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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CDKN1C Gene

protein-coding GIFtS: 68
GCID: GC11M002904

cyclin-dependent kinase inhibitor 1C (p57, Kip2)

(Previous name: Beckwith-Wiedemann syndrome )
(Previous symbols: BWCR, BWS)

Explore 83 diseases affiliated with
CDKN1C via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cyclin-Dependent Kinase Inhibitor 1C (P57, Kip2)¹ ²		P57¹
KIP2¹ ² ³ ⁵		Beckwith-Wiedemann Syndrome¹
BWS¹ ² ⁵		WBS²
BWCR¹ ²		Cyclin-Dependent Kinase Inhibitor 1C²
Cyclin-Dependent Kinase Inhibitor P57² ³		P57¹
P57Kip2¹

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CDKN1C:

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)

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)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_009237.18

Regulatory elements:

SABiosciences 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 plasmid: CDKN1C promoter sequence

Search SABiosciences Chromatin IP Primers for CDKN1C

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CDN1C_HUMAN, P49918 (See protein sequence)

Recommended Name: Cyclin-dependent kinase inhibitor 1C

Size: 316 amino acids; 32177 Da

Subunit: Interacts with PCNA

Subcellular location: Nucleus (By similarity)

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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P49918

CDKN1C Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_000067.1 NP_001116102.1 NP_001116103.1

ENSEMBL proteins:

ENSP00000370101 ENSP00000413720 ENSP00000411257 ENSP00000411552 ENSP00000321019

Human Recombinant Protein Products for CDKN1C:

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	Uscn Proteins for CDKN1C

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--

CDKN1C for ontologies About GeneDecksing

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	GenScript CDKN1C-Activity-based Kinase Assay for Compound Screening
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	Uscn ELISAs and CLIAs for CDKN1C

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

CDKN1C for domains About GeneDecksing

1 InterPro domain/family:

IPR003175 CDI

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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 (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004861	cyclin-dependent protein kinase inhibitor activity	IEA	--
GO:0005515	protein binding	IPI	--

CDKN1C for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for CDKN1C:

Increased mitotic index

15/21 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	hematopoietic system	homeostasis/metabolism
immune system	limbs/digits/tail	mortality/aging	muscle	nervous system

CDKN1C for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for CDKN1C: Cdkn1c^tm1Kat Cdkn1c^tm1Bbd Cdkn1c^tm1Sje

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CDKN1C

miRNA Products:		miRTarBase miRNAs that target CDKN1C: hsa-mir-25 (MIRT004317), hsa-mir-222 (MIRT000719), hsa-mir-92b (MIRT004293), hsa-mir-221 (MIRT002272)

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		8/45 QIAGEN miScript miRNA 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 plasmid: CDKN1C 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDKN1C

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Transcription_Role of VDR in regulation of genes involved in osteoporosis

Transcription_Role of VDR in regulation of genes involved in osteoporosis

1.00

Transcription Role of VDR in regulation of genes involved in osteoporosis

0.80

Cell cycle

Cell cycle

0.57

G1 to S cell cycle control

0.38

Cell Cycle / Checkpoint Control

Cell Cycle / Checkpoint Control

1.00

Endochondral Ossification

Endochondral Ossification

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for CDKN1C

Transcription Role of VDR in regulation of genes involved in osteoporosis

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

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CDKN1C

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

5/27 Interacting proteins for CDKN1C (P49918^{2, 3} ENSP00000413720⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 27)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FBXL12	Q9NXK8²^,³, ENSP00000247977⁴	MINT-6804035 MINT-6804015 MINT-6803987 MINT-6804000 MINT-6803975 MINT-6804091 I2D: score=2 STRING: ENSP00000247977
MCM7	P33993²^,³, ENSP00000307288⁴	MINT-1780021 MINT-1779972 I2D: score=1 STRING: ENSP00000307288
CDK4	P11802³, ENSP00000257904⁴	I2D: score=3 STRING: ENSP00000257904
LIMK1	P53667³, ENSP00000336740⁴	I2D: score=3 STRING: ENSP00000336740
PCNA	P12004³, ENSP00000368438⁴	I2D: score=3 STRING: ENSP00000368438

About this table

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000079	regulation of cyclin-dependent protein kinase activity	TAS	7729684
GO:0000080	G1 phase of mitotic cell cycle	TAS	7729684
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	--
GO:0001890	placenta development	IEA	--
GO:0007050	cell cycle arrest	IEA	--

CDKN1C for ontologies About GeneDecksing

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

CDKN1C for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CDKN1C
6 Novoseek 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)

Search CenterWatch for drugs/clinical trials and news about CDKN1C / CDN1C

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for 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

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		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

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Additional cDNA 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

24/542 AceView cDNA sequences (see all 542):

BM052875 AI185654 BQ129172 BE644880 AI887539 AI089791 AI676118 AW663969

BF002322 CA776846 AI276957 AW026840 AI572236 BQ102317 BQ945970 BF431718

AI493174 BM725115 AI978714 AI339690 BU790001 AI220670 BM707815 R82678

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CDKN1C expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCATCTAGC

About this image

CDKN1C expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

8 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Ganglion Cell Layer

Cholinergic Amacrine Cells

Amacrine, Retina

Eye

Ganglion Cell Layer

Displaced Amacrine Cells

Amacrine, Retina

Eye

Inner Nuclear Layer

Cholinergic Amacrine Cells

Amacrine, Retina

Eye

Inner Nuclear Layer

GABAergic Amacrine Cells

Amacrine, Retina

Kidney

Endocardial Tube Cells

Endocardium

Pancreas

Dorsal Pancreatic Bud

Immature Beta Progenitor Cells

Pancreas

Ventral Pancreatic Bud

Immature Beta Progenitor Cells

Pancreas

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)

Syncytiotrophoblast-like cells (Generation of syncyt...)

