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Aliases & Descriptions for CDKN1C
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases BWCR 2 BWS 2 , 5 KIP2 1 , 2 , 3 , 5 OTTHUMP00000011736 2 P57 1 WBS 2 p57 2 p57KIP2 3
Descriptions Beckwith-Wiedemann syndrome 1 Cyclin-dependent kinase inhibitor p57 3 cyclin-dependent kinase inhibitor 1C 2 cyclin-dependent kinase inhibitor 1C (p57, Kip2) 2
Search outside databases for aliases for CDKN1C genePrevious GC identifers: GC11M003372 GC11M003107 GC11M002863 GC11M002869 GC11M002852
Summaries for CDKN1C (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for CDKN1C : The protein encoded by this gene is a tight-binding, strong inhibitor of several G1 cyclin/Cdkcomplexes and a negative regulator of cell proliferation. Mutations in this gene are implicated insporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressorcandidate. Three transcript variants encoding two different isoforms have been found for thisgene. [provided by RefSeq] UniProtKB/Swiss-Prot: CDN1C_HUMAN, P49918 Function : Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2, cyclinD2-CDK4, and cyclin A-CDK2) and, to lesser extent, of the mitotic cyclin B-CDC2. Negativeregulator of cell proliferation. May play a role in maintenance of the non-proliferative statethroughout life
Gene Wiki entry for CDKN1C (Cyclin-dependent_kinase_inhibitor_1C)
Genomic Location for CDKN1C
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the CDKN1C gene 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) GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure
GeneLoc location for GC11M002861:
(about GC identifiers )
Start:
2,861,019 bp from pter
End:
2,863,555 bp from pter
Size:
2,537 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000011.8 NT_009237.17 Proteins for CDKN1C
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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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
Subcellular location : Nucleus (By similarity)Alternative splicing : 2 isoforms : P49918-1 P49918-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (3 alternative transcripts):
NP_000067.1 NP_001116102.1 NP_001116103.1 ENSEMBL proteins: ENSP00000321019 ENSP00000370101 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for CDKN1C: Assays for CDKN1C:
Protein
Domains/ Families for CDKN1C(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P49918 ProtoNet protein and cluster: P49918
1 Blocks protein family : IPB003175 Cyclin-dependent kinase inhibitor UniProtKB/Swiss-Prot: CDN1C_HUMAN, P49918 Similarity : Belongs to the CDI family
Gene Function for CDKN1C
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_000076 Applied Biosystems Silencer ® siRNAs for CDKN1C Sigma-Aldrich siRNA and siRNA Panels for CDKN1C Sigma-Aldrich shRNA Panels and shRNA for CDKN1C Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_000076                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_000076                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_000076  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000076 UniProtKB/Swiss-Prot: CDN1C_HUMAN, P49918 Function : Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2, cyclinD2-CDK4, and cyclin A-CDK2) and, to lesser extent, of the mitotic cyclin B-CDC2. Negativeregulator of cell proliferation. May play a role in maintenance of the non-proliferative statethroughout life
Genatlas biochemistry entry for CDKN1C :cyclin dependent kinases 2 and 4 (CDK2,CDK4) inhibitor,p57 (KIP2),involved in the G1 phasearrest,regulator of cell cycle,critical terminal effector of signal transduction pathways thatcontrol cell differentiation,preferentially expressed from the maternal allele (paternallyimprinted),mutated in familial Beckwith-Wiedemann syndrome or in patients with mosaic paternalisodisomies,controlling differentiation of skeletal muscle and alveoli in the lung in parallelwith P21 and myogenin
15/22 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Cdkn1c) (see all 22
):4 Gene Ontology (GO) molecular function terms (links to tree view) :
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Pathways & Interactions for CDKN1C
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for CDKN1C (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for CDKN1C 2 Interacting proteins for CDKN1C (P49918 1 , 2 ) via UniProtKB, MINT, and/or STRING About this table 5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6
):
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Drugs & Compounds for CDKN1C (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Sigma-Aldrich Small Molecules for CDKN1C:Inhibitor
Browse Tocris compounds for CDKN1C 2 Novoseek chemical compound relationships for CDKN1C gene
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Transcripts for CDKN1C(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_000076 Sigma-Aldrich siRNA and siRNA Panels for CDKN1C Sigma-Aldrich shRNA Panels and shRNA for CDKN1C Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000076 NM_001122630 NM_001122631
REFSEQ mRNAs for CDKN1C gene (3 alternative transcripts): NM_000076.2 NM_001122630.1 NM_001122631.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000076 NM_001122630 NM_001122631
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_000076                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_000076                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_000076  
Additional cDNA sequence: BC039188.1 BC067842.1 CR591638.1 CR605750.1 EU570054.1 U22398.1
7 DOTS entries : DT.451431 DT.91761320 DT.99974957 DT.95211419 DT.100781848 DT.100833529 DT.120680737
