# TMEM69

## Overview
TMEM69 is a gene located on human chromosome 1p34.1 that encodes the protein transmembrane protein 69. This protein is categorized as a transmembrane protein, suggesting its involvement in cellular signaling or transport processes. The specific functions of TMEM69 and its encoded protein are not fully understood, but it is known to be expressed predominantly in heart tissue, which may indicate a role in cardiac or muscle-related functions. Additionally, the presence of SINE-VNTR-Alu (SVA) elements in the gene's 3' untranslated region hints at possible regulatory roles affecting gene expression or mRNA stability. Despite these insights, the precise molecular activities and biological significance of TMEM69 in normal and pathological conditions require further investigation (Kwon2013Structure; Solmi2006Microarray-based; Lacey2018Copy).

## Function
The function of the TMEM69 gene in healthy human cells remains largely unexplored, with limited information available on its specific roles and molecular processes. TMEM69 encodes a transmembrane protein, suggesting potential involvement in cellular signaling or transport mechanisms. However, detailed functions and the molecular activities of the TMEM69 protein in cell biology are not well-documented (Solmi2006Microarray-based).

Research indicates that TMEM69 is expressed primarily in heart tissue, hinting at a possible relevance to cardiac or muscle-related functions (Lacey2018Copy). Additionally, the presence of SINE-VNTR-Alu (SVA) elements in the 3' untranslated region (UTR) of the TMEM69 gene suggests that it may have regulatory roles influencing gene expression or mRNA stability, which could impact the protein's function in various tissues (Kwon2013Structure).

Despite these indications, the specific molecular activities and organismal outcomes associated with TMEM69 in healthy human cells are yet to be fully determined. Further research is necessary to elucidate the precise functions of TMEM69 and its contributions to cellular homeostasis and pathology.

## Clinical Significance
TMEM69 has been implicated in various clinical contexts, although specific diseases directly caused by mutations in this gene have not been conclusively identified. In the realm of cancer research, TMEM69 was investigated as a potential marker for detecting circulating tumor cells (CTCs) in the blood of patients with colorectal cancer. However, studies have shown that TMEM69, along with other candidate genes, did not allow for the identification of epithelial-specific markers in the blood, thus excluding it from playing a role in this specific cancer detection method (Solmi2006Microarray-based).

In cardiovascular research, TMEM69 has been associated with earthquake-induced stress cardiomyopathy (EqSCM). A genetic study identified a 455 kb duplication on chromosome 1p34.1, affecting several genes including TMEM69. This duplication suggests a potential role in cardiac function, particularly under stress conditions such as those induced by earthquakes, although the exact mechanisms and implications remain to be fully understood (Lacey2018Copy).

Additionally, TMEM69 has been linked to the response to neoadjuvant chemotherapy (NAC) in bladder carcinoma. A gene coexpression network study identified TMEM69 as part of a predictive risk score for NAC response, indicating its potential utility in therapeutic response prediction in this type of cancer (Li2022A).


## References


[1. (Kwon2013Structure) Yun-Jeong Kwon, Yuri Choi, Jungwoo Eo, Yu-Na Noh, Jeong-An Gim, Yi-Deun Jung, Ja-Rang Lee, and Heui-Soo Kim. Structure and expression analyses of sva elements in relation to functional genes. Genomics & Informatics, 11(3):142, 2013. URL: http://dx.doi.org/10.5808/gi.2013.11.3.142, doi:10.5808/gi.2013.11.3.142. (17 citations) 10.5808/gi.2013.11.3.142](https://doi.org/10.5808/gi.2013.11.3.142)

[2. (Li2022A) Huihuang Li, Jiao Hu, Xiongbing Zu, Minfeng Chen, Jinbo Chen, Yihua Zou, Ruoping Deng, Gang Qin, Wenze Li, Jiansheng Tang, Dingshan Deng, Jinhui Liu, Chunliang Cheng, Yu Cui, and Zhenyu Ou. A novel signature to predict the neoadjuvant chemotherapy response of bladder carcinoma: results from a territory multicenter real-world study. Frontiers in Genetics, November 2022. URL: http://dx.doi.org/10.3389/fgene.2022.1047481, doi:10.3389/fgene.2022.1047481. (0 citations) 10.3389/fgene.2022.1047481](https://doi.org/10.3389/fgene.2022.1047481)

[3. (Solmi2006Microarray-based) Rossella Solmi, Giampaolo Ugolini, Giancarlo Rosati, Simone Zanotti, Mattia Lauriola, Isacco Montroni, Marco del Governatore, Antonello Caira, Mario Taffurelli, Donatella Santini, Domenico Coppola, Lia Guidotti, Paolo Carinci, and Pierluigi Strippoli. Microarray-based identification and rt-pcr test screening for epithelial-specific mrnas in peripheral blood of patients with colon cancer. BMC Cancer, October 2006. URL: http://dx.doi.org/10.1186/1471-2407-6-250, doi:10.1186/1471-2407-6-250. (31 citations) 10.1186/1471-2407-6-250](https://doi.org/10.1186/1471-2407-6-250)

[4. (Lacey2018Copy) Cameron J. Lacey, Kit Doudney, Paul G. Bridgman, Peter M. George, Roger T. Mulder, Julie J. Zarifeh, Bridget Kimber, Murray J. Cadzow, Michael A. Black, Tony R. Merriman, Klaus Lehnert, Vivienne M Bickley, John F. Pearson, Vicky A. Cameron, and Martin A. Kennedy. Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy. Scientific Reports, May 2018. URL: http://dx.doi.org/10.1038/s41598-018-25827-5, doi:10.1038/s41598-018-25827-5. (11 citations) 10.1038/s41598-018-25827-5](https://doi.org/10.1038/s41598-018-25827-5)