See CDKN1C Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CDKN1C

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

SABiosciences Expression via Pathway-Focused 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

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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)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for CDKN1C gene from 2/5 species (see all 5) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
zebrafish (Danio rerio)	Actinopterygii	cdkn1c¹	cyclin-dependent kinase inhibitor 1C	50.26(n) 40(a)		399483 NM_001002040.1 NP_001002040.1
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)
About This Section

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, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs267606716^1,2	C	pathogenic	2905340(-)	`GAGATA/C/GAGCGC`	9	* S	stg¹		0	--	--	--	--
rs104894200^1,2	C	pathogenic	2905980(-)	`GATTTA/CGGGAC`	6	* S	stg¹		0	--	--	--	--
rs115414892^1,2	C,F	--	2903957(+)	`AGACCT/CAGGGA`	3	--	ds500¹		1		WA	118
rs393572^1,2	C	--	2904010(+)	`AAGAAG/ATCTGG`	3	--	ds500¹		2		NA	4
rs112762165^1,2		--	2904162(+)	`GGGCTG/ATGCTC`	3	--	ds500¹		2		CSA WA	120
rs12293538^1,2	C,F	--	2904183(+)	`GGGGCT/CACATG`	3	--	ds500¹		6		NA WA EA	364
rs140800911^1,2		--	2904374(+)	`TCCTGC/TGTTCC`	3	--	ds500¹		0	--	--	--	--
rs114261594^1,2	C,F	--	2904436(+)	`GCACAA/GACAGA`	3	--	ds500¹		1		WA	118
rs13563^1,2	C,H	--	2905000(-)	`GAAAAC/TTGTGC`	3	--	ut3¹		3		MN NS NA	472
rs34289096^1,2	C	--	2905203(+)	`CCGCG-/CCCCCC`	3	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CDKN1C (2904443 - 2907111 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for CDKN1C
4 CNVs: 29898 29899 3832 4730
Human Gene Mutation Database (HGMD): CDKN1C

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CDKN1C for disorders           About GeneDecksing

OMIM gene information: 600856
OMIM disorders: 130650
UniProtKB/Swiss-Prot: CDN1C_HUMAN, P49918

Defects in CDKN1C are a cause of Beckwith-Wiedemann syndrome (BWS) [MIM:130650]. BWS is a genetically

heterogeneous 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

Defects in CDKN1C are the cause of 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=Defects in CDKN1C are involved in tumor formation

20/83 diseases for CDKN1C (see all 83): About MalaCards

beckwith-wiedemann syndrome silver-russell syndrome abdominal wall defect diffuse large b-cell lymphoma

focal segmental glomerulosclerosis gestational trophoblastic neoplasm trophoblastic neoplasm b-cell lymphomas

macroglossia hemihypertrophy bile duct carcinoma soft tissue sarcoma

type 2 diabetes mellitus multiple endocrine neoplasia adult acute lymphocytic leukemia adrenal adenoma

acute lymphocytic leukemia lymphocytic leukemia glomerulosclerosis angelman syndrome

4 diseases from the University of Copenhagen DISEASES database for CDKN1C:

Beckwith-Wiedemann syndrome Gestational trophoblastic neoplasm Silver-Russell syndrome Nephroblastoma

10/59 Novoseek 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

Beckwith-Wiedemann Syndrome

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

PubMed articles for CDKN1C gene, integrated from 9 sources (see all 334):
(articles sorted by number of sources associating them with CDKN1C)

Utopia: connect your pdf to the dynamic
world of online information

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. (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, 2, 9} 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, 4, 9} 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, 2, 9} 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, 2, 9} Tokino T.... Nakamura Y. (1996)
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. (PubMed id 22634751)^{1, 2} Arboleda V.A.... Vilain E. (2012)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
CDKN1C negatively regulates RNA polymerase II C-termi nal domain phosphorylation in an E2F1-dependent manner. (PubMed id 20106982)^{1, 9} Ma Y....Cress W.D. (2010)
Diagnosis and subclassification of hydatidiform moles using p57 immunohistochemistry and molecular genotyping: validation and prospective analysis in routine and consultation practice settings with development of an algorithmic approach. (PubMed id 19145201)^{1, 9} McConnell T.G....Ronnett B.M. (2009)
Alternative mechanisms associated with silencing of CDKN1C in Beckwith-Wiedemann syndrome. (PubMed id 16061564)^{1, 9} Diaz-Meyer N....Higgins M.J. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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)
About This Section

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

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CDKN1C	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CDKN1C	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CDKN1C

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CDKN1C Gene

cyclin-dependent kinase inhibitor 1C (p57, Kip2)

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CDKN1C Gene

cyclin-dependent kinase inhibitor 1C (p57, Kip2)

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