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Reviewed December 2012
What is the official name of the EVC2 gene?
The official name of this gene is “Ellis van Creveld syndrome 2.”
EVC2 is the gene's official symbol. The EVC2 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 EVC2 gene?
The EVC2 gene provides instructions for making a protein whose function is unknown. However, it appears to be important for normal growth and development, particularly the development of bones and teeth. The EVC2 protein is found in primary cilia, which are microscopic, finger-like projections that stick out from the surface of cells and are involved in signaling pathways that transmit information between cells. In particular, the EVC2 protein is thought to help regulate a signaling pathway known as Sonic Hedgehog, which plays roles in cell growth, cell specialization, and the normal shaping (patterning) of many parts of the body.
EVC2 and another gene, EVC, are located very close together on chromosome 4. Researchers believe that the two genes may have related functions and that their activity may be coordinated.
How are changes in the EVC2 gene related to health conditions?
Where is the EVC2 gene located?
Cytogenetic Location: 4p16.2-p16.1
Molecular Location on chromosome 4: base pairs 5,544,530 to 5,711,274
The EVC2 gene is located on the short (p) arm of chromosome 4 between positions 16.2 and 16.1.
More precisely, the EVC2 gene is located from base pair 5,544,530 to base pair 5,711,274 on chromosome 4.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about EVC2?
You and your healthcare professional may find the following resources about EVC2 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 EVC2 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 EVC2?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 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.