GENE REFERENCE / HGNC:25118

OTULIN

OTU deubiquitinase with linear linkage specificity

protein-coding gene5p15.2Gene information

What does this gene do?

The OTULIN gene provides instructions for making a protein that helps regulate inflammation, which is part of the body's early immune response to foreign invaders. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight the invaders and facilitate tissue repair. Inflammation can be turned on by a cellular process called ubiquitination, in which molecules called ubiquitin are attached to certain proteins. When foreign invaders are recognized, chains of ubiquitin molecules linked end-to-end, called linear ubiquitin chains, are attached to particular proteins. The addition of these chains stimulates signaling pathways that result in inflammation. Once the infection is under control, the body stops the inflammatory response to prevent damage to its own cells and tissues. The OTULIN protein helps control inflammation by removing linear ubiquitin chains.

In addition to inflammation, the OTULIN protein is thought to be involved in regulating development before birth and controlling cell death. Researchers are working to understand the protein's role in these processes.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2016-12.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessiveMONDO:0014912 · Evaluated 2026-05-19	Autosomal recessive	DefinitiveMonogenic Autoinflammatory Diseases Gene Curation Expert Panel

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: 665
Submissions for variants in or overlapping this gene: 1,071
Submissions explicitly reporting this gene: 414
Alleles reported pathogenic / likely pathogenic: 21
VariationIDs with uncertain significance: 262
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 OTULIN?

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 OTULIN 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 OTULIN.

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

Buy BioDecode See a sample report →Check file compatibility →