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CDKN1C Gene

protein-coding   GIFtS: 67
GCID: GC11M002904

Cyclin-Dependent Kinase Inhibitor 1C (P57, Kip2)

(Previous name: Beckwith-Wiedemann syndrome)
(Previous symbols: BWCR, BWS)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cyclin-Dependent Kinase Inhibitor 1C (P57, Kip2)1 2     Beckwith-Wiedemann Syndrome1
BWS1 2 5     WBS2
KIP22 3 5     Cyclin-Dependent Kinase Inhibitor 1C2
BWCR1 2     p572
Cyclin-Dependent Kinase Inhibitor P572 3     IMAGE5
p57Kip22 3     

External Ids:    HGNC: 17861   Entrez Gene: 10282   Ensembl: ENSG000001297577   OMIM: 6008565   UniProtKB: P499183   

Export aliases for CDKN1C gene to outside databases

Previous GC identifers: GC11M003372 GC11M003107 GC11M002863 GC11M002869 GC11M002852 GC11M002861 GC11M002692


(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 CDKN1C Gene:
This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a
tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell
proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome,
suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different
isoforms have been found for this gene. (provided by RefSeq, Oct 2010)

GeneCards Summary for CDKN1C Gene:
CDKN1C (cyclin-dependent kinase inhibitor 1C (p57, Kip2)) is a protein-coding gene. Diseases associated with CDKN1C include beckwith-wiedemann syndrome due to cdkn1c mutation, and intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. GO annotations related to this gene include cyclin-dependent protein serine/threonine kinase inhibitor activity. An important paralog of this gene is CDKN1A.

UniProtKB/Swiss-Prot: CDN1C_HUMAN, P49918
Function: Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2, cyclin D2-CDK4, and
cyclin A-CDK2) and, to lesser extent, of the mitotic cyclin B-CDC2. Negative regulator of cell proliferation. May
play a role in maintenance of the non-proliferative state throughout life

Gene Wiki entry for CDKN1C (Cyclin-dependent kinase inhibitor 1C) 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_000011.10  NT_009237.19  NT_187585.1  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CDKN1C gene promoter:
         NF-1   NF-1/L   Pax-5   NCX/Ncx   FOXD1   POU6F1 (c2)   Evi-1   E47   SRY   c-Rel   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCDKN1C promoter sequence
   Search Chromatin IP Primers for CDKN1C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CDKN1C


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

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15.5

CDKN1C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDKN1C gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M002904:  view genomic region     (about GC identifiers)

Start:
2,904,443 bp from pter      End:
2,907,111 bp from pter
Size:
2,669 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CDN1C_HUMAN, P49918 (See protein sequence)
Recommended Name: Cyclin-dependent kinase inhibitor 1C  
Size: 316 amino acids; 32177 Da
Subunit: Interacts with PCNA
Developmental stage: Expressed within a subset of cells in the subcapsular or developing definitive zone of the
adrenal gland
Alternative splicing: 2 isoforms:  P49918-1   P49918-2   

Explore the universe of human proteins at neXtProt for CDKN1C: NX_P49918

Explore proteomics data for CDKN1C at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CDKN1C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000067.1  NP_001116102.1  NP_001116103.1  

    ENSEMBL proteins: 
     ENSP00000370101   ENSP00000413720   ENSP00000411257   ENSP00000411552   ENSP00000321019  

    CDKN1C Human Recombinant Protein Products:

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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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    1 InterPro protein domain:
     IPR003175 CDI

    Graphical View of Domain Structure for InterPro Entry P49918

    ProtoNet protein and cluster: P49918

    1 Blocks protein domain: IPB003175 Cyclin-dependent kinase inhibitor

    UniProtKB/Swiss-Prot: CDN1C_HUMAN, P49918
    Similarity: Belongs to the CDI family


