Overview

Location [1]
1p12
Protein [2]
Notch 2 intracellular domain
Synonyms [1]
HJCYS, AGS2, hN2

Notch 2 (NOTCH2) is a gene that encodes a transmembrane protein that functions in multiple developmental processes and the interactions between adjacent cells. The transmembrane protein also functions as a receptor for membrane bound ligands. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as intestinal cancer, skin cancer, and cancers of the urinary tract.

NOTCH2 is altered in 3.17% of all cancers with lung adenocarcinoma, breast invasive ductal carcinoma, colon adenocarcinoma, cutaneous melanoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

NOTCH2 GENIE Cases - Top Diseases

The most common alterations in NOTCH2 are NOTCH2 Mutation (3.15%), NOTCH2 Amplification (0.46%), NOTCH2 Loss (0.03%), NOTCH2 R2400* (0.02%), and NOTCH2 V1079I (0.02%) [3].

NOTCH2 GENIE Cases - Top Alterations

Significance of NOTCH2 in Diseases

Lymphoma +

Malignant Solid Tumor +

Breast Carcinoma +

Melanoma +

Bladder Carcinoma +

Glioblastoma +

Colon Carcinoma +

Non-Small Cell Lung Carcinoma +

Anaplastic Astrocytoma +

Colorectal Carcinoma +

Ovarian Carcinoma +

Sarcoma +

Cholangiocarcinoma +

Soft Tissue Sarcoma +

Pancreatic Carcinoma +

Adenoid Cystic Carcinoma +

Head And Neck Carcinoma +

Mantle Cell Lymphoma +

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 6. 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.