GENE REFERENCE / HGNC:11781

TGM5

transglutaminase 5

protein-coding gene15q15.2Gene information

What does this gene do?

The TGM5 gene provides instructions for making an enzyme called transglutaminase 5. This enzyme is found in many of the body's tissues, although it seems to play a key role in the outer layer of skin (the epidermis). In the epidermis, transglutaminase 5 is involved in the formation of a structure called the cornified cell envelope, which surrounds epidermal cells and helps the skin form a protective barrier between the body and its environment. Specifically, transglutaminase 5 forms strong bonds, called cross-links, between the structural proteins that make up the cornified cell envelope. This cross-linking provides strength and stability to the epidermis.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-09-06. Source review: 2023-09.

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: 246
Submissions for variants in or overlapping this gene: 383
Submissions explicitly reporting this gene: 346
Alleles reported pathogenic / likely pathogenic: 28
VariationIDs with uncertain significance: 144
VariationIDs with conflicting classifications: 13

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 TGM5?

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 28 alleles in TGM5 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 TGM5.

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

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