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Reviewed July 2012
What is the official name of the NOD2 gene?
The official name of this gene is “nucleotide-binding oligomerization domain containing 2.”
NOD2 is the gene's official symbol. The NOD2 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the NOD2 gene?
The NOD2 gene provides instructions for making a protein that plays an important role in immune system function. The NOD2 protein is active in some types of immune system cells (including monocytes, macrophages, and dendritic cells), which help protect the body against foreign invaders such as viruses and bacteria. The protein is also active in several types of epithelial cells, including Paneth cells, which are found in the lining of the intestine. These cells help defend the intestinal wall against bacterial infection.
The NOD2 protein has several critical functions in defending the body against foreign invaders. The protein is involved in recognizing certain bacteria and stimulating the immune system to respond properly. When triggered by specific substances produced by bacteria, the NOD2 protein turns on (activates) a protein complex called nuclear factor-kappa-B. This protein complex regulates the activity of multiple genes, including genes that control immune responses and inflammatory reactions. An inflammatory reaction occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair.
The NOD2 protein also appears to play a role in a process called autophagy, which cells use to surround and destroy bacteria and viruses. In addition to protecting cells from infection, autophagy is used to recycle worn-out cell parts and break down certain proteins when they are no longer needed. This process is also involved in the self-destruction of cells (apoptosis).
Does the NOD2 gene share characteristics with other genes?
The NOD2 gene belongs to a family of genes called NLR (nucleotide-binding domain and leucine rich repeat containing family).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the NOD2 gene related to health conditions?
Where is the NOD2 gene located?
Cytogenetic Location: 16q21
Molecular Location on chromosome 16: base pairs 50,693,581 to 50,733,081
The NOD2 gene is located on the long (q) arm of chromosome 16 at position 21.
More precisely, the NOD2 gene is located from base pair 50,693,581 to base pair 50,733,081 on chromosome 16.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about NOD2?
You and your healthcare professional may find the following resources about NOD2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the NOD2 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding NOD2?
acids ; allogeneic ; allogeneic stem cell transplantation ; apoptosis ; autophagy ; bacteria ; cancer ; caspase ; cell ; chronic ; digestive ; digestive system ; domain ; epithelial ; gene ; graft-versus-host disease ; GVHD ; ileum ; immune response ; immune system ; infection ; inflammation ; inherited ; injury ; innate immunity ; intestine ; juvenile ; nucleotide ; protein ; sarcoidosis ; stem cells ; syndrome ; tissue ; white blood cells
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (17 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.