CDKN1C (cyclin dependent kinase inhibitor 1C)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1028
Gene name Gene Name - the full gene name approved by the HGNC.
Cyclin dependent kinase inhibitor 1C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDKN1C
Synonyms (NCBI Gene) Gene synonyms aliases
BWCR, BWS, KIP2, WBS, p57, p57Kip2
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.4
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(38)
SNP ID Visualize variation Clinical significance Consequence
rs104894200 G>A,T Uncertain-significance, pathogenic Missense variant, stop gained, coding sequence variant, intron variant
rs137852766 G>A Pathogenic Coding sequence variant, stop gained
rs267606716 G>C,T Pathogenic, likely-pathogenic Stop gained, coding sequence variant, missense variant
rs318240750 C>A,G Pathogenic, not-provided Coding sequence variant, missense variant
rs387906399 AG>C Pathogenic Coding sequence variant, intron variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
miRTarBase ID miRNA Experiments Reference
MIRT002272 hsa-miR-221-3p Reporter assay 18521080
MIRT002272 hsa-miR-221-3p Luciferase reporter assay, Western blot 18413744
MIRT000719 hsa-miR-222-3p Luciferase reporter assay, Western blot 18413744
MIRT004293 hsa-miR-92b-3p Luciferase reporter assay, Western blot 19544458
MIRT004293 hsa-miR-92b-3p Luciferase reporter assay, Western blot 19544458
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
Transcription factor Regulation Reference
E2F1 Unknown 20106982
HOXA10 Repression 15749785
KLF4 Activation 19544095
PROX1 Activation 17069925
VHL Activation 15824735
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(35)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0001501 Process Skeletal system development IEA
GO:0001822 Process Kidney development IEA
GO:0001890 Process Placenta development IEA
GO:0004860 Function Protein kinase inhibitor activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600856 1786 ENSG00000129757
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P49918
Protein name Cyclin-dependent kinase inhibitor 1C (Cyclin-dependent kinase inhibitor p57) (p57Kip2)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02234 CDI 32 → 82 Cyclin-dependent kinase inhibitor Family
Tissue specificity 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. {ECO:0000269|PubMed:22634751}.
Sequence 
MSDASLRSTSTMERLVARGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNR
WDYDFQQDMPLRGPGRLQWTEVDSDSVPAFYRETVQVGRCRLLLAPRPVAVAVAVSPPLE
PAAESLDGLEEAPEQLPSVPVPAPASTPPPVPVLAPAPAPAPAPVAAPVAAPVAVAVLAP
APAPAPAPAPAPAPVAAPAPAPAPAPAPAPAPAPAPDAAPQESAEQGANQGQRGQEPLAD
QLHSGISGRPAAGTAAASANGAAIKKLSGPLISDFFAKRKRSAPEKSSGDVPAPCPSPSA
APGVGSVEQTPRKRLR
Sequence length 316
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Cell cycle   Cyclin D associated events in G1
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Beckwith-Wiedemann Syndrome beckwith-wiedemann syndrome rs483352970, rs1848977725, rs786205237, rs387906399, rs1564929426, rs786205235, rs786205239, rs104894200, rs1564929520, rs786205236, rs786205241, rs267606716, rs1564929584, rs483352988, rs786205234
View all (22 more)		 N/A
IMAGe Syndrome image syndrome rs483352989, rs387907223, rs387907224, rs318240750, rs387907225, rs387907226 N/A
Silver-Russell Syndrome Silver-Russell syndrome 1 rs318240750 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
hereditary cancer Hereditary cancer N/A N/A ClinVar
Show/Hide Text Mining Associations (131)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Associate 20484977, 34065128
Adrenal Insufficiency Associate 33076988
Adrenocortical Carcinoma Associate 18786438
AIDS Associated Nephropathy Inhibit 10886558, 10916090
Anemia Diamond Blackfan Associate 31961825
Astrocytoma Inhibit 10980131, 30941985
Astrocytoma Associate 15367334
Atherosclerosis Associate 17351341
Autoimmune Diseases Associate 22771791
Beckwith Wiedemann Syndrome Associate 10220444, 10424811, 10424812, 11106355, 14627666, 15372379, 16061564, 17259293, 19300480, 21248736, 22079941, 22205991, 25057881, 27313795, 29047350
View all (17 more)