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CNBP Gene

protein-coding   GIFtS: 56
GCID: GC03M128886

CCHC-Type Zinc Finger, Nucleic Acid Binding Protein

(Previous names: zinc finger protein 9 (a cellular retroviral nucleic acid...)
(Previous symbols: DM2, ZNF9)
  See related diseases
at  

(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
CCHC-Type Zinc Finger, Nucleic Acid Binding Protein1 2     PROMM2 5
ZNF91 2 3 5     ZCCHC222
DM21 2 5     Cellular Nucleic Acid Binding Protein2
Zinc Finger Protein 9 (A Cellular Retroviral Nucleic Acid Binding Protein)1 2     Cellular Nucleic Acid-Binding Protein2
Zinc Finger Protein 91 3     Erythroid Differentiation-Related2
RNF1632 3     Sterol Regulatory Element-Binding Protein2
CNBP12 5     Zinc Finger Protein 2732

External Ids:    HGNC: 131641   Entrez Gene: 75552   Ensembl: ENSG000001697147   OMIM: 1169555   UniProtKB: P626333   

Export aliases for CNBP gene to outside databases

Previous GC identifers: GC03M130372 GC03M126273


(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 CNBP Gene:
This gene encodes a nucleic-acid binding protein with seven zinc-finger domains. The protein has a preference for
binding single stranded DNA and RNA. The protein functions in cap-independent translation of ornithine
decarboxylase mRNA, and may also function in sterol-mediated transcriptional regulation. A CCTG expansion in the
first intron of this gene results in myotonic dystrophy type 2. Multiple transcript variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for CNBP Gene:
CNBP (CCHC-type zinc finger, nucleic acid binding protein) is a protein-coding gene. Diseases associated with CNBP include prostatic cyst, and myotonic dystrophy type 2. GO annotations related to this gene include single-stranded RNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ZCCHC13.

UniProtKB/Swiss-Prot: CNBP_HUMAN, P62633
Function: Single-stranded DNA-binding protein, with specificity to the sterol regulatory element (SRE). Involved
in sterol-mediated repression

Gene Wiki entry for CNBP 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the CNBP gene promoter:
         USF1   RREB-1   NF-AT   CREB   NF-AT4   Ik-2   NF-AT2   USF-1   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCNBP promoter sequence
   Search Chromatin IP Primers for CNBP

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


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

Entrez Gene cytogenetic band: 3q21   Ensembl cytogenetic band:  3q21.3   HGNC cytogenetic band: 3q21

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M128886:  view genomic region     (about GC identifiers)

Start:
128,886,658 bp from pter      End:
128,902,810 bp from pter
Size:
16,153 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CNBP_HUMAN, P62633 (See protein sequence)
Recommended Name: Cellular nucleic acid-binding protein  
Size: 177 amino acids; 19463 Da
Secondary accessions: A8K7V4 B2RAV9 D3DNB9 D3DNC0 D3DNC1 E9PDR7 P20694 Q4JGY0 Q5QJR0 Q5U0E9
Q6PJI7 Q96NV3
Alternative splicing: 6 isoforms:  P62633-1   P62633-2   P62633-3   P62633-4   P62633-5   P62633-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CNBP: NX_P62633

Explore proteomics data for CNBP at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys8, Lys103, Lys130, Lys152
  • Modification sites at PhosphoSitePlus

  • See CNBP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001120664.1  NP_001120665.1  NP_001120666.1  NP_001120667.1  NP_001120668.1  NP_003409.1  

    ENSEMBL proteins: 
     ENSP00000421323   ENSP00000410619   ENSP00000399488   ENSP00000400444   ENSP00000426223  
     ENSP00000422110   ENSP00000410769   ENSP00000424787  

    CNBP Human Recombinant Protein Products:

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    Novus Biologicals CNBP Proteins
    Novus Biologicals CNBP Lysates
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    ProSpec Recombinant Protein for CNBP
    Cloud-Clone Corp. Proteins for CNBP

    CNBP Antibody Products:

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    CNBP Assay Products:

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    Cloud-Clone Corp. CLIAs for CNBP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZCCHC: Zinc fingers, CCHC domain containing
    RNF: RING-type (C3HC4) zinc fingers

    1 InterPro protein domain:
     IPR001878 Znf_CCHC

    Graphical View of Domain Structure for InterPro Entry P62633

    ProtoNet protein and cluster: P62633

    UniProtKB/Swiss-Prot: CNBP_HUMAN, P62633
    Similarity: Contains 7 CCHC-type zinc fingers


