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

CNBP Gene

protein-coding   GIFtS: 51
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)
 Explore 24 diseases affiliated with
CNBP via
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Biological research products
for CNBP    

Aliases
for CNBP gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
CCHC-Type Zinc Finger, Nucleic Acid Binding Protein1 2     Zinc Finger Protein 91 3
ZNF91 2 3 5     PROMM2 5
RNF1631 2 3     Cellular Nucleic Acid Binding Protein2
CNBP11 2 5     Cellular Nucleic Acid-Binding Protein2
DM21 2 5     Erythroid Differentiation-Related2
ZCCHC221 2     Sterol Regulatory Element-Binding Protein2
Zinc Finger Protein 9 (A Cellular Retroviral Nucleic Acid Binding Protein)1 2     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


Summaries
for CNBP gene

(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 CNBP:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences 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 plasmid: CNBP promoter sequence
   Search SABiosciences Chromatin IP Primers for CNBP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for CNBP gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CNBP_HUMAN, P62633 (See protein sequence)
Recommended Name: Cellular nucleic acid-binding protein  
Size: 177 amino acids; 19463 Da
Subcellular location: Cytoplasm (By similarity). Endoplasmic reticulum (By similarity)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P62633

    • CNBP Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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  

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    Novus Biologicals CNBP Proteins
    Novus Biologicals CNBP Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CNBP

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    CNBP for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for CNBP gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CNBP for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    Function
    for CNBP gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    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 plasmid: CNBP 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    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:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003697single-stranded DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity TAS2562787
    GO:0003727single-stranded RNA binding ----


    CNBP for ontologies           About GeneDecksing


    Animal Models:
         8 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cnbp):
     cellular  craniofacial  embryogenesis  growth/size  mortality/aging 
     nervous system  skeleton  vision/eye 

    CNBP for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CNBP gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CNBP

    5/474 Interacting proteins for CNBP (P626333) via UniProtKB, MINT, STRING, and/or I2D (see all 474)
    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

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


    CNBP for ontologies           About GeneDecksing



    Drugs & Compounds
    for CNBP gene

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

    CNBP for compounds           About GeneDecksing

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

    Browse Tocris compounds for CNBP
    8 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about CNBP 

    Transcripts
    for CNBP gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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


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    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 plasmid: CNBP 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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 

    24/51 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 

    24/1000 AceView cDNA sequences (see all 1000):

    CB215312 AW162036 BM662151 CR599232 CR626515 AI682386 CR615983 BQ219749 
    BU902517 CR616385 BC014911 CR608484 CR608775 BM781496 BM460631 CR602369 
    BU630334 BU173733 AI952921 AI886373 CD365552 BM541323 AI679309 AK054592 

    GeneLoc Exon Structure

    5/17 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

    Expression
    for CNBP gene

    (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

    CNBP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CGTGTTAATG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CNBP expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Reproductive SystemMesonephrosMesonephric cellsReproductive System
    KidneyMetanephrosKidney
    Reproductive SystemMesonephrosReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.518249

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including CNBP: 
              Insulin Resistance in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Fatty Liver in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for CNBP gene

    (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 CNBP gene from 8/28 species (see all 28)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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 
    lizard
    (Anolis carolinensis)    		 Reptilia CNBP6
    		 --
    		 97(a)
    		 1 → many
    		 2(159123254-159124431)
    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 CG38001 CG3800 53.56(n)
    47.59(a)    		   37646  NM_137895.2  NP_611739.1 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes GIS21 Gis2p 55.26(n)
    47.37(a)    		   855466   NP_014144.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT3G434906
    AT1G755606
    (see all 4)    		 CCHC-type zinc knuckle protein
    (see all 4)    		 9(a)
    23(a)
    (see all 4)    		 possible ortholog
    1 ↔ many
    (see all 4)    		 3(15398859-15400079)
    1(28371141-28373241)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 4)    		 zinc knuckle domain containing protein, expressed
    (see all 4)    		 24(a)
    21(a)
    (see all 4)    		 many ↔ many
    many ↔ many
    (see all 4)    		 10(21240057-21243909)
    3(34427867-34431322)


