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Aliases for CDKN1C Gene

Aliases for CDKN1C Gene

  • Cyclin-Dependent Kinase Inhibitor 1C (P57, Kip2) 2 3
  • KIP2 3 4 6
  • Cyclin-Dependent Kinase Inhibitor P57 3 4
  • P57Kip2 3 4
  • BWS 3 6
  • Cyclin-Dependent Kinase Inhibitor 1C 3
  • Beckwith-Wiedemann Syndrome 2
  • IMAGE 6
  • BWCR 3
  • WBS 3
  • P57 3

External Ids for CDKN1C Gene

Previous HGNC Symbols for CDKN1C Gene

  • BWCR
  • BWS

Previous GeneCards Identifiers for CDKN1C Gene

  • GC11M003372
  • GC11M003107
  • GC11M002863
  • GC11M002869
  • GC11M002852
  • GC11M002861
  • GC11M002692

Summaries for CDKN1C Gene

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 image syndrome and beckwith-wiedemann syndrome due to cdkn1c mutation. Among its related pathways are Endochondral Ossification and Cell Cycle / Checkpoint Control. 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 for CDKN1C Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDKN1C Gene

Genomics for CDKN1C Gene

Regulatory Elements for CDKN1C Gene

Genomic Location for CDKN1C Gene

Start:
2,883,213 bp from pter
End:
2,885,881 bp from pter
Size:
2,669 bases
Orientation:
Minus strand

Genomic View for CDKN1C Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CDKN1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDKN1C Gene

Proteins for CDKN1C Gene

  • Protein details for CDKN1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49918-CDN1C_HUMAN
    Recommended name:
    Cyclin-dependent kinase inhibitor 1C
    Protein Accession:
    P49918
    Secondary Accessions:

    Protein attributes for CDKN1C Gene

    Size:
    316 amino acids
    Molecular mass:
    32177 Da
    Quaternary structure:
    • Interacts with PCNA.

    Alternative splice isoforms for CDKN1C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDKN1C Gene

Proteomics data for CDKN1C Gene at MOPED

Post-translational modifications for CDKN1C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CDKN1C Gene

No data available for DME Specific Peptides for CDKN1C Gene

Domains for CDKN1C Gene

Protein Domains for CDKN1C Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CDKN1C Gene

Graphical View of Domain Structure for InterPro Entry

P49918

UniProtKB/Swiss-Prot:

CDN1C_HUMAN :
  • P49918
Family:
  • Belongs to the CDI family.
genes like me logo Genes that share domains with CDKN1C: view

No data available for Gene Families for CDKN1C Gene

Function for CDKN1C Gene

Molecular function for CDKN1C Gene

GENATLAS Biochemistry: 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
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for CDKN1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004861 cyclin-dependent protein serine/threonine kinase inhibitor activity IEA --
GO:0005515 protein binding IPI 16289477
genes like me logo Genes that share ontologies with CDKN1C: view
genes like me logo Genes that share phenotypes with CDKN1C: view

Animal Models for CDKN1C Gene

MGI Knock Outs for CDKN1C:

miRNA for CDKN1C Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CDKN1C Gene

Localization for CDKN1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDKN1C Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CDKN1C Gene COMPARTMENTS Subcellular localization image for CDKN1C gene
Compartment Confidence
nucleus 4
cytosol 3
extracellular 2
cytoskeleton 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CDKN1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16943770
GO:0005737 cytoplasm IDA 16943770
genes like me logo Genes that share ontologies with CDKN1C: view

Pathways for CDKN1C Gene

genes like me logo Genes that share pathways with CDKN1C: view

Pathways by source for CDKN1C Gene

1 Cell Signaling Technology pathway for CDKN1C Gene
2 BioSystems pathways for CDKN1C Gene
1 KEGG pathway for CDKN1C Gene
1 GeneGo (Thomson Reuters) pathway for CDKN1C Gene

Gene Ontology (GO) - Biological Process for CDKN1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001501 skeletal system development IEA --
GO:0001822 kidney development IEA --
GO:0001890 placenta development --
GO:0007050 cell cycle arrest IEA --
genes like me logo Genes that share ontologies with CDKN1C: view

Compounds for CDKN1C Gene

(6) Novoseek inferred chemical compound relationships for CDKN1C Gene

Compound -log(P) Hits PubMed IDs
5-aza-2deoxycytidine 61.4 7
tetracycline 16.2 5
cholesterol 3.76 1
acth 0 1
cycloheximide 0 2
genes like me logo Genes that share compounds with CDKN1C: view

