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CDKN3 Gene

protein-coding   GIFtS: 61
GCID: GC14P054863

Cyclin-Dependent Kinase Inhibitor 3

  See CDKN3-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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Cyclin-Dependent Kinase Inhibitor 31 2     KAP2 3
CDK2-Associated Dual Specificity Phosphatase1 2     CDK2-Associated Dual-Specificity Phosphatase2 3
Kinase Associated Phosphatase1 2     Cyclin-Dependent Kinase Inhibitor1
Cyclin-Dependent Kinase Interactor 12 3     KAP12
Cyclin-Dependent Kinase-Interacting Protein 22 3     Cdk-Associated Protein Phosphatase2
Kinase-Associated Phosphatase2 3     Cyclin-Dependent Kinase Interacting Protein 22
CDI12 3     EC 3.1.3.163
CIP22 3     EC 3.1.3.483

External Ids:    HGNC: 17911   Entrez Gene: 10332   Ensembl: ENSG000001005267   OMIM: 1238325   UniProtKB: Q166673   
ORGUL members:         

Export aliases for CDKN3 gene to outside databases

Previous GC identifers: GC14P052187 GC14P048659 GC14P052853 GC14P053933 GC14P035026


(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 CDKN3 Gene:
The protein encoded by this gene belongs to the dual specificity protein phosphatase family. It was identified as
a cyclin-dependent kinase inhibitor, and has been shown to interact with, and dephosphorylate CDK2 kinase, thus
prevent the activation of CDK2 kinase. This gene was reported to be deleted, mutated, or overexpressed in several
kinds of cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Aug 2008)

GeneCards Summary for CDKN3 Gene:
CDKN3 (cyclin-dependent kinase inhibitor 3) is a protein-coding gene. Diseases associated with CDKN3 include hepatoblastoma, somatic, and hepatocellular carcinoma, childhood. GO annotations related to this gene include protein tyrosine phosphatase activity and protein tyrosine/serine/threonine phosphatase activity.

UniProtKB/Swiss-Prot: CDKN3_HUMAN, Q16667
Function: May play a role in cell cycle regulation. Dual specificity phosphatase active toward substrates
containing either phosphotyrosine or phosphoserine residues. Dephosphorylates CDK2 at 'Thr-160' in a
cyclin-dependent manner

Gene Wiki entry for CDKN3 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 at NCBI GenBank:
NC_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CDKN3 gene promoter:
         CUTL1   Nkx2-5   CBF-C   CBF-A   CBF-B   CP1A   CP1C   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CDKN3 promoter sequence
   Search Chromatin IP Primers for CDKN3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CDKN3


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

Entrez Gene cytogenetic band: 14q22   Ensembl cytogenetic band:  14q22.2   HGNC cytogenetic band: 14q22

CDKN3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDKN3 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P054863:  view genomic region     (about GC identifiers)

Start:
54,863,567 bp from pter      End:
54,886,936 bp from pter
Size:
23,370 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: CDKN3_HUMAN, Q16667 (See protein sequence)
Recommended Name: Cyclin-dependent kinase inhibitor 3  
Size: 212 amino acids; 23805 Da
Subunit: Interacts with cyclin-dependent kinases such as CDK1, CDK2 and CDK3. Does not interact with CDK4.
Interacts (via C-terminus) with phosphorylated CDK2 (via C-terminal helix). Interacts with MS4A3 (via
C-terminus); the interaction enhances CDKN3 enzymatic activity
2 PDB 3D structures from and Proteopedia for CDKN3:
1FPZ (3D)        1FQ1 (3D)    
Secondary accessions: Q53ZU6 Q5U0M4 Q6P1N8 Q99585 Q9BPW7 Q9BY36 Q9C042 Q9C046 Q9C047 Q9C049
Q9C051 Q9C053
Alternative splicing: 2 isoforms:  Q16667-1   Q16667-2   

Explore the universe of human proteins at neXtProt for CDKN3: NX_Q16667

Explore proteomics data for CDKN3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys184
  • Modification sites at PhosphoSitePlus