    CDKN1C 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: CDN1C_HUMAN, P49918
    Function: Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2, cyclin D2-CDK4, and
    cyclin A-CDK2) and, to lesser extent, of the mitotic cyclin B-CDC2. Negative regulator of cell proliferation. May
    play a role in maintenance of the non-proliferative state throughout life

         Genatlas biochemistry entry for CDKN1C:
    cyclin dependent kinases 2 and 4 (CDK2,CDK4) inhibitor,p57 (KIP2),involved in the G1 phase arrest,regulator of
    cell cycle,critical terminal effector of signal transduction pathways that control cell
    differentiation,preferentially expressed from the maternal allele (paternally imprinted),mutated in familial
    Beckwith-Wiedemann syndrome or in patients with mosaic paternal isodisomies,controlling differentiation of
    skeletal muscle and alveoli in the lung in parallel with P21 and myogenin

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004861cyclin-dependent protein serine/threonine kinase inhibitor activity IEA--
    GO:0005515protein binding IPI16289477
         
    CDKN1C for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CDKN1C:
     Increased mitotic index 

         Selected MGI mutant phenotypes (inferred from 5 alleles(MGI details for Cdkn1c) (see all 21):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  limbs/digits/tail  mortality/aging  muscle  nervous system 

    CDKN1C for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CDKN1C: Cdkn1ctm1Kat Cdkn1ctm1Bbd Cdkn1ctm1Sje

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CDKN1C
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CDKN1C
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CDKN1C

    miRNA
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    miRTarBase miRNAs that target CDKN1C:
    hsa-mir-335-5p (MIRT018103), hsa-mir-25-3p (MIRT004317), hsa-mir-222-3p (MIRT000719), hsa-mir-92b-3p (MIRT004293), hsa-mir-221-3p (MIRT002272)

    Block miRNA regulation of human, mouse, rat CDKN1C using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CDKN1C (see all 45):
    hsa-miR-4291 hsa-miR-25 hsa-let-7a-2* hsa-miR-449a hsa-miR-507 hsa-miR-4325 hsa-miR-761 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidCDKN1C 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CDKN1C

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDKN1C


    (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
    CDN1C_HUMAN, P49918: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol3
    extracellular2
    cytoskeleton1
    mitochondrion1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16943770
    GO:0005737cytoplasm IDA16943770

    CDKN1C 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 CDKN1C About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cell cycle
    Cell cycle0.59
    2E2F mediated regulation of DNA replication
    G1 to S cell cycle control0.35
    3Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control0.32
    4Transcription Role of VDR in regulation of genes involved in osteoporosis
    Transcription Role of VDR in regulation of genes involved in osteoporosis
    5Endochondral Ossification
    Endochondral Ossification

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for CDKN1C
        Cell Cycle / Checkpoint Control

    1 GeneGo (Thomson Reuters) Pathway for CDKN1C
        Transcription Role of VDR in regulation of genes involved in osteoporosis

    2 BioSystems Pathways for CDKN1C
        G1 to S cell cycle control
    Endochondral Ossification


    1 Kegg Pathway  (Kegg details for CDKN1C):
        Cell cycle


    CDKN1C for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CDKN1C (see all 6): 
              Lung Cancer in human mouse rat
              Leukemia in human mouse rat
              Breast Cancer in human mouse rat
              Lymphoma in human mouse rat
              Cellular Senescence in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CDKN1C

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

    Selected Interacting proteins for CDKN1C (P499181, 2, 3 ENSP000004137204) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FBXL12Q9NXK81, 2, 3, ENSP000002479774EBI-519256,EBI-719790 MINT-6804035 MINT-6804015 MINT-6803987 MINT-6804000 MINT-6803975 MINT-6804091 I2D: score=2 STRING: ENSP00000247977
    MCM7P339931, 2, 3, ENSP000003072884EBI-519256,EBI-355924 MINT-1780021 MINT-1779972 I2D: score=1 STRING: ENSP00000307288
    CDK4P118023, ENSP000002579044I2D: score=3 STRING: ENSP00000257904
    LIMK1P536673, ENSP000003367404I2D: score=3 STRING: ENSP00000336740
    PCNAP120043, ENSP000003684384I2D: score=3 STRING: ENSP00000368438
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000079regulation of cyclin-dependent protein serine/threonine kinase activity TAS7729684
    GO:0000080mitotic G1 phase TAS7729684
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001890placenta development IEA--
    GO:0007050cell cycle arrest IEA--

