DSC2

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What is the official name of the DSC2 gene?

The official name of this gene is “desmocollin 2.”

DSC2 is the gene's official symbol. The DSC2 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 DSC2 gene?

The DSC2 gene provides instructions for making a protein called desmocollin-2. This protein is found in many tissues, although it appears to be particularly important in the heart muscle and skin. Desmocollin-2 is a major component of specialized structures called desmosomes. These structures help hold neighboring cells together, which provides strength and stability to tissues. Desmosomes may also be involved in other critical cell functions, including chemical signaling pathways, the process by which cells mature to perform specific functions (differentiation), and the self-destruction of cells (apoptosis).

Does the DSC2 gene share characteristics with other genes?

The DSC2 gene belongs to a family of genes called CDH (cadherins).

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 DSC2 gene related to health conditions?

keratoderma with woolly hair - caused by mutations in the DSC2 gene: At least one mutation in the DSC2 gene has been found to cause a form of keratoderma with woolly hair classified as type III. It is characterized by thick, calloused skin on the palms of the hands and soles of the feet (palmoplantar keratoderma); coarse, dry, fine, and tightly curled hair; and a potentially life-threatening form of heart disease called arrhythmogenic right ventricular cardiomyopathy (ARVC).
The known mutation, which is written as 1841delG, deletes one DNA building block (base pair) from the DSC2 gene. The resulting abnormal version of the desmocollin-2 protein alters the structure of desmosomes, preventing cells from attaching to one another effectively. Researchers suspect that the impaired connections between cells make the skin, hair, and heart muscle more fragile. Over time, as these tissues are exposed to mechanical stress (for example, friction on the surface of the skin or the constant contraction and relaxation of the heart muscle), they become damaged and can no longer function normally. This mechanism probably underlies the skin, hair, and heart problems that occur in keratoderma with woolly hair type III. Studies suggest that abnormal cell signaling may also contribute to cardiomyopathy in people with this condition.
Several other mutations in the DSC2 gene cause ARVC without palmoplantar keratoderma or woolly hair. It is unclear why some mutations in this gene affect the skin and hair, while others do not.

Genetics Home Reference provides information about arrhythmogenic right ventricular cardiomyopathy, which is also associated with changes in the DSC2 gene.

Where is the DSC2 gene located?

Cytogenetic Location: 18q12.1

Molecular Location on chromosome 18: base pairs 31,065,974 to 31,102,432

The DSC2 gene is located on the long (q) arm of chromosome 18 at position 12.1.

More precisely, the DSC2 gene is located from base pair 31,065,974 to base pair 31,102,432 on chromosome 18.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about DSC2?

You and your healthcare professional may find the following resources about DSC2 helpful.

Educational resources - Information pages (2 links)
Gene Reviews - Clinical summary
Genetic Testing Registry - Repository of genetic test information (1 link)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

PubMed - Recent literature
OMIM - Genetic disorder catalog (2 links)
Research Resources - Tools for researchers (5 links)

What other names do people use for the DSC2 gene or gene products?

ARVD11
cadherin family member 2
CDHF2
desmocollin-2 isoform Dsc2a preproprotein
desmocollin-2 isoform Dsc2b preproprotein
desmosomal glycoprotein II/III
DG2
DGII/III
DSC3

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 DSC2?

apoptosis ; base pair ; cardiomyopathy ; cell ; contraction ; differentiation ; DNA ; gene ;keratoderma ; mutation ; palmoplantar keratoderma ; protein ; stress

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (8 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