  • See CDKN3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001124323.1  NP_005183.2  

    ENSEMBL proteins: 
     ENSP00000335357   ENSP00000440404   ENSP00000415333   ENSP00000396451   ENSP00000450711  
     ENSP00000445572   ENSP00000378944  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    DUSPC: Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s

    3 InterPro protein domains:
     IPR022778 CDKN3
     IPR000387 Tyr/Dual-sp_Pase
     IPR008425 CDK_inhib_3

    Graphical View of Domain Structure for InterPro Entry Q16667

    ProtoNet protein and cluster: Q16667

    UniProtKB/Swiss-Prot: CDKN3_HUMAN, Q16667
    Similarity: Belongs to the protein-tyrosine phosphatase family


    Find genes that share domains with CDKN3           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CDKN3_HUMAN, Q16667
    Function: May play a role in cell cycle regulation. Dual specificity phosphatase active toward substrates
    containing either phosphotyrosine or phosphoserine residues. Dephosphorylates CDK2 at 'Thr-160' in a
    cyclin-dependent manner
    Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate
    Catalytic activity: [a protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + phosphate
    Induction: Up-regulated in breast and prostate cancer cells

         Genatlas biochemistry entry for CDKN3:
    cyclin dependent kinases CDC2 (CDK1) and CDK2 (CDC2/CDK2) inhibitor,expressed at the G1 to S transition of the
    cell cycle

         Enzyme Numbers (IUBMB): EC 3.1.3.161 EC 3.1.3.481

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004721phosphoprotein phosphatase activity ----
    GO:0004722protein serine/threonine phosphatase activity IDA12745075
    GO:0004725protein tyrosine phosphatase activity IDA8242750
    GO:0005515protein binding IPI11463386
    GO:0008138protein tyrosine/serine/threonine phosphatase activity TAS8242750
         
    Find genes that share ontologies with CDKN3           About GenesLikeMe


    Phenotypes:
         5 GenomeRNAi human phenotypes for CDKN3:
     Decreased focal adhesion (FA)   Decreased nuclei size in G2M  Increased cell death in breast  Increased gamma-H2AX phosphory 
     Paclitaxel antagonistic effect 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CDKN3
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    miRNA
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    miRTarBase miRNAs that target CDKN3:
    hsa-mir-215-5p (MIRT024518), hsa-mir-192-5p (MIRT026751), hsa-mir-146a-5p (MIRT005705), hsa-mir-92a-3p (MIRT049159)

    Block miRNA regulation of human, mouse, rat CDKN3 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate CDKN3:
    hsa-miR-3130-3p
    SwitchGear 3'UTR luciferase reporter plasmidCDKN3 3' UTR sequence
    Inhib. RNA
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    Sino Biological Human cDNA Clone for CDKN3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CDKN3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CDKN3

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDKN3


    (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
    CDKN3_HUMAN, Q16667: Cytoplasm, perinuclear region
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    cytoskeleton1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0048471perinuclear region of cytoplasm IDA10669749

    Find genes that share ontologies with CDKN3           About GenesLikeMe


    (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 CDKN3: 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Cell Cycle in human mouse rat
              Protein Phosphatases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CDKN3

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

    Selected Interacting proteins for CDKN3 (Q166671, 2, 3 ENSP000003353574) via UniProtKB, MINT, STRING, and/or I2D (see all 129)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDK3Q005262, 3, ENSP000004000884MINT-17536 I2D: score=3 STRING: ENSP00000400088
    CDK1P064932, 3MINT-14184 I2D: score=4 
    CDK2P249411, 2, 3, ENSP000002669704EBI-1031527,EBI-375096 MINT-17387 MINT-17388 MINT-24981 I2D: score=6 STRING: ENSP00000266970
    CDC25AP303043, ENSP000003037064I2D: score=2 STRING: ENSP00000303706
    MS4A3Q96HJ53, ENSP000002788654I2D: score=2 STRING: ENSP00000278865
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000079regulation of cyclin-dependent protein serine/threonine kinase activity TAS8242750
    GO:0000082G1/S transition of mitotic cell cycle TAS8127873
    GO:0006470protein dephosphorylation ----
    GO:0007050cell cycle arrest IDA8242750
    GO:0008285negative regulation of cell proliferation TAS8242750

