Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
5q31.2
Pathway
Beta-Catenin/WNT signaling
Protein [2]
Catenin alpha-1
Synonyms [1]
MDPT2, CAP102

Catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1) is a gene that encodes a protein for which the biological function is unknown. Missense mutations, nonsense mutations, silent mutations, whole gene deletions, frameshift deletions and insertions, and in-frame insertions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

CTNNA1 is altered in 1.25% of all cancers with breast invasive ductal carcinoma, colon adenocarcinoma, lung adenocarcinoma, breast invasive lobular carcinoma, and colorectal adenocarcinoma having the greatest prevalence of alterations [3].

CTNNA1 GENIE Cases - Top Diseases

The most common alterations in CTNNA1 are CTNNA1 Mutation (0.34%), CTNNA1 Amplification (0.03%), CTNNA1 Loss (0.02%), CTNNA1 I213V (0.01%), and CTNNA1 Q831H (0.01%) [3].

CTNNA1 GENIE Cases - Top Alterations

Significance of CTNNA1 in Diseases

Medulloblastoma +

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.