The CD38 gene helps cells send calcium-based signals and supports how immune cells work. In medicine, this gene is important because it helps regulate immune activity and insulin release. If the gene does not work well, some people may have changes in infection defense, inflammation, or blood sugar control. CD38 is also well known in cancer care because many myeloma cells have high levels of the CD38 protein, which makes it a useful treatment target.
What is a gene?
Genes are stretches of DNA that carry instructions your cells use to make molecules or guide processes in the body. Some genes provide the code for proteins, which are the working parts of cells. Others mainly help regulate when certain processes happen, where they take place, and how strongly they operate. Together, genes affect how the body develops and functions, and they can influence how you respond to food, stress, and medications. For a deeper look at this topic, you can read more in the LearnHub.
Overview
CD38Gene function
What if the gene works
The CD38 gene helps make a protein on many cells, especially immune cells. It supports cell signaling and helps control calcium, which affects immune responses and energy use.
Risk
What if the gene does not work
Milder to more severe variants in the CD38 gene can reduce how well cells break down NAD and make calcium signaling molecules. This may weaken communication between immune cells and other tissues that rely on CD38 activity.
Treatment
What does that mean for your treatment
No treatment or management approach specific to the CD38 gene is currently established for people with a pathogenic or loss-of-function variant in the CD38 gene. Separately, CD38 on cancer cells is an established drug target for antibodies such as daratumumab and isatuximab, and CD38-targeted strategies are also being studied in other conditions.
Gene function
What if the gene works
The CD38 gene helps cells pass signals, especially in the immune system. Its protein sits mainly on the cell surface, where it reshapes a helper molecule called NAD+ so signals can be sent at the right time. Knowing how the CD38 gene works in the body helps explain how cells coordinate everyday tasks.
The CD38 protein turns NAD+, a helper molecule used in cell energy and communication, into smaller signaling molecules. These molecules help cells pass messages in a controlled way.
Signals generated through CD38 help control calcium inside cells. Calcium acts like a quick internal cue, helping cells time actions such as secretion, movement, and activation.
Many immune cells display CD38 on their surface. It helps them receive signals, interact with other cells, and coordinate normal immune responses.
CD38 can also act as a surface signaling partner, not just an enzyme. This supports cell to cell contact and helps cells respond to their surroundings.
What is a variant?
A genetic variant is a minor change in the DNA sequence of a gene. These changes are common and help shape normal differences among people, such as appearance, metabolism, or the way the body responds to environmental influences. Many variants do not have any noticeable effect and are simply part of natural genetic variation. In some cases, though, a variant can change how a gene works more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
How variants influence the CD38 gene's function depends on the change itself: some alter the protein's shape, stability, or how much of it reaches the cell surface, which can lower its chemical activity and change signaling between cells. Milder variants may only partly reduce activity or binding, while more severe variants can disrupt folding or truncate the protein, leaving very little or no function.
How variants are linked to conditions
The CD38 gene does not yet have a broadly confirmed link to a specific health condition, although research on CD38 gene variants linked to conditions is still evolving. If you carry a variant in the CD38 gene, its meaning is best interpreted alongside your personal and family history with help from your doctor or genetic counselor.
A variant is not necessarily a diagnosis
Genetic variants are a routine part of human biology and are common throughout the general population. Most do not have a direct effect on health and simply reflect natural human diversity. For many genes, carrying a variant associated with a condition indicates a possible link rather than a confirmed diagnosis, especially when multiple genes and environmental factors contribute. 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 increase or reduce health risk related to the CD38 gene itself. CD38 can be part of research on immune function and some blood cancers, but personal risk usually depends on many genes, age, and overall health as well.
Inheritance of CD38 variants
There is not yet a broadly confirmed Mendelian pattern for how CD38 gene variants are inherited in relation to a specific CD38 related condition, because most reported CD38 changes are studied as possible risk factors rather than clear single gene causes of disease. In practical terms, discussions of how CD38 gene variants are inherited usually stay cautious for that reason. The CD38 gene is located on chromosome 4, which is an autosome, so you inherit one copy from each parent.
What does my CD38 result mean for my family?
There is not yet a broadly confirmed family inheritance pattern tied to a specific condition for the CD38 gene, though this can change as research develops. If you have a specific CD38 result and want to understand what it could mean for 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
To find out whether you carry a variant in the CD38 gene, a lab studies DNA from blood or saliva. In simple terms, this is how CD38 genetic testing works: the gene’s sequence is compared with a usual reference sequence, and results may show a benign variant, an uncertain finding, or a variant linked to health effects.
When should I consider getting a genetic test?
There is not yet a broadly established, CD38-specific reason for genetic testing in routine care. Decisions about testing are best made with a doctor or genetic counselor, based on your symptoms, medical history, and family history.
A genetic result is only one part of your health story
A genetic finding can provide meaningful information, but how much it explains varies based on the condition and the type of variant involved. Many factors, including lifestyle, environment, age, and medical history, 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 understood together with other parts of care. In other situations, a genetic result can offer a clear answer. In areas such as 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 its target. This is common and helps explain why the same treatment may work well for one person, work less well for another, or cause more side effects in some people.
What is Pharmacogenetics?
Pharmacogenetics focuses on how genetic differences can shape a person’s response to medication. It examines links between genes and drugs to help explain why the same treatment can work differently in different people. With many medications, genes affect either how strongly a drug works or how the body processes it. This information can support more informed, individualized treatment decisions. More on this topic is available in the LearnHub.
Drugs influenced by the CD38 gene
When should I seek medical advice?
There isn't yet a broadly confirmed role for this gene in guiding medication choice or dose, so general questions about medicines, side effects, or treatment changes are best discussed with your doctor. CD38 is better known as a treatment target in some blood cancers than as a gene used in routine drug-response testing.
History
The CD38 gene entered medical research through studies of blood cells in the late 20th century, when scientists were sorting cell surface markers that help identify different immune cells. First described in the scientific literature as part of early genetics, it became especially important in leukemia and lymphoma research because its protein could be measured on the outside of cells. From these first observations, research expanded steadily, and CD38 became a standard marker used in immunology labs and blood cancer testing. Interest grew further when treatments were developed to target CD38 in multiple myeloma. That step moved the CD38 gene from a research marker into everyday clinical care, where it now plays a recognized role in diagnosis and treatment planning.