Transcripts for CDKN1C Gene

Unigene Clusters for CDKN1C Gene

Cyclin-dependent kinase inhibitor 1C (p57, Kip2):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CDKN1C Gene

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

Relevant External Links for CDKN1C Gene

GeneLoc Exon Structure for
CDKN1C
ECgene alternative splicing isoforms for
CDKN1C

Expression for CDKN1C Gene

mRNA expression in normal human tissues for CDKN1C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CDKN1C Gene

This gene is overexpressed in Adrenal Gland (4.6) and Ovary (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CDKN1C Gene

SOURCE GeneReport for Unigene cluster for CDKN1C Gene Hs.106070

mRNA Expression by UniProt/SwissProt for CDKN1C Gene

P49918-CDN1C_HUMAN
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.
genes like me logo Genes that share expressions with CDKN1C: view

Orthologs for CDKN1C Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CDKN1C Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CDKN1C 36
  • 56 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cdkn1c 16
Cdkn1c 36
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 24 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 31 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii cdkn1c 36
  • 27 (a)
OneToMany
CDKN1C (2 of 2) 36
  • 28 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.37927 35
Species with no ortholog for CDKN1C:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CDKN1C Gene

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

Paralogs for CDKN1C Gene

Paralogs for CDKN1C Gene

Selected SIMAP similar genes for CDKN1C Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CDKN1C: view

Variants for CDKN1C Gene

Sequence variations from dbSNP and Humsavar for CDKN1C Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs13563 -- 2,883,770(-) GAAAA(C/T)TGTGC utr-variant-3-prime
rs371264 -- 2,884,638(+) gccgg(C/G)ccggg intron-variant
rs372633 -- 2,885,014(+) ccggg(A/G)ccggg reference, missense, intron-variant
rs384713 -- 2,884,929(+) gccgg(A/G)gccgg synonymous-codon, reference, intron-variant
rs385101 -- 2,885,038(+) ccggg(A/G)ctggg missense, reference, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CDKN1C Gene

Variant ID Type Subtype PubMed ID
dgv333e1 CNV Complex 17122850
dgv1006n71 CNV Loss 21882294
nsv469930 CNV Loss 18288195
dgv1007n71 CNV Loss 21882294
dgv1008n71 CNV Loss 21882294
nsv825715 CNV Gain 20364138
nsv467655 CNV Loss 19166990
dgv1009n71 CNV Loss 21882294
nsv832050 CNV Loss 17160897
nsv467657 CNV Loss 19166990
nsv896864 CNV Loss 21882294
dgv1010n71 CNV Loss 21882294

Relevant External Links for CDKN1C Gene

HapMap Linkage Disequilibrium report
CDKN1C
Human Gene Mutation Database (HGMD)
CDKN1C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDKN1C Gene

Disorders for CDKN1C Gene

(2) OMIM Diseases for CDKN1C Gene (600856)

UniProtKB/Swiss-Prot

CDN1C_HUMAN
  • 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. {ECO:0000269 PubMed:10424811}. 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. {ECO:0000269 PubMed:22634751}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in CDKN1C are involved in tumor formation.

(59) Novoseek inferred disease relationships for CDKN1C Gene

Disease -log(P) Hits PubMed IDs
beckwith-wiedemann syndrome 94 44
hydatidiform mole 75.3 11
macroglossia 70.8 2
embryonal tumor 67.7 1
wilms tumor 61.6 9

Relevant External Links for CDKN1C

GeneTests
CDKN1C
GeneReviews
CDKN1C
Genetic Association Database (GAD)
CDKN1C
Human Genome Epidemiology (HuGE) Navigator
CDKN1C
genes like me logo Genes that share disorders with CDKN1C: view

Publications for CDKN1C Gene

  1. p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene. (PMID: 7729684) Matsuoka S. … Elledge S.J. (Genes Dev. 1995) 2 3 4 23
  2. Genomic organization of the human p57KIP2 gene and its analysis in the G401 Wilms' tumor assay. (PMID: 8640800) Reid L.H. … Weissman B.E. (Cancer Res. 1996) 3 4 23
  3. Analysis of germline CDKN1C (p57-KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype- phenotype correlation. (PMID: 10424811) Lam W.W.K. … Maher E.R. (J. Med. Genet. 1999) 3 4 23
  4. Characterization of the human p57KIP2 gene: alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis. (PMID: 8655143) Tokino T. … Nakamura Y. (Hum. Genet. 1996) 3 4 23
  5. 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. (PMID: 15821902) Nielsen E.M. … Pedersen O. (J. Mol. Med. 2005) 3 23 48

Products for CDKN1C Gene

Sources for CDKN1C Gene

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