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Gene : CDKN1C Homo sapiens

Name  ? cyclin dependent kinase inhibitor 1C Cytological Location  11p15.4
Brief Description  cyclin dependent kinase inhibitor 1C
Description  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]
  • synonyms:
  • Beckwith-Wiedemann syndrome,
  • HGNC:1786,
  • P57,
  • CDKN1C,
  • D64137,
  • p57,
  • OTTHUMG00000010040,
  • BWS,
  • uc001lws.5,
  • p57Kip2,
  • KIP2,
  • cyclin-dependent kinase inhibitor 1C (p57, Kip2),
  • KIP2,
  • BWS,
  • NM_000076,
  • BWCR,
  • WBS,
  • BWCR
  • identifiers:
  • 1028,
  • ENSG00000129757,
  • CDKN1C

Genome feature

Region: gene ? Length: 2558  
Location: 11:2883218-2885775 reverse strand Cyto location: 11p15.4


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

70 SN Ps

5 Cross References

18 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results