Overview

Location [1]
10q23.2
Protein [2]
Bone morphogenetic protein receptor type-1A
Synonyms [1]
CD292, 10q23del, ACVRLK3, SKR5, ALK3

Bone morphogenetic protein receptor, type IA, (BMPR1A) is a gene that encodes a protein that is a member of a family of transmembrane serine/threonine kinases that bind to members of the TGF-beta superfamily. Missense mutations, silent mutations, nonsense mutations, and frameshift deletions are observed in cancers such as colon cancer, urinary tract cancer, and stomach cancer.

BMPR1A is altered in 0.99% of all cancers with colon adenocarcinoma, prostate adenocarcinoma, lung adenocarcinoma, endometrial endometrioid adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

BMPR1A GENIE Cases - Top Diseases

The most common alterations in BMPR1A are BMPR1A Mutation (0.69%), BMPR1A Loss (0.18%), BMPR1A Amplification (0.06%), BMPR1A L59* (0.03%), and BMPR1A R284C (0.02%) [3].

BMPR1A 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.