24/542 AceView cDNA sequences (see all 542
):AI521194 AW024752 AI978714 CA776846 AW051576 AI033613 BF002322 AI089791 AI458925 R36168 BQ102202 BF196998 BM673714 CD676249 BE675663 T84306 AI149562 AI373334 BQ945970 CA942828 AI220670 W81170 BI439109 CD674854
highest scoring ESTs for CDKN1C :U22398 AI660190 BC067842 BE255483 BF726569 BI439016 BI439076 BI439085 BI918499 BM022003
Unigene Cluster for CDKN1C: Cyclin-dependent kinase inhibitor 1C (p57, Kip2) Hs.106070 [show with all ESTs ] Unigene Representative Sequence: NM_000076 GeneLoc Exon Structure 5 Alternative Splicing Database (ASD) splice patterns (SP) for CDKN1C ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b SP1 :         -   -         SP2 :         -   -         SP3 :                   SP4 :                   SP5 :                  
About this scheme ECgene alternative splicing isoforms for CDKN1C 2 Ensembl transcripts including schematic representations : ENST00000313407
ENST00000380725
Expression for CDKN1C
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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CDKN1C expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for CDKN1C 1 / 2 / 3
11 probe-sets matching CDKN1C gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CCCATCTAGCSOURCE GeneReport for Unigene cluster: Hs.106070 Expression variation in blood from EXPOLDB for CDKN1C
UniProtKB/Swiss-Prot: CDN1C_HUMAN, P49918 Tissue specificity : Expressed in the heart, brain, lung, skeletal muscle, kidney, pancreas andtestis. High levels are seen in the placenta while low levels are seen in the liver
Orthologs for CDKN1C
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for CDKN1C gene from 5 species
About this table Species with no ortholog for CDKN1C ENSEMBL Gene Tree for CDKN1C Paralogs for CDKN1C (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for CDKN1C gene CDKN1A 2 CDKN1B 2
SNPs/Variants for CDKN1C (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for CDKN1C (up to first 250kb)
Disorders & Mutations for CDKN1C
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 600856 disorders : 130650 UniProtKB/Swiss-Prot: CDN1C_HUMAN, P49918
Defects in CDKN1C are a cause of Beckwith-Wiedemann syndrome (BWS) [MIM:130650]. BWS is agenetically heterogeneous disorder characterized by anterior abdominal wall defects includingexomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional lessfrequent complications include specific developmental defects and a predisposition to embryonaltumors Defects in CDKN1C are involved in tumor formation
10/56 Novoseek disease relationships for CDKN1C gene (see all 56
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
beckwith-wiedemann syndrome
94.10
48
8841187 (3), 10862080 (2), 15888726 (2), 16061564 (2) (see all 36 )
hydatidiform mole
73.33
10
15279631 (3), 12823708 (2), 15533819 (1), 17904617 (1) (see all 6 )
embryonal tumor
69.26
1
17638616 (1)
macroglossia
62.56
1
17638616 (1)
wilms tumor
61.81
10
8889507 (4), 9461119 (2), 8640801 (2), 8640800 (1)
carcinoma adrenocortical
52.63
3
9177379 (2)
umbilical hernia
51.71
3
10424811 (1), 11106355 (1), 15999116 (1)
glomerulosclerosis, focal segmental
51.54
2
12631353 (1), 10916090 (1)
omphalocele
50.29
5
17638616 (2), 18395877 (1)
trophoblastic disease
49.13
2
9520940 (1), 15270611 (1)
About this table GeneTests: CDKN1C Beckwith-Wiedemann Syndrome Human Gene Mutation Database : CDKN1C Genetic Association Database: CDKN1C Human Genome Epidemiology Navigator: CDKN1C (6 documents)
Medical News for CDKN1C (Possibly Related Articles in
Doctor's Guide )
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--
Publications for CDKN1C (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/273 PubMed articles for CDKN1C gene (see all 273
): p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene. (PubMed id 7729684) 1, 2, 3, 4 Matsuoka S.... Elledge S.J. (1995) 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, 3, 4 Lam W.W.K.... Maher E.R. (1999) 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, 3, 6 Nielsen E.M....Pedersen O. (2005) Genomic organization of the human p57KIP2 gene and its analysis in the G401 Wilms' tumor assay. (PubMed id 8640800) 1, 3, 4 Reid L.H....Weissman B.E. (1996) 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, 3, 4 Tokino T.... Nakamura Y. (1996) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Alternative mechanisms associated with silencing of CDKN1C in Beckwith-Wiedemann syndrome. (PubMed id 16061564) 1, 3 Diaz-Meyer N....Higgins M.J. (2005) Silencing of imprinted CDKN1C gene expression is associated with loss of CpG and histone H3 lysine 9 methylation at DMR-LIT1 in esophageal cancer. (PubMed id 15007390) 1, 3 Soejima H....Mukai T. (2004) Differential tumor suppressor properties and transforming growth factor-beta responsiveness of p57KIP2 in leukemia cells with aberrant p57KIP2 promoter DNA methylation. (PubMed id 16936778) 1, 3 Kuang S.Q....Garcia-Manero G. (2007) Expression of p57kip2 in germ cells and Leydig cells in human testis. (PubMed id 17050328) 1, 3 Kim S.T....Gye M.C. (2006)
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Genome Databases showing CDKN1C
(According to
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HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing CDKN1C
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-- Services for CDKN1C (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Proteins for CDKN1C
Publications for CDKN1C
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Search Box for CDKN1C
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Summaries for CDKN1C
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009