    Find genes that share ontologies with CDKN3           About GenesLikeMe



    (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 CDKN3

    3 HMDB Compounds for CDKN3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Selected Novoseek inferred chemical compound relationships for CDKN3 gene (see all 123)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    okadaic acid 92.6 314 14692510 (4), 1324932 (2), 1328535 (2), 8883894 (2) (see all 99)
    calyculin a 88.8 76 12207043 (2), 10358111 (2), 7617443 (1), 9003077 (1) (see all 70)
    tyrosine 86.7 670 1723248 (3), 12616716 (3), 7542629 (3), 10318859 (3) (see all 99)
    threonine 84.8 124 12562757 (3), 15704110 (2), 8209781 (2), 1325458 (1) (see all 99)
    phosphotyrosine 82.7 65 8550553 (2), 1965146 (2), 11698252 (2), 15501071 (2) (see all 57)
    p-nitrophenyl phosphate 80.3 40 1655274 (1), 12479873 (1), 18809681 (1), 20071031 (1) (see all 33)
    serine 80 146 12562757 (3), 8209781 (2), 1373816 (1), 1325458 (1) (see all 99)
    sodium orthovanadate 79.1 40 7510864 (1), 9298995 (1), 10633075 (1), 19833736 (1) (see all 36)
    vanadate 78.2 66 18255153 (2), 9160662 (2), 1514600 (1), 8330859 (1) (see all 58)
    phosphatidylinositol-3,4,5-trisphosphate 77.1 13 8537357 (1), 11250155 (1), 14561749 (1), 19689267 (1) (see all 13)



    Find genes that share compounds with CDKN3           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CDKN3 gene (2 alternative transcripts): 
    NM_001130851.1  NM_005192.3  

    Unigene Cluster for CDKN3:

    Cyclin-dependent kinase inhibitor 3
    Hs.84113  [show with all ESTs]
    Unigene Representative Sequence: BQ056337
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000555837 ENST00000335183(uc001xap.3 uc001xar.3 uc010aoj.2)
    ENST00000543789(uc010aoi.1) ENST00000442975 ENST00000458126 ENST00000556102
    ENST00000541304 ENST00000216414 ENST00000556305 ENST00000395577
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate CDKN3:
    hsa-miR-3130-3p
    SwitchGear 3'UTR luciferase reporter plasmidCDKN3 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF213033.1 AF213034.1 AF213035.1 AF213036.1 AF213037.1 AF213038.1 AF213039.1 AF213040.1 
    AF213041.1 AF213042.1 AF213044.1 AF213045.1 AF213046.1 AF213047.1 AF213048.1 AF213049.1 
    AF213050.1 AF213051.1 AF213052.1 AF213053.1 AK098653.1 AK293265.1 AY257474.1 AY257475.1 
    AY257476.1 AY257477.1 AY257478.1 AY257479.1 BC064965.1 BC103633.1 BT019451.1 CR407666.1 
    EF560750.1 L25876.1 L27711.1 U02681.1 

    6 DOTS entries:

    DT.100689659  DT.120762491  DT.91702665  DT.455366  DT.95140632  DT.95363338 

    Selected AceView cDNA sequences (see all 132):

    AA055005 CR609253 BU508532 BM781889 AA158059 BE794067 AI075136 BC064965 
    AI076409 AK098653 AA257019 AA315766 AA284072 BU618918 CA423508 AI372907 
    AI143496 BM838292 BP370235 BU616779 AI076701 BQ776294 BM091308 CA429066 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CDKN3 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for CDKN3

    (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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    CDKN3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCAGATATT
    CDKN3 Expression
    About this image


    CDKN3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             Testis Interstitium
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Bone marrow-derived hematopoietic stem cells (family)
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
     
     Kidney (Urinary System)
             Presumptive Podocytes Podocyte Layer
     
     Bone (Muscoskeletal System)
    CDKN3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CDKN3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.84113
        Pathway & Disease-focused RT2 Profiler PCR Arrays including CDKN3: 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Cell Cycle in human mouse rat
              Protein Phosphatases in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CDKN3
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CDKN3
    QuantiTect SYBR Green Assays in human, mouse, rat CDKN3
    QuantiFast Probe-based Assays in human, mouse, rat CDKN3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDKN3

    (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 chordates.

