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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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OTUD7A
OTU deubiquitinase 7A
Chromosome 15 Β· 15q13.3
NCBI Gene: 161725Ensembl: ENSG00000169918.11HGNC: HGNC:20718UniProt: Q8TE49
28PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedProtease
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cysteine-type deubiquitinase activityprotein K11-linked deubiquitinationprotein bindingcytoplasmgenetic developmental and epileptic encephalopathydevelopmental and epileptic encephalopathyneurodevelopmental disorder with hypotonia and seizuresIntellectual disability
✦AI Summary

OTUD7A is a deubiquitinase that cleaves Lys-11-linked polyubiquitin chains and regulates protein stability through the ubiquitin-proteasome system 1. In the brain, OTUD7A localizes to dendritic spines and regulates Ankyrin proteins, which are critical for axon initial segment structure and neuronal function 2. Loss of OTUD7A expression impairs dendritic spine development, synapse formation, and glutamatergic synaptic transmission 3, 4. OTUD7A haploinsufficiency is the primary driver of 15q13.3 microdeletion syndrome, a neurodevelopmental disorder characterized by developmental delay, seizures, intellectual disability, and hypotonia 5, 3. Epilepsy-associated OTUD7A mutations (L233F) disrupt interaction with Ankyrin-G, causing protein instability and reduced dendritic spine nanodomains 2. Beyond neurodevelopment, OTUD7A stabilizes the EWS-FLI1 oncofusion protein in Ewing sarcoma 6 and regulates KDM5B in KRAS-mutant lung cancer, affecting ferroptosis sensitivity 7. In cardiac tissue, OTUD7A promotes pathological hypertrophy by stabilizing TAK1, suggesting context-dependent roles across tissues 8. Restoration of OTUD7A expression reverses neuronal dysfunction in disease models, indicating therapeutic potential.

Sources cited
1
OTUD7A interacts with Ankyrin-G and Ankyrin-B; OTUD7A-Ankyrin pathway is critical for neuronal development and impaired in 15q13.3 microdeletion
PMID: 36604605
2
OTUD7A acts as deubiquitinase that stabilizes TAK1 and promotes pathological cardiac hypertrophy
PMID: 41268652
3
OTUD7A loss-of-function mutations in schizophrenia-associated 15q13.3 deletion impair dendritic complexity, synaptic protein density, and neuronal network activity
PMID: 35931052
4
OTUD7A is a deubiquitinating enzyme linked to neuromuscular disorders and controls protein turnover
PMID: 38716888
5
OTUD7A is a deubiquitinase that stabilizes EWS-FLI1 oncofusion protein in Ewing sarcoma
PMID: 34060252
6
OTUD7A localizes to dendritic spines and reduced levels contribute to dendritic spine and dendrite outgrowth deficits in 15q13.3 microdeletion
PMID: 29395074
7
Otud7a knockout mice show seizures, developmental delay, reduced dendritic spine density, and decreased glutamatergic synaptic transmission
PMID: 29395075
8
OTUD7A regulates lysine demethylase 5B (KDM5B) in KRAS-mutant lung cancer affecting ferroptosis and cisplatin sensitivity
PMID: 41422226
Disease Associationsβ“˜21
developmental and epileptic encephalopathyOpen Targets
0.46Moderate
genetic developmental and epileptic encephalopathyOpen Targets
0.46Moderate
neurodevelopmental disorder with hypotonia and seizuresOpen Targets
0.42Moderate
Intellectual disabilityOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.36Weak
benign neoplasm of eyeOpen Targets
0.27Weak
Neurodevelopmental disorderOpen Targets
0.27Weak
tooth diseaseOpen Targets
0.24Weak
BlindnessOpen Targets
0.18Weak
diabetes mellitusOpen Targets
0.13Weak
15q11q13 microduplication syndromeOpen Targets
0.12Weak
type 2 diabetes mellitusOpen Targets
0.08Suggestive
Ewing sarcomaOpen Targets
0.08Suggestive
concussionOpen Targets
0.06Suggestive
intellectual developmental disorder, X-linked 110Open Targets
0.04Suggestive
autosomal dominant epilepsy with auditory featuresOpen Targets
0.04Suggestive
intellectual developmental disorder 60 with seizuresOpen Targets
0.03Suggestive
eosinophilic esophagitisOpen Targets
0.03Suggestive
OligodontiaOpen Targets
0.03Suggestive
tooth agenesisOpen Targets
0.03Suggestive
Neurodevelopmental disorder with hypotonia and seizuresUniProt
Pathogenic Variants3
NM_001382637.1(OTUD7A):c.893+1delLikely pathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2023
NM_001382637.1(OTUD7A):c.697C>T (p.Leu233Phe)Pathogenic
Specific learning disability|Language disorder;Epileptic encephalopathy;Severe global developmental delay|Neurodevelopmental disorder with hypotonia and seizures
β˜†β˜†β˜†β˜†2024β†’ Residue 233
NM_001382637.1(OTUD7A):c.1146del (p.Glu382fs)Pathogenic
Neurodevelopmental disorder with hypotonia and seizures
β˜†β˜†β˜†β˜†2024β†’ Residue 382
View on ClinVar β†—
Related Genes
UBCProtein interaction98%CHRFAM7AProtein interaction96%ZUP1Protein interaction82%MTMR10Protein interaction81%ZNF629Protein interaction74%ZNF501Protein interaction74%
Tissue Expression6 tissues
Brain
100%
Ovary
14%
Heart
10%
Lung
8%
Liver
6%
Bone Marrow
4%
Gene Interaction Network
Click a node to explore
OTUD7AUBCCHRFAM7AZUP1MTMR10ZNF629ZNF501
PROTEIN STRUCTURE
Preparing viewer…
PDB2L2D Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.22Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.11 [0.06–0.22]
RankingsWhere OTUD7A stands among ~20K protein-coding genes
  • #12,405of 20,598
    Most Researched28
  • #4,132of 5,498
    Most Pathogenic Variants3
  • #546of 17,882
    Most Constrained (LOEUF)0.22 Β· top 5%
Genes detectedOTUD7A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome.
PMID: 36604605
Mol Psychiatry Β· 2023
1.00
2
OTUD7a Accelerates Pathological Cardiac Hypertrophy via TAK1 Activation.
PMID: 41268652
Circ Res Β· 2026
0.90
3
PMID: 21290787
0.80
4
Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons.
PMID: 35931052
Am J Hum Genet Β· 2022
0.70
5
Deubiquitinases in muscle physiology and disorders.
PMID: 38716888
Biochem Soc Trans Β· 2024
0.60