The TMPRSS2 gene tells cells how to make a surface protein that helps switch on other proteins in the airways, gut, and prostate. If it does not work normally, these steps can change, which may affect how some viruses enter cells and may contribute to some prostate cancers. Public awareness of TMPRSS2 grew during the COVID-19 pandemic because SARS-CoV-2 uses the TMPRSS2 protein to help enter airway cells.
What is a gene?
Genes are sections of DNA that hold instructions your cells use to make molecules or direct activities in the body. Some provide the instructions for producing proteins, which are the parts of cells that do much of the work. Others mainly regulate when certain processes happen, where they happen, and how active they are. Taken together, genes affect how the body grows and works, and they may also influence how you respond to food, stress, and medicines. More detail on this topic is available in the LearnHub.
Overview
TMPRSS2Gene function
What if the gene works
The TMPRSS2 gene helps cells make a surface protein that cuts and activates other proteins. This supports normal cell signaling and tissue function, especially in the prostate and airways.
Risk
What if the gene does not work
Changes in the TMPRSS2 gene can range from mild to more severe. When it works less well, cells may make too little TMPRSS2 or a less active protein-cutting enzyme, altering how certain surface proteins are switched on.
Treatment
What does that mean for your treatment
No treatment or management plan is currently tailored to a pathogenic or loss-of-function variant in the TMPRSS2 gene. The TMPRSS2 gene is being studied as a drug target and biomarker, especially in prostate cancer and viral entry research, but this has not led to guideline-based drug choices for people with these variants.
Gene function
What if the gene works
Knowing the TMPRSS2 gene function helps explain how certain lining cells manage proteins at their outer surface. In healthy cells, this gene provides instructions for an enzyme attached to the cell surface that trims selected proteins. That step helps proteins become active in the right place and supports routine cell activity in tissues such as the airways, digestive tract, and prostate.
The enzyme made from the TMPRSS2 gene cuts selected proteins at the cell surface. This controlled trimming is one way cells adjust how proteins work after they are made.
Some proteins need a precise cut before they can work fully. The enzyme made from the TMPRSS2 gene helps carry out that step at the cell surface.
Cells in the airways, digestive tract, and prostate often use the TMPRSS2 gene. The enzyme it makes supports orderly protein processing at the outer cell surface during everyday contact with air and body fluids.
What is a variant?
A genetic variant is a small difference in the DNA sequence of a gene. These changes are common and help shape normal human diversity, such as differences in appearance, metabolism, or the way the body responds to environmental influences. Many variants do not have any noticeable effect and simply represent natural genetic variation. In some situations, however, a variant can more substantially change how a gene functions and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the TMPRSS2 gene can change how much TMPRSS2 protein reaches the cell surface, how stable it is, or how well it cuts other proteins. This is central to how TMPRSS2 variants affect protein function: milder variants may only partly reduce activity, while more disruptive variants can sharply lower or stop the protein's enzyme action. Some DNA changes can also alter how the protein folds or is switched on, which changes its interactions with nearby proteins.
How variants are linked to conditions
Inherited variants in the TMPRSS2 gene do not yet have a broadly confirmed link to a specific health condition, though research on TMPRSS2 gene variants and health conditions is still developing. If you have a reported variant in the TMPRSS2 gene, your doctor or genetic counselor can explain what it may mean alongside your personal and family history.
A variant is not necessarily a diagnosis
Genetic variants are a common and normal part of human biology. Most do not directly affect health and simply reflect natural variation among people. For many genes, carrying a variant associated with a condition suggests a possible link rather than a certain diagnosis, especially when more than one gene and environmental influences are involved. In some situations, though, a single well-characterized variant in a specific gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
There is not yet broadly confirmed evidence on specific factors that clearly increase or reduce health risk related to TMPRSS2 itself. Some TMPRSS2 changes have been studied in conditions such as prostate cancer and infections, but their effects can be small and depend on many other genes, age, sex, and overall health.
Inheritance of TMPRSS2 variants
There is not yet a broadly confirmed, disease-specific Mendelian inheritance pattern for the TMPRSS2 gene, so the TMPRSS2 inheritance pattern is not described in the same clear way as genes that cause a single inherited condition. TMPRSS2 is located on chromosome 21, which is an autosome, so you inherit one copy of the TMPRSS2 gene from each parent. That means any TMPRSS2 variant can be passed down through either side of the family.
What does my TMPRSS2 result mean for my family?
There is not yet a broadly confirmed inherited pattern tying TMPRSS2 changes to a specific, well-defined genetic condition in families. If you have a TMPRSS2 result and want to know what it could mean for relatives, a doctor or genetic counselor can help interpret it in the context of your personal and family history.
Genetic information
Genetic testing
How you find out about variants
TMPRSS2 genetic testing looks for variants in the TMPRSS2 gene using DNA from a blood or saliva sample, often as part of a broader gene panel or sequencing test. A laboratory reads the gene’s code, compares it with a reference sequence, and reports whether any variants were found.
When should I consider getting a genetic test?
There is not yet a broadly established reason to test the TMPRSS2 gene on its own in routine care. Decisions about genetic testing are usually based on your personal or family history and are best discussed with a doctor or genetic counselor.
A genetic result is only one part of your health story
A genetic result can provide useful insight, but how much it explains varies based on the condition and the specific type of variant. Lifestyle, environment, age, and medical history are among the many factors that influence how the body functions over time. For some conditions, especially those shaped by many genes, genetic information provides context rather than certainty and is best interpreted together with other parts of care. In other situations, a genetic result can offer a clear answer. In areas like medication response, genetic results may also help put personal experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Small differences in DNA can change how the body breaks down a drug, moves it through the body, or responds to it at its target. This helps explain why the same medication may work well for one person, have less effect in another, or cause more side effects in someone else.
What is Pharmacogenetics?
Pharmacogenetics is the area of study focused on how genetic differences affect the way people respond to medications. It examines links between genes and drugs to help explain why the same treatment can work differently in different people. For many medicines, genes influence either how powerfully a drug works or how the body handles it. This information can support treatment decisions that are both better informed and more individualized. More detailed information on this topic is available in the LearnHub.
Drugs influenced by the TMPRSS2 gene
When should I seek medical advice?
There is no broadly confirmed role for this gene in guiding medicine choices right now, so questions about side effects, treatment changes, or family health are best discussed with your doctor. TMPRSS2 has been studied in research on prostate cancer and COVID-19, but these findings are not used routinely to choose medicines.
History
TMPRSS2 first drew major research attention in the early 2000s, when scientists found that it was often fused with another gene, ERG, in prostate cancer tissue. That discovery helped reshape how doctors and researchers think about gene changes in prostate cancer. From these first observations, research expanded steadily. Public awareness rose again in 2020, when TMPRSS2 became widely discussed during the COVID-19 pandemic because of its role in how the virus enters cells. This shifted the gene from a specialist cancer topic into broader medical and public conversations. Today, TMPRSS2 is remembered as part of two important chapters in recent medicine: precision cancer research and the early search to understand COVID-19.