CDKN1B Chromosome 12
Cyclin dependent kinase inhibitor 1B
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What This Gene Does
This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014]
Associated Conditions (11)
Multiple endocrine neoplasia type 4
Hereditary cancer-predisposing syndrome
CDKN1B-related disorder
Primary hyperparathyroidism
Ovarian cancer
Hereditary nonpolyposis colon cancer
Gastric cancer
Colorectal cancer
Neuroendocrine neoplasm
Neoplasm
Lung cancer
Key Variants
RS1041108422
Conflicting classifications of pathogenicity
Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome, CDKN1B-related disorder
Health Risk
RS1060503869
Conflicting classifications of pathogenicity
Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
Health Risk
RS1218732639
Conflicting classifications of pathogenicity
Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
Health Risk
RS1231596455
Conflicting classifications of pathogenicity
Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
Health Risk
RS1249627522
Conflicting classifications of pathogenicity
Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
Health Risk
RS137985549
Conflicting classifications of pathogenicity
Primary hyperparathyroidism, Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
Health Risk
RS1391369844
Conflicting classifications of pathogenicity
Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
Health Risk
RS139727620
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
Health Risk
RS1413091136
Conflicting classifications of pathogenicity
Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
Health Risk
RS141509450
Conflicting classifications of pathogenicity
Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome, CDKN1B-related disorder
Health Risk
RS1421717737
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
Health Risk
RS1427690050
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
Health Risk
All Variants (162)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2497405587 | Health Risk | Pathogenic | Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4 |
| RS2497405682 | Health Risk | Pathogenic | Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4 |
| RS532903617 | Health Risk | Pathogenic | Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4 |
| RS755301027 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome |
| RS786201007 | Health Risk | Pathogenic | Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4 |
| RS786201011 | Health Risk | Pathogenic | Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4 |
| RS797044482 | Health Risk | Pathogenic | Neuroendocrine neoplasm, Hereditary cancer-predisposing syndrome, Neuroendocrine neoplasm |
| RS1349668409 | Health Risk | Pathogenic/Likely pathogenic | Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4 |
| RS1592280833 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome |
| RS1946491661 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, CDKN1B-related disorder, Multiple endocrine neoplasia type 4 |
| RS2136355372 | Health Risk | Pathogenic/Likely pathogenic | Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4 |
| RS2497404433 | Health Risk | Pathogenic/Likely pathogenic | Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4 |