Overview

Location [1]
19p13.12
Synonyms [1]
IMF2, CADASIL1, CADASIL, LMNS, CASIL

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.

Significance of NOTCH3 in Diseases

Breast Carcinoma +

Malignant Solid Tumor +

Adenoid Cystic Carcinoma +

Cholangiocarcinoma +

Colon Carcinoma +

Lymphoma +

Soft Tissue Sarcoma +

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.