The POSTN gene makes periostin, a protein that supports connective tissues and helps the body repair bone, skin, airways, and the heart after strain or injury. When this gene does not work as expected, tissue support and healing may be less well coordinated, and some people may have changes in bone or tooth development or a tendency toward airway inflammation. Many variants in this gene are harmless, while a smaller number can affect how these tissues respond over time.
What is a gene?
A gene is a stretch of DNA that carries instructions your cells use to make molecules or regulate processes in the body. Some genes provide the information needed to produce proteins, the functional parts of cells. Others mainly help determine when certain processes happen, where they take place, and how strongly they operate. Together, genes affect how the body develops and works, and they can also influence how you respond to food, stress, or medications. To go further into this subject, you can find more in the LearnHub.
Overview
POSTNGene function
What if the gene works
The POSTN gene helps make periostin, a support protein in connective tissues. It helps cells attach, move, and rebuild tissue, especially in bone, skin, gums, and the heart.
Risk
What if the gene does not work
Changes in the POSTN gene can range from milder to more severe and may reduce how well periostin helps cells attach to and organize surrounding support tissue. This can weaken cell signaling and tissue remodeling, especially during repair.
Treatment
What does that mean for your treatment
No treatment or drug choice based specifically on a pathogenic or loss-of-function variant in the POSTN gene is currently established. The POSTN gene is being studied as a biomarker and possible drug target in asthma, tissue scarring, and some cancers, but this has not led to routine guideline-based treatment changes.
Gene function
What if the gene works
If you carry the POSTN gene, it helps your body build and maintain strong connective tissues such as bone, skin, and the tissues around teeth. Its protein works mostly outside cells, where it supports the surrounding framework and cell communication. This helps explain how the POSTN gene supports connective tissues during normal growth and routine renewal.
The POSTN gene helps organize the material around cells, especially in tissues that need strength and flexibility. Its protein supports the extracellular matrix (the supportive mesh around cells) so tissues can keep their structure.
One of its main roles is to help collagen fibers line up and form in an orderly way. This gives tissues like bone, skin, and tendons more stable support during everyday wear and renewal.
POSTN protein attaches to cell surface partners and passes along signals that guide how cells stick, move, and respond to their surroundings. These signals help cells work together as tissues grow and remodel.
In bone, the POSTN gene supports the activity of cells that shape and maintain the bone framework. It helps bone tissue respond to normal mechanical stress, such as walking, lifting, and chewing.
What is a variant?
A genetic variant is a small difference in the DNA sequence of a gene. These differences are common and are part of normal human diversity, including variation in appearance, metabolism, and how the body responds to environmental influences. Many variants have no noticeable effect and simply represent natural genetic variation. Sometimes, however, a variant can affect a gene’s function more strongly and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
In discussions of what happens if the POSTN gene does not work, the effects often depend on the variant. Milder POSTN gene variants may only partly change periostin folding, splicing, or secretion, while more disruptive variants can sharply reduce the amount of protein made or leave a shortened protein that cannot attach normally to the support material around cells or to cell surface attachment proteins. These changes can weaken protein stability and cell signaling.
How variants are linked to conditions
Research on POSTN gene variants and health conditions is still developing, and the POSTN gene does not yet have a broadly confirmed link to a specific inherited condition. If you carry a POSTN variant or have a POSTN-related result on genetic testing, your doctor or genetic counselor can explain what it may mean in the context of your own health and family history.
A variant is not necessarily a diagnosis
Gene variants are a normal feature of human biology and are common throughout the general population. Most do not have a direct impact on health and instead reflect natural human diversity. For many genes, carrying a variant associated with a condition indicates a possible link rather than a definite diagnosis, especially when more than one gene and environmental factors play a role. In some situations, though, a single well-characterized variant in a specific gene can be 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 POSTN gene. Changes in risk are more likely to depend on the particular health condition being considered, along with other genes and everyday factors such as environment and overall health.
Inheritance of POSTN variants
There is not yet a broadly confirmed inheritance pattern tied to a specific condition for the POSTN gene, though research is still evolving. For that reason, POSTN gene inheritance is not usually described with a single well-established pattern such as autosomal dominant or autosomal recessive. The POSTN gene is located on chromosome 13, which is an autosome, so you inherit one copy from each parent.
What does my POSTN result mean for my family?
There is not yet a broadly confirmed inherited pattern tied to a specific well-established POSTN-related condition. If you have a specific POSTN result and want to understand what it could mean for your relatives, a doctor or genetic counselor can help explain it in the context of your personal and family history.
Genetic information
Genetic testing
How you find out about variants
POSTN gene testing can show whether you carry a variant in the POSTN gene. It is usually done on a blood or saliva sample, using DNA sequencing to read the gene’s code, and the result may report no variant found, a benign change, or a variant linked to a health condition.
When should I consider getting a genetic test?
There isn't yet a broadly established, POSTN-specific clinical reason for genetic testing. Decisions about testing are usually based on your personal health history, symptoms, and family history, together with a doctor or genetic counselor.
A genetic result is only one part of your health story
Genetic results can be informative, but how much they explain varies by the condition and the type of variant involved. Lifestyle, environment, age, and medical history, among other factors, also shape how the body functions over time. For some conditions, especially those influenced by many genes, genetic information offers context rather than certainty and is best considered alongside other parts of care. In other situations, a genetic result may give a clear answer. In areas like medication response, genetic results can also help put individual 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 the target it is meant to affect. This helps explain why the same medication may work well for one person, seem less effective for another, or cause more side effects in someone else.
What is Pharmacogenetics?
Pharmacogenetics looks at how differences in genes can affect the way a person responds to medication. It studies the relationship 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 strongly a drug works or how the body handles it. This information can help support treatment decisions that are more informed and more personalized. More on this topic is available in the LearnHub.
Drugs influenced by the POSTN gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding how medicines are chosen or used, so any concerns about symptoms, side effects, or how well a treatment is working are best discussed with your doctor.
History
The POSTN gene entered the medical literature in the 1990s, when researchers studying bone forming cells identified a protein first called osteoblast specific factor 2. It was later renamed periostin after scientists found it in tissues around the tooth and bone covering called the periosteum. Early reports linked it mainly to bone and connective tissue, but that view widened as studies connected it to heart repair, airway inflammation, and some cancers. Over time, scientists’ understanding of the gene’s function has changed. From these first observations, research expanded steadily, and periostin became a useful marker in studies of asthma and tissue remodeling. This history reflects how one gene moved from a narrow discovery in bone biology to broader importance across several fields of medicine.