    CDKN1C 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 CDKN1C (CDN1C)

    6 Novoseek inferred chemical compound relationships for CDKN1C gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aza-2'deoxycytidine 61.4 9 10667572 (3), 20512841 (1), 11965547 (1), 15551363 (1) (see all 5)
    tetracycline 16.2 7 10551775 (2), 15294951 (1), 10980131 (1), 15332324 (1)
    cholesterol 3.76 1 14551533 (1)
    acth 0 1 9177379 (1)
    cycloheximide 0 2 17173074 (1), 11911242 (1)
    doxycycline 0 2 10551775 (1), 15332324 (1)



    CDKN1C 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,
    Conferences by KenesGroup, 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 CDKN1C gene (3 alternative transcripts): 
    NM_000076.2  NM_001122630.1  NM_001122631.1  

    Unigene Cluster for CDKN1C:

    Cyclin-dependent kinase inhibitor 1C (p57, Kip2)
    Hs.106070  [show with all ESTs]
    Unigene Representative Sequence: NM_000076
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380725 ENST00000414822(uc001lws.4 uc001lwr.4) ENST00000440480(uc001lwu.4 uc009ydr.3)
    ENST00000430149 ENST00000471157 ENST00000313407
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Selected qRT-PCR Assays for microRNAs that regulate CDKN1C (see all 45):
    hsa-miR-4291 hsa-miR-25 hsa-let-7a-2* hsa-miR-449a hsa-miR-507 hsa-miR-4325 hsa-miR-761 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidCDKN1C 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat CDKN1C
      QuantiFast Probe-based Assays in human, mouse, rat CDKN1C

    Additional mRNA sequence: 

    BC039188.1 BC067842.1 EU570054.1 U22398.1 

    7 DOTS entries:

    DT.451431  DT.91761320  DT.99974957  DT.95211419  DT.100781848  DT.100833529  DT.120680737 

    Selected AceView cDNA sequences (see all 542):

    BM052875 AI148764 AW612762 AI276957 AI081986 CR605750 BQ129172 AI189545 
    BE675663 AW051576 BF435897 AI828088 AW026840 AI204364 AI660190 BM504587 
    BM673714 BM354034 BQ102202 AI149131 BX458728 BX400977 BF732866 CD674854 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CDKN1C    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b
    SP1:                          -     -                     
    SP2:                          -     -                     
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for CDKN1C

    (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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    CDKN1C expression in normal human tissues (normalized intensities)      CDKN1C embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCATCTAGC
    CDKN1C Expression
    About this image


    CDKN1C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Eye (Sensory Organs)    fully expand to see all 6 entries
             Anterior Lens Epithelial Cells Lens
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Membranous Facial Bones
             Chondrocyte-like cells
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Neurons
             Displaced Amacrine Cells Ganglion Cell Layer
    CDKN1C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CDKN1C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.106070

    UniProtKB/Swiss-Prot: CDN1C_HUMAN, P49918
    Tissue specificity: Expressed in the heart, brain, lung, skeletal muscle, kidney, pancreas and testis. Expressed
    in the eye. High levels are seen in the placenta while low levels are seen in the liver

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CDKN1C (see all 6): 
              Lung Cancer in human mouse rat
              Leukemia in human mouse rat
              Breast Cancer in human mouse rat
              Lymphoma in human mouse rat
              Cellular Senescence in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDKN1C

