Gene
USP18
ubiquitin specific peptidase 18
- HGNC 12616(opens in a new tab)
- Ensembl gene ENSG00000184979(opens in a new tab)
- NCBI Gene 11274(opens in a new tab)
Summary
- Cytogenetic location
- 22q11.21
- Coordinates
- Chromosome 22: 18,150,170–18,177,397 (GRCh38)
- Exons
- 11 exons across 27.2 kb
- Protein
- 372 amino acids
- Inheritance
- Autosomal dominant Autosomal recessive
- MANE Select transcript
- ENST00000215794.8NM_017414.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Rare Monogenic Autoinflammatory Diseases
- PTPN2-related autoinflammation and autoimmunityAutosomal dominant
Early-onset inflammatory and autoimmune disease, including colitis and arthritis, caused by variants in PTPN2.
- 4 GenCC submitters rate it definitive or strong
Type I Interferonopathies
- Pseudo-TORCH syndrome 2Autosomal recessive
Severe infant-onset brain inflammation and calcification resembling congenital infection, caused by USP18 deficiency.
- 4 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How USP18 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.9 kb of the gene's 27.2 kb; 1,119 of those bases code for the protein.
How a genome test reads USP18
3
positions in USP18 where ClinVar classes a change as pathogenic or likely pathogenic
3 of them (100%) fall in regions short reads find hard.
- Low mappability (3 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
- Segmental duplications (3 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 27.2 kb of USP18, introns included, not only the 1.9 kb of exons.
Traits linked to USP18
The Human Phenotype Ontology lists these as features of the rare conditions USP18 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). USP18 gene: ubiquitin specific peptidase 18. Retrieved 17 October 2026, from https://dantelabs.com/genes/usp18
Dante Labs. USP18 gene: ubiquitin specific peptidase 18 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/usp18
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