Overview

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

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 1.59% of all cancers with colorectal adenocarcinoma, non-small cell lung carcinoma, melanoma, bladder carcinoma, and breast carcinoma having the greatest prevalence of alterations [3].

ACVR1B GENIE Cases - Top Diseases

The most common alterations in ACVR1B are ACVR1B Mutation (0.06%), ACVR1B Amplification (0.00%), ACVR1B Loss (0.00%), ACVR1B P77S (0.00%), and ACVR1B A357D (0.00%) [3].

ACVR1B GENIE Cases - Top Alterations

Significance of ACVR1B in Diseases

Head And Neck Carcinoma +

Malignant Solid Tumor +

Bladder Carcinoma +

Non-Small Cell Lung Carcinoma +

Pancreatic Carcinoma +

Melanoma +

Breast Carcinoma +

Anaplastic Astrocytoma +

Colorectal Carcinoma +

Glioblastoma +

Lymphoma +

Ovarian Carcinoma +

Sarcoma +

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.