GENE REFERENCE / HGNC:21307

DSG4

desmoglein 4

protein-coding gene18q12.1Gene information

What does this gene do?

The DSG4 gene provides instructions for making a protein called desmoglein 4 (DSG4). This protein is found in specialized structures called desmosomes that are located in the membrane surrounding certain cells. Desmosomes help attach cells to one another and play a role in communication between cells. The DSG4 protein is found in cells in certain regions of hair follicles, including the inner compartment of the hair strand (shaft) known as the cortex. Hair growth occurs at the hair follicle when cells divide and the hair shaft is pushed upward and extends beyond the skin.

Desmosomes provide strength to the hair and are involved in signaling between neighboring cells within the hair shaft. The DSG4 protein may play a role in communicating the signals for cells to mature (differentiate) and form the hair shaft. In addition, the DSG4 protein is found in the upper layers of the skin where it provides strength and communicates signals for the skin cells to mature.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-04-10. Source review: 2013-04.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 392
Submissions for variants in or overlapping this gene: 547
Submissions explicitly reporting this gene: 491
Alleles reported pathogenic / likely pathogenic: 21
VariationIDs with uncertain significance: 206
VariationIDs with conflicting classifications: 34

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about DSG4?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 21 alleles in DSG4 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in DSG4.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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