    Orthologs for CDKN3 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdkn31 , 5 cyclin-dependent kinase inhibitor 31, 5 88.47(n)1
    89.57(a)1
      14 (24.28 cM)5
    723911  NM_028222.11  NP_082498.11 
     467605415 
    chicken
    (Gallus gallus)
    Aves CDKN31 cyclin-dependent kinase inhibitor 3 69.42(n)
    66.99(a)
      423562  NM_001252162.1  NP_001239091.1 
    lizard
    (Anolis carolinensis)
    Reptilia CDKN36
    cyclin-dependent kinase inhibitor 3
    66(a)
    1 ↔ 1
    GL343533.1(198289-204508)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.243172 Danio rerio, Similar to cyclin-dependent kinase inhibitor more 71.93(n)    BC049021.1 


    ENSEMBL Gene Tree for CDKN3 (if available)
    TreeFam Gene Tree for CDKN3 (if available)

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

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    (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 CDKN3 (see all 569)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1444790381,2,,4
    C,FHepatocellular carcinoma (HCC)4 --35861545(+) ATCCAA/GTCGCA 4 I V mis12Minor allele frequency- G:0.00NA EU 5873
    VAR_0138464
    Hepatocellular carcinoma (HCC)4--see VAR_0138462 D V mis40--------
    VAR_0138474
    Hepatocellular carcinoma (HCC)4--see VAR_0138472 L F mis40--------
    VAR_0138434
    Hepatocellular carcinoma (HCC)4--see VAR_0138432 F L mis40--------
    VAR_0138494
    Hepatocellular carcinoma (HCC)4--see VAR_0138492 N S mis40--------
    VAR_0138504
    Hepatocellular carcinoma (HCC)4--see VAR_0138502 K I mis40--------
    VAR_0138444
    Hepatocellular carcinoma (HCC)4--see VAR_0138442 C Y mis40--------
    VAR_0138454
    Hepatocellular carcinoma (HCC)4--see VAR_0138452 N K mis40--------
    VAR_0138424
    Hepatocellular carcinoma (HCC)4--see VAR_0138422 W R mis40--------
    rs799496301,2
    F--35844896(+) TTCTAC/TGTCTA 2 -- us2k11Minor allele frequency- T:0.01WA 118

    HapMap Linkage Disequilibrium report for CDKN3 (54863567 - 54886936 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CDKN3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832801CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CDKN3
    DNA2.0 Custom Variant and Variant Library Synthesis for CDKN3

    (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: 123832    OMIM disorders: --

    UniProtKB/Swiss-Prot: CDKN3_HUMAN, Q16667
  • Hepatocellular carcinoma (HCC) [MIM:114550]: A primary malignant neoplasm of epithelial liver cells. The
    major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV)
    infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Note=The
    gene represented in this entry may be involved in disease pathogenesis

  • 14 diseases for CDKN3:    
    About MalaCards
    hepatoblastoma, somatic    hepatocellular carcinoma, childhood    hepatocellular carcinoma    bubonic plague
    acute fatty liver of pregnancy    estrogen-receptor negative breast cancer    proteus syndrome    hepatocellular carcinoma, somatic
    overnutrition    bannayan-riley-ruvalcaba syndrome    ruvalcaba syndrome    cowden disease
    leopard syndrome    breast cancer


