphodiesterase and schizophrenia in the Chinese Han population: an expression study and meta-analysis. (PubMed id 19348671)1, 4, 9 Che R....Shi Y. (2009)
    2. Case-control association study of the 2',3'-cyclic nucleotide 3'-phosphodiesterase (CNP) gene and schizophrenia in the Han Chinese population. (PubMed id 17306456)1, 4, 9 Tang F....Zhang D. (2007)
    3. The epitope recognized by a monoclonal antibody in the myelin- associated protein CNP. (PubMed id 9268698)1, 2, 9 Stricker R.... Reiser G. (1997)
    4. Crystal structure of the catalytic fragment of human brain 2',3'- cyclic-nucleotide 3'-phosphodiesterase. (PubMed id 15713463)1, 2, 9 Sakamoto Y.... Nakamura K.T. (2005)
    5. A family-based association study of the myelin-associated glycoprotein and 2',3'-cyclic nucleotide 3'-phosphodiesterase genes with schizophrenia. (PubMed id 18496213)1, 4, 9 Voineskos A.N....Kennedy J.L. (2008)
    6. The 2',3'-cyclic nucleotide 3'-phosphodiesterase and oligodendrocyte lineage transcription factor 2 genes do not appear to be associated with schizophrenia in the Japanese population. (PubMed id 17010574)1, 4, 9 Usui H....Ozaki N. (2006)
    7. Assignment of the human 2',3'-cyclic nucleotide 3'-phosphohydrolase gene to chromosome 17. (PubMed id 1322358)1, 3, 9 Sprinkle T.J....Lapp D.F. (1992)
    8. Structure and chromosomal localization of the human 2',3'-cyclic nucleotide 3'-phosphodiesterase gene. (PubMed id 1360194)1, 2, 9 Douglas A.J....Thompson R.J. (1992)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 1267 HGNC: 2158 AceView: CNP Ensembl:ENSG00000173786 euGenes: HUgn1267
    ECgene: CNP H-InvDB: CNP

    (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 CNP 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 CNP gene:
    Search GeneIP for patents involving CNP

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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

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