    CNBP 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: CNBP_HUMAN, P62633
    Function: Single-stranded DNA-binding protein, with specificity to the sterol regulatory element (SRE). Involved
    in sterol-mediated repression

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003697single-stranded DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity TAS2562787
    GO:0003727single-stranded RNA binding IEA--
    GO:0008270zinc ion binding IEA--
         
    CNBP for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cnbp):
     cellular  craniofacial  embryogenesis  growth/size/body  mortality/aging 
     nervous system  skeleton  vision/eye 

    CNBP for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CNBP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CNBP

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target CNBP:
    hsa-mir-186-5p (MIRT044933), hsa-let-7a-5p (MIRT052598), hsa-let-7e-5p (MIRT051588), hsa-mir-26a-5p (MIRT050198), hsa-mir-877-3p (MIRT036825)

    Block miRNA regulation of human, mouse, rat CNBP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CNBP (see all 102):
    hsa-miR-124* hsa-miR-323-3p hsa-miR-193a-3p hsa-miR-300 hsa-miR-3146 hsa-miR-376b hsa-miR-138-2* hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidCNBP 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CNBP
    Predesigned siRNA for gene silencing in human, mouse, rat CNBP

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for CNBP (see all 31)
    OriGene ORF clones in mouse, rat for CNBP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): CNBP (NM_003418)
    Sino Biological Human cDNA Clone for CNBP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CNBP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CNBP

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNBP


    (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
    CNBP_HUMAN, P62633: Cytoplasm (By similarity). Endoplasmic reticulum (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    endoplasmic reticulum4
    nucleus4
    extracellular2
    cytoskeleton1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634NOT nucleus ISS--
    GO:0005783endoplasmic reticulum ISS--
    GO:0005829cytosol ISS--

    CNBP 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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        Pathway & Disease-focused RT2 Profiler PCR Arrays including CNBP: 
              Insulin Resistance in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Fatty Liver in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CNBP

    Selected Interacting proteins for CNBP (P626333) via UniProtKB, MINT, STRING, and/or I2D (see all 481)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated TAS2562787
    GO:0006695cholesterol biosynthetic process TAS2562787
    GO:0008284positive regulation of cell proliferation ISS--
    GO:0045893positive regulation of transcription, DNA-templated ISS--

    CNBP 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 CNBP

    8 Novoseek inferred chemical compound relationships for CNBP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 62.8 52 2253775 (2), 1515675 (1), 7531280 (1), 16265841 (1) (see all 34)
    poly c 36.8 1 7607214 (1)
    sterol 23 5 10617772 (1), 1718676 (1), 7721877 (1)
    arginine 17.9 6 15364944 (1), 17166179 (1), 19365714 (1), 12678849 (1) (see all 5)
    phenol 7.4 1 1837060 (1)
    agarose 3.4 2 18925718 (1), 12398195 (1)
    cholesterol 0 4 10617772 (1), 7896846 (1), 2253775 (1)
    atp 0 1 7574500 (1)



    CNBP 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,
    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 CNBP gene (6 alternative transcripts): 
    NM_001127192.1  NM_001127193.1  NM_001127194.1  NM_001127195.1  NM_001127196.1  NM_003418.4  

    Unigene Cluster for CNBP:

    CCHC-type zinc finger, nucleic acid binding protein
    Hs.518249  [show with all ESTs]
    Unigene Representative Sequence: NM_001127192
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000502976 ENST00000422453(uc003elr.4 uc003elq.4 uc021xdv.1 uc021xdw.1 uc011bku.2)
    ENST00000451728(uc021xdu.1) ENST00000446936(uc021xdt.1) ENST00000500450
    ENST00000504813 ENST00000441626 ENST00000502372 ENST00000512338 ENST00000507573

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CNBP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CNBP (see all 102):
    hsa-miR-124* hsa-miR-323-3p hsa-miR-193a-3p hsa-miR-300 hsa-miR-3146 hsa-miR-376b hsa-miR-138-2* hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidCNBP 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CNBP
    Predesigned siRNA for gene silencing in human, mouse, rat CNBP
    Clone
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    OriGene clones in human, mouse for CNBP (see all 31)
    OriGene ORF clones in mouse, rat for CNBP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): CNBP (NM_003418)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CNBP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CNBP
    Primer
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    OriGene qPCR primer pairs and template standards for CNBP
    OriGene qSTAR qPCR primer pairs in human, mouse for CNBP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CNBP
      QuantiTect SYBR Green Assays in human, mouse, rat CNBP
      QuantiFast Probe-based Assays in human, mouse, rat CNBP

