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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CDKN1B
cyclin dependent kinase inhibitor 1B
Chromosome 12 Β· 12p13.1
NCBI Gene: 1027Ensembl: ENSG00000111276.13HGNC: HGNC:1785UniProt: P46527
1,107PubMed Papers
21Diseases
0Drugs
114Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTumor Suppressor
RESEARCH IMPACT
Highly StudiedVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein-containing complex bindingcellular response to lithium ionprotein kinase inhibitor activitycyclin-dependent protein serine/threonine kinase inhibitor activitymultiple endocrine neoplasia type 4prostate carcinomahereditary neoplastic syndromeInherited cancer-predisposing syndrome
✦AI Summary

CDKN1B (cyclin-dependent kinase inhibitor 1B, also known as p27) is a critical cell cycle regulator that functions as a potent inhibitor of cyclin E-CDK2 and cyclin A-CDK2 complexes, promoting G1 arrest and regulating G1/S phase transition 1. The protein acts as a dual regulator of cyclin D-CDK4 complexes, functioning as either an inhibitor or activator depending on its phosphorylation state and stoichiometry. CDKN1B is subject to ubiquitin-mediated degradation through the Skp2-SCF E3 ligase pathway and other mechanisms 2, which regulates its cellular levels and impact on proliferation control. Clinically, CDKN1B mutations represent a novel tumor susceptibility mechanism. Germline heterozygous mutations in CDKN1B cause multiple endocrine neoplasia type 4 (MEN4), characterized by primary hyperparathyroidism (53.4% risk by age 60), pituitary adenomas (23.2% risk), and neuroendocrine tumors (16.2% risk) 3. Somatic CDKN1B mutations have also been identified in sporadic parathyroid tumors, lymphoma, and breast cancer 4. In cancer progression, CDKN1B loss or degradation promotes tumorigenesis; conversely, CDKN1B stabilization mediates drug-tolerant persister states in breast cancer by restricting polyploidy after mitotic inhibitors 5. Loss of CDKN1B expression correlates with aggressive tumor behavior and poor clinical outcomes across multiple cancer types 2.

Sources cited
1
CDKN1B inhibits CDK2 bound to cyclin A but has little inhibitory activity on CDK2 bound to SPDYA
PMID: 28666995
2
CDKN1B is a substrate of Skp2-mediated ubiquitin-proteasome degradation; loss of CDKN1B associates with aggressive tumor behavior and poor prognosis in colorectal cancer
PMID: 26114183
3
CDKN1B germline mutations cause MEN4 with 53.4% PHPT risk, 23.2% pituitary adenoma risk, and 16.2% neuroendocrine tumor risk; genotype-phenotype correlations identified
PMID: 36256846
4
CDKN1B is a tumor susceptibility gene for MEN4; somatic or germline CDKN1B mutations identified in sporadic PHPT, neuroendocrine tumors, lymphoma, and breast cancer
PMID: 28824003
5
CDKN1B stabilization enables drug-tolerant persister states in breast cancer by restricting polyploidy following mitotic inhibitors through AKT-mediated phosphorylation
PMID: 40623195
Disease Associationsβ“˜21
multiple endocrine neoplasia type 4Open Targets
0.79Strong
prostate carcinomaOpen Targets
0.56Moderate
hereditary neoplastic syndromeOpen Targets
0.55Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.55Moderate
thyroid carcinomaOpen Targets
0.55Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
Pituitary Gland AdenomaOpen Targets
0.51Moderate
thyroid cancerOpen Targets
0.51Moderate
type 2 diabetes mellitusOpen Targets
0.50Moderate
prostate adenocarcinomaOpen Targets
0.46Moderate
primary hyperparathyroidismOpen Targets
0.45Moderate
hypertensionOpen Targets
0.44Moderate
multiple endocrine neoplasiaOpen Targets
0.41Moderate
breast adenocarcinomaOpen Targets
0.40Weak
hairy cell leukemiaOpen Targets
0.38Weak
hepatocellular carcinomaOpen Targets
0.38Weak
Invasive Breast CarcinomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
hemangioblastomaOpen Targets
0.37Weak
