Overview

Location [1]
12p13.1
Pathway
Cell cycle control
Protein [2]
Cyclin-dependent kinase inhibitor 1B
Synonyms [1]
KIP1, MEN4, MEN1B, CDKN4, P27KIP1

Cyclin-dependent kinase inhibitor 1B (CDKN1B, also known as p27) is a gene that encodes a protein that binds to and inhibits the activation of cyclin E/CDK2 or cyclin D/CDK4 complexes in order to regulate cell cycle progression at G1. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as endometrial cancer, esophageal cancer, and intestinal cancer.

CDKN1B is altered in 1.85% of all cancers with breast invasive ductal carcinoma, prostate adenocarcinoma, lung adenocarcinoma, colon adenocarcinoma, and testicular mixed germ cell tumor having the greatest prevalence of alterations [3].

CDKN1B GENIE Cases - Top Diseases

The most common alterations in CDKN1B are CDKN1B Amplification (0.69%), CDKN1B Mutation (0.51%), CDKN1B Loss (0.44%), CDKN1B X159_splice (0.06%), and CDKN1B D136G (0.08%) [3].

CDKN1B GENIE Cases - Top Alterations

Significance of CDKN1B in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Non-Hodgkin Lymphoma +

Colorectal Carcinoma +

Germ Cell Tumor +

Bladder Carcinoma +

Ovarian Carcinoma +

Anaplastic Astrocytoma +

Histiocytic And Dendritic Cell Neoplasm +

Melanoma +

Lymphoma +

Head And Neck Carcinoma +

Gastric Carcinoma +

Non-Small Cell Lung Carcinoma +

Sarcoma +

Pancreatic Carcinoma +

Esophageal Carcinoma +

Glioblastoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.