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CNOT3 Gene

protein-coding   GIFtS: 63
GCID: GC19P054641

CCR4-NOT Transcription Complex, Subunit 3


(Previous symbol: NOT3)
  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
CCR4-NOT Transcription Complex, Subunit 31 2     Yeast) Homolog1
NOT31 2 3 5     NOT3H2
Leukocyte Receptor Cluster Member 22 3     CCR4-NOT Transcription Complex Subunit 32
LENG22 3     NOT3 (Negative Regulator Of Transcription 3, Yeast) Homolog2
CCR4-Associated Factor 32 3     KIAA06913
NOT3 (Negative Regulator Of Transcription 31     

External Ids:    HGNC: 78791   Entrez Gene: 48492   Ensembl: ENSG000000880387   OMIM: 6049105   UniProtKB: O751753   

Export aliases for CNOT3 gene to outside databases

Previous GC identifers: GC19P055290 GC19P055066 GC19P059318 GC19P059333 GC19P050957


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CNOT3 Gene:
CNOT3 (CCR4-NOT transcription complex, subunit 3) is a protein-coding gene. Diseases associated with CNOT3 include retrograde amnesia, and precursor t-cell acute lymphoblastic leukemia.

UniProtKB/Swiss-Prot: CNOT3_HUMAN, O75175
Function: Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to
various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression
during translational initiation and general transcription regulation. Additional complex functions may be a
consequence of its influence on mRNA expression. May be involved in metabolic regulation; may be involved in
recruitment of the CCR4-NOT complex to deadenylation target mRNAs involved in energy metabolism. Involved in
mitotic progression and regulation of the spindle assembly checkpoint by regulating the stability of MAD1L1 mRNA.
Can repress transcription and may link the CCR4-NOT complex to transcriptional regulation; the repressive
function may involve histone deacetylases. Involved in the maintenance of emryonic stem (ES) cell identity

Gene Wiki entry for CNOT3 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_000019.10  NT_011109.17  NT_187693.1  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CNOT3 gene promoter:
         TBP   Egr-1   STAT5A   C/EBPalpha   GATA-1   PPAR-gamma1   TFIID   PPAR-gamma2   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCNOT3 promoter sequence
   Search Chromatin IP Primers for CNOT3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CNOT3


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

Entrez Gene cytogenetic band: 19q13.4   Ensembl cytogenetic band:  19q13.42   HGNC cytogenetic band: 19q13.4

CNOT3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNOT3 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P054641:  view genomic region     (about GC identifiers)

Start:
54,641,436 bp from pter      End:
54,659,446 bp from pter
Size:
18,011 bases      Orientation:
plus strand

Selected alternative locations (see all 8):
Chr19+,NW_003571056 112,549-130,559      Chr19+,NW_003571061 112,549-130,559      Chr19+,NW_003571054 112,549-130,558     
Chr19+,NW_003571060 112,549-130,559      Chr19+,NW_003571058 112,549-130,559      Chr19+,NW_003571057 112,549-130,559     

(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: CNOT3_HUMAN, O75175 (See protein sequence)
Recommended Name: CCR4-NOT transcription complex subunit 3  
Size: 753 amino acids; 81872 Da
Subunit: Component of the CCR4-NOT complex; distinct complexes seem to exist that differ in the participation of
probably mutually exclusive catalytic subunits. In the complex interacts directly with CNOT2. Interacts with
TIP120B and NANOS2
Developmental stage: Expressed in embryonic stem (ES) cells
Sequence caution: Sequence=BAA31666.2; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for CNOT3:
4C0D (3D)        4C0G (3D)    
Secondary accessions: Q9NZN7 Q9UF76
Alternative splicing: 3 isoforms:  O75175-1   O75175-2   O75175-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CNOT3: NX_O75175

Explore proteomics data for CNOT3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys737
  • Modification sites at PhosphoSitePlus

  • See CNOT3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055331.1  
    ENSEMBL proteins: 
     ENSP00000221232   ENSP00000383954   ENSP00000398463   ENSP00000411587   ENSP00000401703  
     ENSP00000420064   ENSP00000351159  
    Reactome Protein details: O75175