    Additional mRNA sequence: 

    AK021693.1 AK054592.1 AK292119.1 AK298154.1 AK314380.1 AY436367.1 BC000288.2 BC014911.1 
    BC093058.1 BT019613.1 DQ091187.1 DQ092366.1 DQ092367.1 M28372.1 

    Selected DOTS entries (see all 51):

    DT.100879373  DT.100879362  DT.101959009  DT.100830932  DT.100879387  DT.100879388  DT.92465693  DT.100879357 
    DT.100879366  DT.100879386  DT.100879389  DT.100879365  DT.91983551  DT.100758237  DT.97866200  DT.92465710 
    DT.100838677  DT.407425  DT.120857803  DT.100879383  DT.120857562  DT.100879374  DT.120857725  DT.120857754 

    Selected AceView cDNA sequences (see all 1000):

    CR615983 BQ219749 AI682386 BU902517 CR599232 CB215312 BM662151 AW162036 
    CR616385 BC014911 CR608484 BM781496 CR602369 CR608775 BM460631 BU630334 
    AI952921 BU173733 AI886373 CD365552 BM541323 AI679309 AK054592 BQ670299 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CNBP (see all 17)    About this scheme

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

    ExUns: 7h · 7i
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for CNBP

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


    CNBP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Intermediate Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Mesonephric cells Mesonephros
             Mesonephros
     
     Kidney (Urinary System)
             Metanephros
     
     Gonad
             Mesonephric cells Mesonephros
    CNBP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CNBP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.518249

    UniProtKB/Swiss-Prot: CNBP_HUMAN, P62633
    Tissue specificity: Present in all tissues examined

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CNBP: 
              Insulin Resistance in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Fatty Liver in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CNBP
    OriGene qSTAR qPCR primer pairs in human, mouse for CNBP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CNBP
    QuantiTect SYBR Green Assays in human, mouse, rat CNBP
    QuantiFast Probe-based Assays in human, mouse, rat CNBP
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNBP

    (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 animals and fungi.

    Orthologs for CNBP gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cnbp1 , 5 cellular nucleic acid binding protein1, 5 93.73(n)1
    98.24(a)1
      6 (39.13 cM)5
    127851  NM_001109746.11  NP_001103216.11 
     878430825 
    chicken
    (Gallus gallus)
    Aves CNBP1 CCHC-type zinc finger, nucleic acid binding protein 90.64(n)
    97.66(a)
      395731  NM_204907.1  NP_990238.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.9852 Xenopus laevis cellular nucleic acid binding protein more 84.44(n)    U20977.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufe36b092 wufe36b09 80.04(n)   326846  BC056793.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG38006
    --
    41(a)
    1 → many
    2R(18822092-18824453)
    worm
    (Caenorhabditis elegans)
    Secernentea K08D12.36
    Protein K08D12.3, isoform a
    36(a)
    1 → many
    IV(1710265-1711141) WBGene00019537
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GIS21 GIS2 55.56(n)
    48.25(a)
      855466   NP_014144.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CNBP gene
    ZCCHC132  
    2 SIMAP similar genes for CNBP using alignment to 3 protein entries:     CNBP_HUMAN (see all proteins):
    ZNF9    ZCCHC13

    CNBP for paralogs           About GeneDecksing



    (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 CNBP (see all 495)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1394520101,2
    C--128869708(+) AAGGAA/GCACTT 6 -- ds50010--------
    rs98753921,2
    C,F,A,H--128869725(+) CTCCTA/GTGAAT 6 -- ds500123Minor allele frequency- G:0.18NS EA NA WA CSA 2351
    rs1823626971,2
    --128869794(+) CAGCAC/GAAGGA 6 -- ds50010--------
    rs1158727631,2
    C,F--128869806(+) TGGGTG/ACATGA 6 -- ds50011Minor allele frequency- A:0.06WA 118
    rs1453150401,2
    --128869930(+) GAGCCA/GTAACA 6 -- ds50010--------
    rs1476322591,2
    --128869931(+) AGCCAC/TAACAA 6 -- ds50010--------
    rs789224661,2
    F--128870016(+) ACCAGC/ACCCCA 6 -- ds50011Minor allele frequency- A:0.05WA 118
    rs1500145261,2
    C--128870068(+) CCCAA-/CCTAAC 6 -- ds50010--------
    rs1181605271,2
    C,F--128870085(+) GCCTTC/TGAAAA 6 -- ds50011Minor allele frequency- T:0.02EA 120
    rs11330461,2
    C--128870154(-) TTAACA/CCAATA 6 -- ut312Minor allele frequency- C:0.00NA 4

