Overview

Location [1]
7p22.1
Protein [2]
Actin, cytoplasmic 1, N-terminally processed
Synonyms [1]
BRWS1, PS1TP5BP1

Actin, beta (ACTB) is a gene that encodes a protein that functions in cell motility, structure, and integrity. The protein is also an important component of the contractile apparatus and one of two non-muscle cytoskeletal actins. Fusions, missense mutations, silent mutations, and frameshift insertions and deletions are observed in cancers such as salivary gland cancer, stomach cancer, and cancers of the urinary tract.

ACTB is altered in 0.54% of all cancers with colon adenocarcinoma, colorectal adenocarcinoma, dedifferentiated chondrosarcoma, leiomyosarcoma, and meningioma having the greatest prevalence of alterations [3].

ACTB GENIE Cases - Top Diseases

The most common alterations in ACTB are ACTB Amplification (2.17%), ACTB F223L (0.08%), ACTB I327V (0.08%), ACTB N296S (0.08%), and ACTB R372C (0.08%) [3].

ACTB GENIE Cases - Top Alterations

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.