small intestinal neuroendocrine tumor G1Open Targets
0.37Weak
Multiple endocrine neoplasia 4UniProt
Pathogenic Variants114
NM_004064.5(CDKN1B):c.388_392del (p.Leu130fs)Pathogenic
Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 130
NM_004064.5(CDKN1B):c.319C>T (p.Gln107Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia type 4
β˜…β˜…β˜†β˜†2025β†’ Residue 107
NM_004064.5(CDKN1B):c.285dup (p.Lys96fs)Pathogenic
Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 96
NM_004064.5(CDKN1B):c.85dup (p.Cys29fs)Pathogenic
not provided|Multiple endocrine neoplasia type 4
β˜…β˜…β˜†β˜†2025β†’ Residue 29
NM_004064.5(CDKN1B):c.460C>T (p.Arg154Ter)Pathogenic
Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 154
NM_004064.5(CDKN1B):c.179G>A (p.Trp60Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia type 4
β˜…β˜…β˜†β˜†2025β†’ Residue 60
NM_004064.5(CDKN1B):c.21dup (p.Asn8Ter)Pathogenic
Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 8
NM_004064.5(CDKN1B):c.320del (p.Gln107fs)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Multiple endocrine neoplasia type 4
β˜…β˜…β˜†β˜†2025β†’ Residue 107
NM_004064.5(CDKN1B):c.285del (p.Gly97fs)Pathogenic
Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 97
NM_004064.5(CDKN1B):c.169C>T (p.Gln57Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia type 4
β˜…β˜…β˜†β˜†2025β†’ Residue 57
NM_004064.5(CDKN1B):c.410del (p.Pro137fs)Pathogenic
Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome|Neoplasm
β˜…β˜…β˜†β˜†2025β†’ Residue 137
NM_004064.5(CDKN1B):c.99del (p.Phe33fs)Pathogenic
Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia type 4
β˜…β˜…β˜†β˜†2025β†’ Residue 33
NM_004064.5(CDKN1B):c.175A>T (p.Lys59Ter)Pathogenic
Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 59
NM_004064.5(CDKN1B):c.487C>T (p.Gln163Ter)Pathogenic
Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 163
NM_004064.5(CDKN1B):c.524C>G (p.Ser175Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia type 4
β˜…β˜…β˜†β˜†2025β†’ Residue 175
NM_004064.5(CDKN1B):c.295_305del (p.Cys99fs)Pathogenic
Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 99
NM_004064.5(CDKN1B):c.229C>T (p.Gln77Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|CDKN1B-related disorder|Multiple endocrine neoplasia type 4
β˜…β˜…β˜†β˜†2025β†’ Residue 77
NM_004064.5(CDKN1B):c.180G>A (p.Trp60Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia type 4
β˜…β˜…β˜†β˜†2025β†’ Residue 60
NM_004064.5(CDKN1B):c.13C>T (p.Arg5Ter)Pathogenic
not provided|Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 5
NM_004064.5(CDKN1B):c.295_305dup (p.Gln104fs)Pathogenic
Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 104
View on ClinVar β†—
Related Genes
CCND1Protein interaction100%CCND2Protein interaction100%CCND3Protein interaction100%CDK1Protein interaction100%CDK3Protein interaction100%CDK4Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
60%
Ovary
52%
Lung
41%
Heart
36%
Liver
36%
Gene Interaction Network
Click a node to explore
CDKN1BCCND1CCND2CCND3CDK1CDK3CDK4
PROTEIN STRUCTURE
Preparing viewer…
PDB7OR8 Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.80LoF Tolerant
pLIβ“˜
0.24Tolerant
Observed/Expected LoF0.43 [0.24–0.80]
RankingsWhere CDKN1B stands among ~20K protein-coding genes
  • #137of 20,598
    Most Researched1,107 Β· top 1%
  • #681of 5,498
    Most Pathogenic Variants114 Β· top quartile
  • #6,700of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedCDKN1B
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Extrachromosomal circular DNA promotes prostate cancer progression through the FAM84B/CDKN1B/MYC/WWP1 axis.
PMID: 38997648
Cell Mol Biol Lett Β· 2024
1.00
2
MEN4 and
PMID: 28824003
Endocr Relat Cancer Β· 2017
0.90
3
p27Kip1 regulates Ξ³-globin production.
PMID: 41411145
Blood Β· 2026
0.86
4
Gene Transactivation and Transrepression in MYC-Driven Cancers.
PMID: 33801599
Int J Mol Sci Β· 2021
0.84
5
p27
PMID: 39936980
Cells Β· 2025
0.82