    Find genes that share disorders with CDKN3           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CDKN3 gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cowden disease 78.7 21 11297621 (1), 15120218 (1), 17489063 (1), 18794875 (1) (see all 20)
    lafora disease 68.3 14 14532330 (3), 12915448 (1), 15651314 (1), 15930137 (1) (see all 10)
    bannayan-zonana syndrome 67.2 3 11964046 (1), 9256433 (1), 10959096 (1)
    centronuclear myopathy 64 6 10900271 (1), 12884002 (1), 17008356 (1), 11001925 (1) (see all 5)
    paired helical filament 61.8 1 8529836 (1)
    tumors 57.8 405 10903528 (3), 15205473 (2), 1965146 (2), 16142898 (2) (see all 99)
    cancer 56.3 166 12616716 (3), 19636948 (2), 9787181 (1), 15205473 (1) (see all 99)
    progressive myoclonus epilepsies 54.7 5 15930137 (1), 11001928 (1), 11355878 (1), 11739371 (1) (see all 5)
    glioblastoma 54.4 27 17483362 (2), 17219740 (1), 18088600 (1), 18804099 (1) (see all 24)
    cmt4b 53.7 1 12646134 (1)

    Genetic Association Database (GAD): CDKN3
    Human Genome Epidemiology (HuGE) Navigator: CDKN3 (1 document)

    Export disorders for CDKN3 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 CDKN3 gene, integrated from 10 sources (see all 2420):
    (articles sorted by number of sources associating them with CDKN3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cdi1, a human G1 and S phase protein phosphatase that associates with Cdk2. (PubMed id 8242750)1, 2, 3, 9 Gyuris J.... Brent R. (Cell 1993)
    2. Overexpression of kinase-associated phosphatase (KAP) in breast and prostate cancer and inhibition of the transformed phenotype by antisense KAP expression. (PubMed id 10669749)1, 2, 9 Lee S.W.... Aaronson S.A. (Mol. Cell. Biol. 2000)
    3. Binding of HTm4 to cyclin-dependent kinase (Cdk)-associated phosphatase (KAP).Cdk2.cyclin A complex enhances the phosphatase activity of KAP, dissociates cyclin A, and facilitates KAP dephosphorylation of Cdk2. (PubMed id 15671017)1, 2, 9 Chinami M.... Adra C.N. (J. Biol. Chem. 2005)
    4. Abolishment of the interaction between cyclin-dependent kinase 2 and Cdk-associated protein phosphatase by a truncated KAP mutant. (PubMed id 12745075)1, 2, 9 Yeh C.-T.... Chao M.-L. (Biochem. Biophys. Res. Commun. 2003)
    5. Chromosomal mapping of the genes for the human cell cycle proteins cyclin C (CCNC), cyclin E (CCNE), p21 (CDKN1) and KAP (CDKN3). (PubMed id 7698009)1, 3, 9 Demetrick D.J....Beach D.H. (Cytogenet. Cell Genet. 1995)
    6. Aberrant transcripts of the cyclin-dependent kinase-associated protein phosphatase in hepatocellular carcinoma. (PubMed id 10987270)1, 2, 9 Yeh C.-T.... Liaw Y.-F. (Cancer Res. 2000)
    7. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    8. Human HTm4 is a hematopoietic cell cycle regulator. (PubMed id 11781350)1, 2 Donato J.-L.... Adra C.N. (J. Clin. Invest. 2002)
    9. Phosphoprotein-protein interactions revealed by the crystal structure of kinase-associated phosphatase in complex with phosphoCDK2. (PubMed id 11463386)1, 2 Song H....Barford D. (Mol. Cell 2001)
    10. Dephosphorylation of Cdk2 Thr160 by the cyclin-dependent kinase- interacting phosphatase KAP in the absence of cyclin. (PubMed id 7569954)1, 2 Poon R.Y.C. and Hunter T. (Science 1995)

    (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: 1033 HGNC: 1791 AceView: CDKN3 Ensembl:ENSG00000100526 euGenes: HUgn1033
    ECgene: CDKN3 H-InvDB: CDKN3

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for CDKN3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CDKN3 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/cdkn3/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CDKN3 gene:
    Search GeneIP for patents involving CDKN3

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



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