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Gene

OTULIN

OTU deubiquitinase with linear linkage specificity

Summary

Cytogenetic location
5p15.2
Coordinates
Chromosome 5: 14,664,718–14,699,850 (GRCh38)
Exons
7 exons across 35.1 kb
Protein
352 amino acids
Inheritance
Autosomal recessive
Also known as
FLJ34884
Previous symbols
FAM105B
MANE Select transcript
ENST00000284274.5NM_138348.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Rare Monogenic Autoinflammatory Diseases

    • Otulipenia (ORAS)Autosomal recessive

      Fevers, painful skin nodules, diarrhoea and joint pain from infancy, caused by OTULIN deficiency.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

Inheritance

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 OTULIN is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 5, with a bracket where OTULIN sits. OTULIN and 3 genes near it on chromosome 5, from 14,182,284 to 15,182,283.Chromosome 55p15.2p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.314.2 Mb14.4 Mb14.6 Mb14.8 Mb15 MbTRIO: 14,143,223–14,532,128, forward strandTRIOOTULINL: 14,581,792–14,616,180, forward strandOTULINLOTULIN: 14,664,718–14,699,850, forward strandOTULINANKH: 14,704,800–14,871,949, reverse strandANKHDiagram of OTULIN: 7 exons on the forward strand of chromosome 5Exon 1: 1 known disease-causing siteExon 1: 14,664,718–14,664,977, 260 basesExon 2: 14,673,642–14,673,718, 77 basesExon 3: 14,678,681–14,678,775, 95 basesExon 4: 14,681,464–14,681,607, 144 basesExon 5: 14,687,521–14,687,646, 126 basesExon 6: 14,690,039–14,690,308, 270 basesExon 7: 14,692,854–14,699,850, 6,997 bases12345675′3′

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 8 kb of the gene's 35.1 kb; 1,059 of those bases code for the protein.

How a genome test reads OTULIN

2

positions in OTULIN where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 35.1 kb of OTULIN, introns included, not only the 8 kb of exons.

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

APA

Dante Labs. (n.d.). OTULIN gene: OTU deubiquitinase with linear linkage specificity. Retrieved 17 October 2026, from https://dantelabs.com/genes/otulin

Vancouver

Dante Labs. OTULIN gene: OTU deubiquitinase with linear linkage specificity [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/otulin

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