    HapMap Linkage Disequilibrium report for CNBP (128886658 - 128902810 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CNBP:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv5251n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): CNBP
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CNBP
    DNA2.0 Custom Variant and Variant Library Synthesis for CNBP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 116955   
    OMIM disorders: 602668  
    UniProtKB/Swiss-Prot: CNBP_HUMAN, P62633
  • Dystrophia myotonica 2 (DM2) [MIM:602668]: A multisystem disease characterized by the association of
    proximal muscle weakness with myotonia, cardiac manifestations and cataract. Additional features can include
    hyperhidrosis, testicular atrophy, insulin resistance and diabetes and central nervous system anomalies in rare
    cases. Note=The disease is caused by mutations affecting the gene represented in this entry. The causative
    mutation is a CCTG expansion (mean approximately 5000 repeats) located in intron 1 of the CNBP gene

  • Selected diseases for CNBP (see all 26):    
    About MalaCards
    prostatic cyst    myotonic dystrophy type 2    nondystrophic myotonia    thomsen disease
    myotonic dystrophy    myotonia    myotonic dystrophy type 1    reactive arthritis
    sleep disorder    fibromyalgia    frontotemporal dementia    cataract
    dementia    myopathy    blindness    insulin resistance
    lupus erythematosus    arthritis    retinitis    cervicitis

    2 diseases from the University of Copenhagen DISEASES database for CNBP:
    Myotonic dystrophy     Thomsen disease

    CNBP for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for CNBP gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myotonic dystrophy 87.5 58 20458885 (2), 16376058 (2), 15652222 (2), 16876389 (1) (see all 27)
    promm 87.4 12 15215218 (1), 12601109 (1), 17395134 (1), 14666402 (1) (see all 6)
    cataract 20.6 2 17395134 (1)
    creutzfeldt-jakob disease 11.2 1 8516321 (1)
    immunodeficiency 8.84 2 12857921 (1), 10593967 (1)
    inflammation 3.37 1 15621569 (1)
    tumors 3 1 16327994 (1)
    lupus erythematosus systemic 0 1 15621569 (1)
    leukemia 0 1 12581738 (1)
    virus infection 0 1 16254365 (1)

    GeneTests: CNBP
    GeneReviews: CNBP
    Genetic Association Database (GAD): CNBP
    Human Genome Epidemiology (HuGE) Navigator: CNBP (3 documents)

    Export disorders for CNBP 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 CNBP gene, integrated from 10 sources (see all 183):
    (articles sorted by number of sources associating them with CNBP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. (PubMed id 11486088)1, 2, 3, 9 Liquori C.L.... Ranum L.P. (Science 2001)
    2. Organization of the gene encoding cellular nucleic acid-binding protein. (PubMed id 7590281)1, 2, 9 Flink I.L. and Morkin E. (Gene 1995)
    3. Mapping of the gene for CNBP, a finger protein, to human chromosome 3q13.3-q24. (PubMed id 2249857)1, 3, 9 Lusis A.J....Sparkes R.S. (Genomics 1990)
    4. Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia. (PubMed id 18975316)1, 4 Auvinen S....Udd B. (Arthritis Rheum. 2008)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. 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. (Genome Res. 2004)
    7. Identification of a zinc finger protein that binds to the sterol regulatory element. (PubMed id 2562787)1, 2 Rajavashisth T.B.... Lusis A.J. (Science 1989)
    8. Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2). (PubMed id 16376058)1, 9 Botta A....Loreni F. (Biochim. Biophys. Acta 2006)
    9. Mouse cellular nucleic acid binding proteins: a highly conserved family identified by genetic mapping and sequencing. (PubMed id 7896269)1, 9 Warden C.H....Lusis A.J. (Genomics 1994)
    10. DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression. (PubMed id 16624843)1, 9 Margolis J.M....Ranum L.P. (Hum. Mol. Genet. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 7555 HGNC: 13164 AceView: ZNF9 Ensembl:ENSG00000169714 euGenes: HUgn7555
    ECgene: CNBP H-InvDB: CNBP

    (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 CNBP Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CNBP[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CNBP gene:
    Search GeneIP for patents involving CNBP

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



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