    (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 CDKN1C gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdkn1c5 cyclin-dependent kinase inhibitor 1C (P57)   --   7 (88.22 cM) 143458350 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    24(a)
    many ↔ many
    1(72202218-72208823) ENSGALG00000026896
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    31(a)
    many ↔ many
    GL343579.1(423622-424189)
    zebrafish
    (Danio rerio)
    Actinopterygii CDKN1C (2 of 2)6
    cdkn1c6
    cyclin-dependent kinase inhibitor 1C
    28(a)
    27(a)
    1 ↔ many
    1 ↔ many
    25(7783419-7784683) ENSDARG00000089854
    7(50120652-50124044) ENSDARG00000010878
    rice
    (Oryza sativa)
    Liliopsida Os.379272 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 68.67(n)    AK100437.1 


    ENSEMBL Gene Tree for CDKN1C (if available)
    TreeFam Gene Tree for CDKN1C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CDKN1C gene
    CDKN1A2  CDKN1B2  
    3 SIMAP similar genes for CDKN1C using alignment to 3 protein entries:     CDN1C_HUMAN (see all proteins):
    p27 kip1    CDKN1A    CDKN1B

    CDKN1C 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 CDKN1C (see all 92)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0688494
    Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)4--see VAR_0688492 F S mis40--------
    VAR_0688514
    Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)4--see VAR_0688512 K E mis40--------
    VAR_0688504
    Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)4--see VAR_0688502 F V mis40--------
    VAR_0688484
    Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)4--see VAR_0688482 D N mis40--------
    VAR_0688524
    Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)4--see VAR_0688522 R P mis40--------
    rs1048942001,2
    Cpathogenic12905980(-) GATTTA/CGGGAC 6 * S stg10--------
    rs2676067161,2
    Cuntested12905340(-) GAGATA/C/GAGCGC 9 * S stg10--------
    rs1154148921,2
    C,F--2903957(+) AGACCT/CAGGGA 3 -- ds50011Minor allele frequency- C:0.11WA 118
    rs3935721,2
    C--2904010(+) AAGAAG/ATCTGG 3 -- ds50012Minor allele frequency- A:0.00NA 4
    rs1127621651,2
    F--2904162(+) GGGCTG/ATGCTC 3 -- ds50012Minor allele frequency- A:0.03CSA WA 120

    HapMap Linkage Disequilibrium report for CDKN1C (2904443 - 2907111 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CDKN1C (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv467655CNV Loss19166990
    dgv1010n71CNV Loss21882294
    nsv832050CNV Loss17160897
    dgv1006n71CNV Loss21882294
    nsv469930CNV Loss18288195
    dgv1007n71CNV Loss21882294
    dgv1009n71CNV Loss21882294
    dgv1008n71CNV Loss21882294
    nsv896864CNV Loss21882294
    nsv467657CNV Loss19166990

    Human Gene Mutation Database (HGMD): CDKN1C
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CDKN1C
    DNA2.0 Custom Variant and Variant Library Synthesis for CDKN1C

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600856   
    OMIM disorders: 130650  614732  
    UniProtKB/Swiss-Prot: CDN1C_HUMAN, P49918
  • Beckwith-Wiedemann syndrome (BWS) [MIM:130650]: A disorder characterized by anterior abdominal wall
    defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less
    frequent complications include specific developmental defects and a predisposition to embryonal tumors. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital
    anomalies (IMAGE) [MIM:614732]: A rare condition characterized by intrauterine growth restriction, metaphyseal
    dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly
    after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and
    commenced on steroid replacement therapy. Other reported features in this condition include, hypercalciuria
    and/or hypercalcemia, craniosynostosis, cleft palate, and scoliosis. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Note=Defects in CDKN1C are involved in tumor formation

