CDKN1C cyclin dependent kinase inhibitor 1C

Gene ID: 1028, updated on 2-Nov-2024
Gene type: protein coding
Also known as: BWS; WBS; p57; BWCR; KIP2; p57Kip2

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Beckwith-Wiedemann syndrome MedGen: C0004903OMIM: 130650GeneReviews: Wilms Tumor Predisposition, Beckwith-Wiedemann Syndrome	See labs
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. GeneReviews: Not available
IMAGe syndrome MedGen: C1846009OMIM: 614732GeneReviews: IMAGe Syndrome	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-09-25) ClinGen Genome Curation PagePubMed Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-09-25) ClinGen Genome Curation PagePubMed

Genomic context

Location:: 11p15.4

Sequence:: Chromosome: 11; NC_000011.10 (2883218..2885775, complement)

Total number of exons:: 4

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for CDKN1C variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

CDKN1C database
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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