OTUD6B

Chr 8AR

OTU deubiquitinase 6B

Also known as: CGI-77, DUBA-5, DUBA5, IDDFSDA

NCBI Gene: 51633 ENSG00000155100 UniProt: Q8N6M0 OMIM: 612021

This gene encodes a deubiquitinating enzyme that removes ubiquitin from proteins and regulates protein synthesis, cell growth, and proliferation. Mutations cause autosomal recessive intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies. The gene is not highly constrained against loss-of-function variants (pLI near 0), which is consistent with the recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Deubiquitinating enzymes are primarily involved in removing ubiquitin from proteins targeted for degradation. This protein may function as a negative regulator of the cell cycle in B cells. [provided by RefSeq, Nov 2013]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomaliesMIM #617452

Clinical highlights

Gene-disease validity (ClinGen)

syndromic intellectual disability · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.32

LOEUF

LOF

Mechanism· G2P