Overview

Location [1]
12q13.13
Protein [2]
Activin receptor type-1B
Synonyms [1]
ALK4, ACTRIB, SKR2, ACVRLK4

Activin A receptor type IB (ACVR1B) is a gene that encodes a signaling protein that functions in growth and differentiation. Missense mutations, synonymous mutations, nonsense mutations, and frameshift deletions are observed in cancers such as colon cancer, stomach cancer, and endometrial cancer.

ACVR1B is altered in 1.33% of all cancers with colon adenocarcinoma, pancreatic adenocarcinoma, conventional glioblastoma multiforme, lung adenocarcinoma, and colorectal mucinous adenocarcinoma having the greatest prevalence of alterations [3].

ACVR1B GENIE Cases - Top Diseases

The most common alterations in ACVR1B are ACVR1B Mutation (1.06%), ACVR1B Loss (0.19%), ACVR1B R444* (0.07%), ACVR1B R489H (0.07%), and ACVR1B Amplification (0.18%) [3].

ACVR1B GENIE Cases - Top Alterations

Significance of ACVR1B in Diseases

Colorectal Carcinoma +

Pancreatic Carcinoma +

Glioblastoma +

Bladder Carcinoma +

Non-Small Cell Lung Carcinoma +

Malignant Solid Tumor +

Ovarian Carcinoma +

Melanoma +

Head And Neck Carcinoma +

Breast Carcinoma +

Anaplastic Astrocytoma +

Lymphoma +

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.