AlphaFold predicted structure
CDKN1C · P49918
Mean pLDDT
62.8/ 100
Low
316 residues
Confidence breakdown
- Very high(≥ 90)15%
- Confident(70–90)17%
- Low(50–70)34%
- Very low(< 50)34%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CDKN1C
Chr 11p15.4cyclin dependent kinase inhibitor 1C
- Aliases:
- P57, KIP2
- MANE:
- ENST00000440480.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Beckwith-Wiedemann syndrome
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)Childhood solid tumours
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)Childhood solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)Clefting
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)Congenital adrenal hypoplasia
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)DDG2P
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)Differences in sex development
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
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Disease associations (Open Targets)
Beckwith-Wiedemann syndrome
0.83IMAGe syndrome
0.81neurodegenerative disease
0.58Alzheimer disease
0.53multiple sclerosis
0.52Parkinson disease
0.52lysosomal storage disease
0.52isolated hemihyperplasia
0.47Beckwith-Wiedemann syndrome due to CDKN1C mutation
0.46hereditary disease
0.45
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Cyclin-dependent kinase inhibitor 1C
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
Diseases associated with CDKN1C
Curated MONDO disease pages that list CDKN1C among their top associated genes.