    CNOT3 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for CNOT3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR007282 NOT
     IPR012270 CCR4-NOT_su3/5
     IPR007207 Not_N

    Graphical View of Domain Structure for InterPro Entry O75175

    ProtoNet protein and cluster: O75175

    1 Blocks protein domain: IPB007282 NOT2/NOT3/NOT5

    UniProtKB/Swiss-Prot: CNOT3_HUMAN, O75175
    Similarity: Belongs to the CNOT2/3/5 family


    CNOT3 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: CNOT3_HUMAN, O75175
    Function: Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to
    various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression
    during translational initiation and general transcription regulation. Additional complex functions may be a
    consequence of its influence on mRNA expression. May be involved in metabolic regulation; may be involved in
    recruitment of the CCR4-NOT complex to deadenylation target mRNAs involved in energy metabolism. Involved in
    mitotic progression and regulation of the spindle assembly checkpoint by regulating the stability of MAD1L1 mRNA.
    Can repress transcription and may link the CCR4-NOT complex to transcriptional regulation; the repressive
    function may involve histone deacetylases. Involved in the maintenance of emryonic stem (ES) cell identity

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10637334
         
    CNOT3 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CNOT3:
     Cell division defect  Increased G2M DNA content 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cnot3):
     cardiovascular system  embryogenesis  mortality/aging  muscle 

    CNOT3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cnot3tm1Pngr for CNOT3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CNOT3
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    miRNA
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    miRTarBase miRNAs that target CNOT3:
    hsa-let-7c-5p (MIRT051783), hsa-mir-652-3p (MIRT039544), hsa-mir-185-3p (MIRT038618)

    Block miRNA regulation of human, mouse, rat CNOT3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CNOT3 (see all 17):
    hsa-miR-3194-5p hsa-miR-185* hsa-miR-486-3p hsa-miR-3150a-3p hsa-miR-548a-3p hsa-miR-3613-3p hsa-miR-3662 hsa-miR-299-5p
    SwitchGear 3'UTR luciferase reporter plasmidCNOT3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CNOT3

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: CNOT3 (NM_014516)
    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNOT3


    (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
    CNOT3_HUMAN, O75175: Cytoplasm (Probable). Nucleus (Probable). Cytoplasm, P-body (By similarity). Note=NANOS2
    promotes its localization to P-body (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus4

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000932cytoplasmic mRNA processing body ISS--
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0030014CCR4-NOT complex IDA19558367

    CNOT3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CNOT3 About    
    See pathways by source

    SuperPathContained pathways About
    1Deadenylation-dependent mRNA decay
    Deadenylation-dependent mRNA decay0.48
    Deadenylation of mRNA0.48
    RNA degradation0.48
    2Gene Expression
    Gene Expression0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for CNOT3
        Deadenylation of mRNA


    1 Kegg Pathway  (Kegg details for CNOT3):
        RNA degradation


    CNOT3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CNOT3
    Interactions:

        Search GeneGlobe Interaction Network for CNOT3

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

    Selected Interacting proteins for CNOT3 (O751751, 2, 3 ENSP000002212324) via UniProtKB, MINT, STRING, and/or I2D (see all 704)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CNOT2Q9NZN81, 2, 3, ENSP000002291954EBI-743073,EBI-743033 MINT-2835143 MINT-66316 I2D: score=5 STRING: ENSP00000229195
    CNOT6LQ96LI51, 3, ENSP000002649034EBI-743073,EBI-1046635 I2D: score=2 STRING: ENSP00000264903
    SRRM1Q8IYB32, 3, ENSP000003262614MINT-7947479 I2D: score=1 STRING: ENSP00000326261
    TOB1P506161, 3, ENSP000002689574EBI-743073,EBI-723281 I2D: score=1 STRING: ENSP00000268957
    ACTBP607092, 3MINT-7947479 I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000288nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay TAS--
    GO:0000289nuclear-transcribed mRNA poly(A) tail shortening TAS--
    GO:0001829trophectodermal cell differentiation IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--