  • Selected diseases for CDKN1C (see all 88):    About MalaCards
    beckwith-wiedemann syndrome due to cdkn1c mutation    intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies    image syndrome    macroglossia
    abdominal wall defect    beckwith-wiedemann syndrome    partial hydatidiform mole    omphalocele
    trophoblastic neoplasm    adult acute lymphocytic leukemia    bile duct carcinoma    gestational trophoblastic neoplasm
    hemihypertrophy    silver-russell syndrome    adrenal adenoma    hepatoblastoma
    acute lymphocytic leukemia    retinopathy of prematurity    focal segmental glomerulosclerosis    nephroblastoma

    4 diseases from the University of Copenhagen DISEASES database for CDKN1C:
    Beckwith-Wiedemann syndrome     Gestational trophoblastic neoplasm     Silver-Russell syndrome     Nephroblastoma

    CDKN1C for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for CDKN1C gene (see all 59)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    beckwith-wiedemann syndrome 94 51 8841187 (3), 10862080 (2), 15888726 (2), 16061564 (2) (see all 38)
    hydatidiform mole 75.3 12 15279631 (3), 12823708 (2), 15533819 (1), 17904617 (1) (see all 8)
    macroglossia 70.8 2 20503313 (1), 17638616 (1)
    embryonal tumor 67.7 1 17638616 (1)
    wilms tumor 61.6 10 8889507 (4), 9461119 (2), 8640801 (2), 8640800 (1)
    hemihypertrophy 61.2 3 20503313 (1), 17638616 (1), 15999116 (1)
    omphalocele 58.4 6 17638616 (2), 20503313 (1), 18395877 (1)
    carcinoma adrenocortical 50.6 3 9177379 (2)
    umbilical hernia 49.6 3 10424811 (1), 11106355 (1), 15999116 (1)
    glomerulosclerosis, focal segmental 49.4 2 12631353 (1), 10916090 (1)

    GeneTests: CDKN1C
    GeneReviews: CDKN1C
    Genetic Association Database (GAD): CDKN1C
    Human Genome Epidemiology (HuGE) Navigator: CDKN1C (13 documents)

    Export disorders for CDKN1C gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for CDKN1C gene, integrated from 10 sources (see all 350):
    (articles sorted by number of sources associating them with CDKN1C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene. (PubMed id 7729684)1, 2, 3, 9 Matsuoka S.... Elledge S.J. (Genes Dev. 1995)
    2. Analysis of germline CDKN1C (p57-KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype- phenotype correlation. (PubMed id 10424811)1, 2, 9 Lam W.W.K.... Maher E.R. (J. Med. Genet. 1999)
    3. Studies of variations of the cyclin-dependent kinase inhibitor 1C and the cyclin-dependent kinase 4 genes in relation to type 2 diabetes mellitus and related quantitative traits. (PubMed id 15821902)1, 4, 9 Nielsen E.M....Pedersen O. (J. Mol. Med. 2005)
    4. Role of the CDKN1A/p21, CDKN1C/p57, and CDKN2A/p16 genes in the risk of atherosclerosis and myocardial infarction. (PubMed id 17351341)1, 4, 9 RodrA-guez I....MorA-s C. (Cell Cycle 2007)
    5. Genomic organization of the human p57KIP2 gene and its analysis in the G401 Wilms' tumor assay. (PubMed id 8640800)1, 2, 9 Reid L.H....Weissman B.E. (Cancer Res. 1996)
    6. Characterization of the human p57KIP2 gene: alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis. (PubMed id 8655143)1, 2, 9 Tokino T.... Nakamura Y. (Hum. Genet. 1996)
    7. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. (PubMed id 22634751)1, 2 Arboleda V.A.... Vilain E. (Nat. Genet. 2012)
    8. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    9. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    10. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (Respir Med 2009)

    (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: 1028 HGNC: 1786 AceView: CDKN1C Ensembl:ENSG00000129757 euGenes: HUgn1028
    ECgene: CDKN1C Kegg: 1028 H-InvDB: CDKN1C

    (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 CDKN1C Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CDKN1C Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CDKN1C[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 CDKN1C gene:
    Search GeneIP for patents involving CDKN1C

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



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