GENE REFERENCE / HGNC:18337

PADI3

peptidyl arginine deiminase 3

protein-coding gene1p36.13Gene information

What does this gene do?

The PADI3 gene provides instructions for making an enzyme called peptidylarginine deiminase type III. This enzyme modifies proteins by changing certain protein building blocks (amino acids). Specifically, it changes the positively charged amino acid arginine to the neutral amino acid citrulline when positively charged calcium atoms (ions) are present. This process is called deimination. In most cases, deimination alters the protein's interactions with other proteins.

Peptidylarginine deiminase type III is found in the skin's tough outer surface (the stratum corneum), within cells called keratinocytes. The protein also functions in hair follicles, which are specialized structures in the skin where hair growth occurs. In hair follicles, peptidylarginine deiminase type III modifies proteins involved in giving structure to the hair strand (shaft).

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2017-05.

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: 191
Submissions for variants in or overlapping this gene: 240
Submissions explicitly reporting this gene: 212
Alleles reported pathogenic / likely pathogenic: 9
VariationIDs with uncertain significance: 127
VariationIDs with conflicting classifications: 3

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 PADI3?

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 9 alleles in PADI3 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 PADI3.

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

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