OTUD6B

Chr 8q21.3

OTU deubiquitinase 6B

Aliases:: CGI-77, DUBA5
MANE:: ENST00000404789.8

OMIM: 612021 ↗NCBI: 51633 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

OTUD6B · Q8N6M0

v62025-08-01

Predicted Aligned Error matrix for OTUD6B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.9/ 100

Confident

293 residues

Confidence breakdown

Very high(≥ 90)59%
Confident(70–90)26%
Low(50–70)3%
Very low(< 50)12%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
0.78
Intellectual disability
0.49
epilepsy
0.48
hereditary disease
0.47
syndromic intellectual disability
0.37
neurodegenerative disease
0.37
cancer
0.10
nonpapillary renal cell carcinoma
0.10
colorectal carcinoma
0.09
breast cancer
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Deubiquitinase OTUD6B

Deubiquitinating enzyme that may play a role in the ubiquitin-dependent regulation of protein synthesis, downstream of mTORC1 (PubMed:21267069, PubMed:27864334). May associate with the protein synthesis initiation complex and modify its ubiquitination to repress translation (PubMed:27864334). May also repress DNA synthesis and modify different cellular targets thereby regulating cell growth and proliferation (PubMed:27864334). May also play a role in proteasome assembly and function (PubMed:28343629)