Overview

Transmembrane protein 30A (TMEM30A) is a gene that encodes a catalytic protein that functions in the hydrolysis of ATP for the transport of aminophospholipids throughout cell membranes. Missense mutations, nonsense mutations, synonymous mutations, frameshift deletions, frameshift insertions, and complex mutations are observed in cancers such as colon cancer, hematopoietic and lymphoid cancers, and skin cancer.

TMEM30A is altered in 0.46% of all cancers with leiomyosarcoma, cancer, NOS, colon adenocarcinoma, desmoplastic melanoma, and non-small cell lung carcinoma having the greatest prevalence of alterations [3].

The most common alterations in TMEM30A are TMEM30A E111* (0.08%), TMEM30A G189A (1.09%), TMEM30A G251E (0.08%), TMEM30A G340* (0.08%), and TMEM30A P19A (0.08%) [3].

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.