    CNOT3 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 CNOT3



    (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 CNOT3 gene: 
    NM_014516.3  

    Unigene Cluster for CNOT3:

    CCR4-NOT transcription complex, subunit 3
    Hs.343571  [show with all ESTs]
    Unigene Representative Sequence: NM_014516
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000221232(uc010yel.2 uc002qdj.2) ENST00000482247(uc002qdi.3)
    ENST00000406403(uc002qdk.2) ENST00000440571 ENST00000447684(uc010ere.2)
    ENST00000457463 ENST00000496327 ENST00000489953 ENST00000471126 ENST00000358389

    miRNA
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    Block miRNA regulation of human, mouse, rat CNOT3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CNOT3 (see all 17):
    hsa-miR-3194-5p hsa-miR-185* hsa-miR-486-3p hsa-miR-3150a-3p hsa-miR-548a-3p hsa-miR-3613-3p hsa-miR-3662 hsa-miR-299-5p
    SwitchGear 3'UTR luciferase reporter plasmidCNOT3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CNOT3
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CNOT3 (NM_014516)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CNOT3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CNOT3
    Primer
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    OriGene qPCR primer pairs and template standards for CNOT3
    OriGene qSTAR qPCR primer pairs in human, mouse for CNOT3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CNOT3
      QuantiTect SYBR Green Assays in human, mouse, rat CNOT3
      QuantiFast Probe-based Assays in human, mouse, rat CNOT3

    Additional mRNA sequence: 

    AF180474.1 AK300434.1 BC016474.1 

    13 DOTS entries:

    DT.408432  DT.95094517  DT.91663121  DT.95345235  DT.99930428  DT.100796913  DT.121495648  DT.65287236 
    DT.95084924  DT.121495627  DT.92399251  DT.40230320  DT.92431575 

    Selected AceView cDNA sequences (see all 227):

    BU855802 BE042621 AA977757 BM781759 BX464005 BM468823 BU553524 BX282326 
    NM_014516 BM452661 BU557301 AI991516 BM905867 BU931138 W67712 CF272385 
    AI658602 BQ219293 BM822312 AL133647 BQ940449 BP366160 BQ220037 BM757193 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CNOT3 (see all 11)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a ·
    SP1:                          -                                                                                                                                 
    SP2:                          -                                                                                                                                 
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 19b ^ 20
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for CNOT3

    (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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    CNOT3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGATCCCCC
    CNOT3 Expression
    About this image


    CNOT3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    CNOT3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CNOT3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.343571

    UniProtKB/Swiss-Prot: CNOT3_HUMAN, O75175
    Tissue specificity: Ubiquitous. Highly expressed in brain, heart, thymus, spleen, kidney, liver, small intestine,
    lung and peripheral blood leukocytes

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNOT3

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

    Orthologs for CNOT3 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cnot31 , 5 CCR4-NOT transcription complex, subunit 31, 5 90.95(n)1
    95.07(a)1
      7 (2.10 cM)5
    2327911  NM_146176.31  NP_666288.11 
     36452905 
    lizard
    (Anolis carolinensis)
    Reptilia CNOT36
    CCR4-NOT transcription complex, subunit 3
    85(a)
    1 ↔ 1
    GL343279.1(1557111-1585550)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.336202 Xenopus laevis transcribed sequence with moderate similarity more 79.7(n)    BX854979.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AY391415.12   -- 76.88(n)   327627  AY391415.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG84263 transcription 64(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea Y56A3A.13   -- 43(a)   III(11909124-11918106)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NOT3(YIL038C)4 Subunit of the CCR4-NOT complex, which is a global more   --   9(282652-280142) 854773  NP_012226.1 
    rice
    (Oryza sativa)
    Liliopsida Os.87772 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.25(n)    AK102019.1 


    ENSEMBL Gene Tree for CNOT3 (if available)
    TreeFam Gene Tree for CNOT3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CNOT3 gene
    1 SIMAP similar gene for CNOT3 using alignment to 5 protein entries:     CNOT3_HUMAN (see all proteins):
    FLJ00420