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

    Paralogs
    for CNBP gene

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



    Genomic Variants
    for CNBP gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/393 NCBI SNPs in CNBP are shown (see all 393)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1394520101,2
    		--128886247(+) AAGGAA/GCACTT 6 -- ds50010--------
    rs98753921,2
    		C,F,A,H,--128886264(+) CTCCTA/GTGAAT 6 -- ds500123Minor allele frequency- G:0.18NS EA NA WA CSA 2351
    rs1823626971,2
    		--128886333(+) CAGCAC/GAAGGA 6 -- ds50010--------
    rs1158727631,2
    		C,F,--128886345(+) TGGGTG/ACATGA 6 -- ds50011Minor allele frequency- A:0.06WA 118
    rs1453150401,2
    		--128886469(+) GAGCCA/GTAACA 6 -- ds50010--------
    rs1476322591,2
    		--128886470(+) AGCCAC/TAACAA 6 -- ds50010--------
    rs789224661,2
    		F,--128886555(+) ACCAGC/ACCCCA 6 -- ds50011Minor allele frequency- A:0.05WA 118
    rs1500145261,2
    		--128886607(+) CCCAA-/CCTAAC 6 -- ds50010--------
    rs1181605271,2
    		F,--128886624(+) GCCTTC/TGAAAA 6 -- ds50011Minor allele frequency- T:0.02EA 120
    rs11330461,2
    		C--128886693(-) TTAACA/CCAATA 6 -- ut312Minor allele frequency- C:0.00NA 4

    HapMap Linkage Disequilibrium report for CNBP (128886658 - 128902810 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CNBP: --
    Human Gene Mutation Database (HGMD): CNBP

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for CNBP gene

    (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.)
    About This Section
    CNBP for disorders           About GeneDecksing

    OMIM gene information: 116955   
    OMIM disorders: 602668  
    UniProtKB/Swiss-Prot: CNBP_HUMAN, P62633
  • Defects in CNBP are the cause of dystrophia myotonica type 2 (DM2) [MIM:602668]; also known as proximal
    • myotonic myopathy (PROMM). 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 causative mutation is a
    CCTG expansion (mean approximately 5000 repeats) located in intron 1 of the CNBP gene

    20/24 diseases for CNBP (see all 24):    About MalaCards
    myotonic dystrophy type 2    myotonic dystrophy    nondystrophic myotonia    myotonic dystrophy type 1
    myotonia    frontotemporal dementia    reactive arthritis    lupus erythematosus
    sleep disorder    insulin resistance    prostatic cyst    fibromyalgia
    myopathy    dementia    cervical carcinoma    cervicitis
    colon cancer    arthritis    blindness    immunodeficiency

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

    10/13 Novoseek 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
    Myotonic Dystrophy Type 2

    Human Genome Epidemiology (HuGE) Navigator: CNBP (3 documents)

    Export disorders for CNBP gene to outside databases

    Publications
    for CNBP gene

    (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 CNBP gene, integrated from 9 sources (see all 172):
    (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. (2001)
    2. Organization of the gene encoding cellular nucleic acid-binding protein. (PubMed id 7590281)1, 2, 9 Flink I.L. and Morkin E. (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. (1990)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. 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)
    6. Identification of a zinc finger protein that binds to the sterol regulatory element. (PubMed id 2562787)1, 2 Rajavashisth T.B.... Lusis A.J. (1989)
    7. 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. (2006)
    8. 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. (1994)
    9. 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. (2006)
    10. Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population. (PubMed id 15652222)1, 9 Vallo L....Botta A. (2005)

    External Searches for CNBP gene

    (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)

    Genome Databases showing CNBP gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7555 HGNC: 13164 AceView: ZNF9 Ensembl:ENSG00000169714 euGenes: HUgn7555
    ECgene: CNBP H-InvDB: CNBP

    Other Databases showing CNBP gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CNBP gene

    (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 CNBP Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CNBP

    Intellectual Property
    for CNBP gene

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

     
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