The TMEM116 gene makes a protein found in cell membranes, the thin layers that surround cells. This gene helps your body manage basic cell signaling and other membrane tasks. If it does not work as expected, cells may not communicate or regulate their activity as smoothly. Altered TMEM116 activity has also been linked in studies to changes in cell growth in some cancers.
What is a gene?
Genes are stretches of DNA that give your cells instructions for making molecules or regulating processes in the body. Some genes carry the information needed to produce proteins, the parts of cells that do much of the work. Others mainly help determine when certain processes happen, where they take place, and how active they are. Taken together, genes affect how the body develops and works, and they can influence how you respond to food, stress, or medications. More on this topic is available in the LearnHub.
Overview
TMEM116Gene function
What if the gene works
TMEM116 gives cells instructions for making a protein in the cell membrane. Its protein appears to support normal cell activity and cell-to-cell signaling.
Risk
What if the gene does not work
Changes in the TMEM116 gene can reduce how much TMEM116 protein cells make or alter its shape in cell membranes. Milder and more severe variants may lower its activity to different degrees and change how it interacts with nearby proteins.
Treatment
What does that mean for your treatment
A pathogenic or loss-of-function variant in the TMEM116 gene does not currently change treatment through any established, guideline-based TMEM116-specific therapy or drug selection approach. Care is guided by the person's symptoms and overall diagnosis rather than a medicine directed at TMEM116.
Gene function
What if the gene works
TMEM116 helps your cells make a protein that sits in cell membranes, the thin layers that separate a cell from its surroundings. When this gene works properly, cells can place that protein in the right membrane location for routine cell activity. Understanding how the TMEM116 gene works helps show how cells organize membrane based jobs each day.
TMEM116 makes a protein that becomes part of a cell membrane. This is central to how the TMEM116 gene works in cells day to day.
What is a variant?
A genetic variant is a small difference in the DNA sequence within a gene. These differences are common and help shape normal human diversity, such as variation in appearance, metabolism, or how the body responds to environmental influences. Many variants do not have any noticeable effect and are simply part of natural genetic variation. In some situations, though, a variant can change how a gene functions more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the TMEM116 gene can change how much TMEM116 protein a cell makes, how stable that protein is, or whether it reaches the right place in the cell membrane. In practical terms, how TMEM116 gene variants affect protein function often depends on the type of DNA change. Milder variants may slightly alter the protein’s shape or behavior, while more severe variants can sharply reduce protein production or create a shortened protein that works poorly or not at all.
How variants are linked to conditions
Right now, the TMEM116 gene does not yet have a broadly confirmed link to a specific health condition, although research can evolve over time. Information on TMEM116 gene variants and health conditions is still emerging, so anyone with a confirmed TMEM116 finding should use guidance from their doctor or genetic counselor to understand what it may mean for them.
A variant is not necessarily a diagnosis
Genetic variants are common across the general population and are a normal feature of human biology. Most do not directly affect health and instead reflect natural human diversity. For many genes, having a variant associated with a condition points to a possible link rather than confirming a diagnosis, particularly when several genes and environmental influences play a role. In some situations, though, one well described variant in a particular 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 increase or reduce health risk related to the TMEM116 gene. Anyone with questions about personal or family risk can speak with a doctor or genetic counselor for advice based on their own health history.
Inheritance of TMEM116 variants
There is not yet a broadly confirmed disease-specific TMEM116 gene inheritance pattern, though this can become clearer as research develops. For people looking into TMEM116 gene inheritance, TMEM116 is located on an autosome rather than a sex chromosome, so each person inherits one copy of the TMEM116 gene from each parent.
What does my TMEM116 result mean for my family?
There is not yet a broadly confirmed inheritance pattern tied to a specific health condition for TMEM116, although this can change as research grows. If you have a TMEM116 result and want to understand what it could mean for close relatives, a doctor or genetic counselor can review the exact finding in the context of your family history.
Genetic information
Genetic testing
How you find out about variants
To look for variants in the TMEM116 gene, genetic testing uses DNA from blood, saliva, or a cheek swab. TMEM116 genetic testing may be done through exome or genome sequencing, which reads the DNA code and compares it with the usual sequence. Results may show no variant, a pathogenic variant, or a variant of uncertain significance.
When should I consider getting a genetic test?
There isn't yet a broadly established TMEM116-specific clinical reason for testing. Decisions about genetic testing are usually based on your symptoms, family history, and the broader question a doctor or genetic counselor is trying to answer.
A genetic result is only one part of your health story
A genetic result can provide valuable information, but how much it reveals depends on the condition and the specific type of variant present. How the body functions over time is also shaped by many factors, including lifestyle, environment, age, and medical history. In some conditions, especially those influenced by many genes, genetic information provides context rather than certainty and is most useful when considered together with other parts of care. In other situations, a genetic result may offer a clear answer. In areas like medication response, genetic results can also help put personal experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. This helps explain why the same drug may work well for one person, have less effect in another, or cause more side effects in someone else. Part of the reason is that inherited differences can change how the body breaks down, transports, or responds to a medication, and these differences are common.
What is Pharmacogenetics?
Pharmacogenetics focuses on how differences in a person’s genes can affect their response to medications. It examines links between genes and drugs to help explain why the same treatment may work differently from one person to another. For many medicines, genes can influence how the body processes a drug or how strongly it works. This information can support more informed and more individualized treatment decisions. To explore this subject in greater detail, you can learn more in the LearnHub.
Drugs influenced by the TMEM116 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication choices. If you have side effects, trouble finding a medicine that works, or questions about how your medicines may affect you, talk with your doctor or pharmacist.