OTUD7B

protein-coding

OTU deubiquitinase 7B, the group of OTU domain containing

Gene summary

Enables K48-linked deubiquitinase activity and cysteine-type deubiquitinase activity. Involved in several processes, including negative regulation of protein localization to nucleus; protein deubiquitination; and regulation of intracellular signal transduction. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:
  • ZA20D1

MANE transcript

NM_020205.4

Inheritance

—

ClinVar variants

U:126B:7

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr1:149,937,812-150,010,726

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~72.9 kb
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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to OTUD7B variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 124
not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_020205.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
3
clinvar
4
missense
122
clinvar
3
clinvar
125
nonsense
1
clinvar
1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
3
clinvar
3
Total0012643133
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 31 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_020205.4RefSeqNP_064590.211MANE Select
ENST00000581312.6EnsemblENSP00000462729.111MANE Select
ENST00000417191.2EnsemblENSP00000408231.110Standard
ENST00000907908.1EnsemblENSP00000577967.111Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / ModelOrganismObserved Phenotype
otud7bDanio rerio

Structure: neuron

Quality: hyperplastic

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • TNF alpha Signaling Pathway
  • Signal Transduction
  • Post-translational protein modification
  • Metabolism of proteins
  • TNFR1-induced NFkappaB signaling pathway

Biological Process

  • negative regulation of transcription by RNA polymerase II
  • adaptive immune response
  • mucosal immune response
  • protein deubiquitination
  • negative regulation of interleukin-8 production

Molecular Function

  • DNA binding
  • thiol-dependent ubiquitin-specific protease activity
  • protein binding
  • cysteine-type peptidase activity
  • zinc ion binding

Cellular Component

  • nucleus
  • cytoplasm
  • cytosol

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Negative regulator of the non-canonical NF-kappa-B pathway that acts by mediating deubiquitination of TRAF3, an inhibitor of the NF-kappa-B pathway, thereby acting as a negative regulator of B-cell responses. In response to non-canonical NF- kappa-B stimuli, deubiquitinates 'Lys-48'-linked polyubiquitin chains of TRAF3, preventing TRAF3 proteolysis and over-activation of non-canonical NF-kappa-B. Negatively regulates mucosal immunity against infections (By similarity). Deubiquitinates ZAP70, and thereby regulates T cell receptor (TCR) signaling that leads to the activation of NF-kappa-B (PubMed:26903241). Plays a role in T cell homeostasis and is required for normal T cell responses, including production of IFNG and IL2 (By similarity). Mediates deubiquitination of EGFR (PubMed:22179831). Has deubiquitinating activity toward 'Lys-11', 'Lys-48' and 'Lys-63'-linked polyubiquitin chains (PubMed:27732584). Has a much higher catalytic rate with 'Lys-11'-linked polyubiquitin chains (in vitro); however the physiological significance of these data are unsure (PubMed:27732584). Hydrolyzes both linear and branched forms of polyubiquitin. {ECO:0000250|UniProtKB:B2RUR8, ECO:0000269|PubMed:11463333, ECO:0000269|PubMed:12682062, ECO:0000269|PubMed:18178551, ECO:0000269|PubMed:20622874, ECO:0000269|PubMed:22179831, ECO:0000269|PubMed:23827681, ECO:0000269|PubMed:27732584}.;

Recessive Scores

pRec
0.0997

Intolerance Scores

LoFtool
0.433
RVIS EVS
-1.09
RVIS percentile EVS
7.11

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.993

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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