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DSG2

DSG2

The information on this page was automatically extracted from online scientific databases.

What is the official name of the DSG2 gene?

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

DSG2 is the gene's official symbol. The DSG2 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 DSG2 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jan 2016]

From UniProt (DSG2_HUMAN)This link leads to a site outside Genetics Home Reference.:

Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.

How are changes in the DSG2 gene related to health conditions?

Genetics Home Reference provides information about these conditions associated with changes in the DSG2 gene:
UniProt (DSG2_HUMAN)This link leads to a site outside Genetics Home Reference. provides the following information about the DSG2 gene's known or predicted involvement in human disease.

Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10): A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. The disease is caused by mutations affecting the gene represented in this entry.

Cardiomyopathy, dilated 1BB (CMD1BB): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Disease susceptibility is associated with variations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the DSG2 gene.
  • Arrhythmogenic right ventricular cardiomyopathy, type 10
  • Dilated cardiomyopathy 1BB
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the DSG2 gene and its association with health conditions.
OMIM
Number
Title

Where is the DSG2 gene located?

Cytogenetic Location: 18q12.1

Molecular Location on chromosome 18: base pairs 31,498,064 to 31,548,851

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The DSG2 gene is located on the long (q) arm of chromosome 18 at position 12.1.

The DSG2 gene is located on the long (q) arm of chromosome 18 at position 12.1.

More precisely, the DSG2 gene is located from base pair 31,498,064 to base pair 31,548,851 on chromosome 18.

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

Where can I find additional information about DSG2?

You and your healthcare professional may find the following resources about DSG2 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 DSG2 gene or gene products?

  • CDHF5
  • HDGC

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 DSG2?

 

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.

 
Published: February 8, 2016