CDKN1C cyclin dependent kinase inhibitor 1C
Gene ID: 1028, updated on 11-Apr-2024Gene type: protein coding
Also known as: BWS; WBS; p57; BWCR; KIP2; p57Kip2
- See all available tests in GTR for this gene
- Go to complete Gene record for CDKN1C
- Go to Variation Viewer for CDKN1C variants
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 | See labs |
| Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. GeneReviews: Not available | |
| IMAGe syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity 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
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 |
- CDKN1C database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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