Overview

Location [1]
19p13.12
Protein [2]
Notch 3 intracellular domain
Synonyms [1]
CADASIL1, CADASIL, IMF2, CASIL, LMNS

Notch 3 (NOTCH3) is a gene that encodes a protein that, in Droshophila, functions in the intracellular signaling pathways that are important for neural development. However, the protein's function is not clear in humans. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

NOTCH3 is altered in 3.62% of all cancers with colon adenocarcinoma, lung adenocarcinoma, cutaneous melanoma, breast invasive ductal carcinoma, and melanoma having the greatest prevalence of alterations [3].

NOTCH3 GENIE Cases - Top Diseases

The most common alterations in NOTCH3 are NOTCH3 Mutation (2.97%), NOTCH3 Amplification (0.19%), NOTCH3 A1802Gfs*8 (0.02%), NOTCH3 Loss (0.02%), and NOTCH3 A284T (0.02%) [3].

NOTCH3 GENIE Cases - Top Alterations

Significance of NOTCH3 in Diseases

Malignant Solid Tumor +

Colon Carcinoma +

Lymphoma +

Breast Carcinoma +

Cholangiocarcinoma +

Soft Tissue Sarcoma +

Adenoid Cystic Carcinoma +

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.