Overview

Location [1]
3p22.1
Pathway
Beta-Catenin/WNT signaling
Protein [2]
Catenin beta-1
Synonyms [1]
CTNNB, armadillo, MRD19

CTNNB1 (catenin (cadherin-associated protein), beta 1, 88kDa) is a gene that encodes catenin beta-1 protein (also known as ß-catenin). ß-catenin is part of a complex of proteins that form adherens junctions, which are important for the establishment and maintenance of epithelial cell layers by regulating cell growth and adhesion between adjacent cells (PMID: 17854762). Mutant ß-catenin has been implicated in the pathogenesis of several cancers including melanoma, colorectal cancer, hepatocelluar carcinoma, and ovarian cancer (PMID: 12781368).

CTNNB1 is altered in 3.20% of all cancers with uterine corpus neoplasm, colorectal adenocarcinoma, non-small cell lung carcinoma, melanoma, and hepatocellular carcinoma having the greatest prevalence of alterations [3].

CTNNB1 GENIE Cases - Top Diseases

The most common alterations in CTNNB1 are CTNNB1 Mutation (3.84%), CTNNB1 S37F (0.38%), CTNNB1 S45F (0.24%), CTNNB1 T41A (0.23%), and CTNNB1 S45P (0.20%) [3].

CTNNB1 GENIE Cases - Top Alterations

Significance of CTNNB1 in Diseases

Medulloblastoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Gastric Adenocarcinoma +

Esophageal Adenocarcinoma +

Esophageal Squamous Cell Carcinoma +

Gastric Squamous Cell Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.