    CNOT3 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 CNOT3 (see all 547)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs753484321,2
    C,F--54639661(+) AACAAC/GAACAA 1 -- us2k12Minor allele frequency- G:0.05WA NA 238
    rs1467631411,2
    C--54639718(+) AGTCAC/TCGCTA 1 -- us2k10--------
    rs48067161,2
    C,F,A,H--54639868(+) TAGCAA/GAGCTC 1 -- us2k123Minor allele frequency- G:0.33NS EA NA WA CSA 2347
    rs1393891851,2
    --54639922(+) GCCTAA/CGAATA 1 -- us2k10--------
    rs352925941,2
    C,F--54639948(+) ATTCCT/GCCTCC 1 -- us2k15Minor allele frequency- G:0.13NA 128
    rs736130141,2
    C,F--54640045(+) TTCCAC/TCACCT 1 -- us2k13Minor allele frequency- T:0.06WA 122
    rs113753051,2
    C--54640138(+) CTAGTT/-AAGTT 1 -- us2k11Minor allele frequency- -:0.50NA 2
    rs757887461,2
    --54640139(+) CTAGTA/TAGTTT 1 -- us2k10--------
    rs1172038681,2
    C,F--54640280(+) TAGACG/ATACAA 1 -- us2k11Minor allele frequency- A:0.02NA 120
    rs1432984371,2
    --54640343(+) TCAGGG/TAAGTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CNOT3 (54641436 - 54659446 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for CNOT3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718812CNV Deletion23290073
    nsv2545CNV Insertion18451855
    nsv912398CNV Loss21882294
    nsv515623CNV Loss19592680
    esv24700CNV Loss19812545
    dgv4002n71CNV Loss21882294
    dgv4001n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): CNOT3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CNOT3
    DNA2.0 Custom Variant and Variant Library Synthesis for CNOT3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604910    OMIM disorders: --

    14 diseases for CNOT3:    
    About MalaCards
    retrograde amnesia    precursor t-cell acute lymphoblastic leukemia    brain cancer    spondylitis
    ankylosing spondylitis    retinitis pigmentosa    tonsillitis    lymphoblastic leukemia
    retinitis    malaria    thyroiditis    cerebritis
    leukemia    prostatitis


    CNOT3 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: CNOT3 (1 document)

    Export disorders for CNOT3 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 CNOT3 gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with CNOT3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and characterization of human orthologs of yeast CCR4-NOT complex subunits. (PubMed id 10637334)1, 2, 3 Albert T.K....Timmers H.T.M. (Nucleic Acids Res. 2000)
    2. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2, 3 Ishikawa K.... Ohara O. (DNA Res. 1998)
    3. Cnot1, Cnot2, and Cnot3 maintain mouse and human ESC identity and inhibit extraembryonic differentiation. (PubMed id 22367759)1, 2 Zheng X.... Hu G. (Stem Cells 2012)
    4. Involvement of CNOT3 in mitotic progression through inhibition of MAD1 expression. (PubMed id 22342980)1, 2 Takahashi A.... Yamamoto T. (Biochem. Biophys. Res. Commun. 2012)
    5. Human Ccr4-Not complexes contain variable deadenylase subunits. (PubMed id 19558367)1, 2 Lau N.C.... Timmers H.T. (Biochem. J. 2009)
    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. TBP-interacting protein 120B, which is induced in relation to myogenesis, binds to NOT3. (PubMed id 12207886)1, 2 Aoki T.... Tamura T.-A. (Biochem. Biophys. Res. Commun. 2002)
    8. Structure and assembly of the NOT module of the human CCR4-NOT complex. (PubMed id 24121232)1 Boland A....Izaurralde E. (amp 2013)
    9. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    10. Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia. (PubMed id 23263491)1 De Keersmaecker K....Cools J. (Nat. Genet. 2013)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4849 HGNC: 7879 AceView: CNOT3 Ensembl:ENSG00000088038 euGenes: HUgn4849
    ECgene: CNOT3 Kegg: 4849 H-InvDB: CNOT3

    (According to HUGE)
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    HUGE: KIAA0691

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CNOT3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CNOT3 gene:
    Search GeneIP for patents involving CNOT3

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



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