gene

OPTN

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about OPTN: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

2514Connections

5Hypotheses

5Analyses

50Outgoing

50Incoming

0Experiments

5Debates

Summary

OPTN is a gene implicated in neurodegeneration research. Key relationships include: interacts with, associated with, activates. Associated with AD, ALI, ALS. Connected to 1179 entities in the SciDEX knowledge graph.

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🧬 Gene Info

Gene Symbol	OPTN
Full Name	Optineurin
Chromosome	10p13
Protein Type	Adaptor Protein
Function	is a 66 kDa coiled-coil domain-containing protein encoded by the OPTN gene on chromosome 10p13.
Primary Expression	Motor cortex, Spinal cord, Retina, Brain
Subcellular Localization	</strong></td><td>Cytoplasm, Golgi, mitochondria, nucleus</td></tr>
Molecular Weight	66 kDa
Amino Acids	577 aa
Pathways	Akt, Amyloid, Apoptosis, Autophagy, Immune Response
UniProt ID	Q96CV9
NCBI Gene ID	10133
Ensembl ID	ENSG00000123240
OMIM	602432
GeneCards	OPTN
Human Protein Atlas	OPTN
Associated Diseases	AD, Aging, ALI, als
Known Drugs/Compounds	DEFERIPRONE, dimethyl fumarate, loganin, rapamycin, RAPAMYCIN
Interactions	ABCD3, ABP, ACAT1, ACHE, ACSL4, ACTB
SciDEX Hypotheses	OPTN/TBK1 mutations create selective vulnerability
KG Connections	2513 knowledge graph edges
Databases	GeneCards HPA STRING

🔮 Predicted Structure: OPTN — AlphaFold Q96CV9 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (5)

Knowledge base pages for this entity

Canonical Page

Pathway Diagram

graph TD
    OPTN["OPTN"] -->|"associated"| ALS["ALS"]
    OPTN["OPTN"] -.->|"inhibits"| RIPK1["RIPK1"]
    OPTN["OPTN"] -->|"interacts"| Amyotrophic_Lateral_Sclerosis["Amyotrophic Lateral Sclerosis"]
    OPTN["OPTN"] -->|"interacts"| Dementia["Dementia"]
    OPTN["OPTN"] -->|"interacts"| Als["Als"]
    OPTN["OPTN"] -->|"interacts"| Cardiovascular["Cardiovascular"]
    ACTB["ACTB"] -->|"interacts"| OPTN["OPTN"]
    CAT["CAT"] -->|"interacts"| OPTN["OPTN"]
    MYO7A["MYO7A"] -->|"activates"| OPTN["OPTN"]
    MAP1LC3B["MAP1LC3B"] -->|"activates"| OPTN["OPTN"]
    style OPTN fill:#4a1a6b,stroke:#4fc3f7,stroke-width:2px,color:#e0e0e0

Outgoing (1391)

Target	Relation	Type	Str
OPTN	encodes	protein	0.00
Als	associated_with	disease	1.00
AMYOTROPHIC LATERAL SCLEROSIS	associated_with	gene	1.00
Amyotrophic Lateral Sclerosis	associated_with	disease	1.00
Neurodegeneration	activates	disease	1.00
Als	activates	disease	1.00
Autophagy	associated_with	pathway	1.00
Inflammation	activates	disease	1.00
Mitophagy	activates	pathway	1.00
Als	interacts_with	disease	1.00
Autophagy	activates	pathway	1.00
Autophagy	inhibits	pathway	1.00
Nf-Κb	regulates	pathway	1.00
PINK1/Parkin Mitophagy	associated_with	process	0.95
Drug-Induced Liver Injury	protects_against	disease	0.95
Ubiquitin-Dependent Mitophagy	mediates	process	0.95
TRAK1/KIF5B	interacts_with	protein	0.95
Dementia	associated_with	disease	0.95
Lipophagy	involved_in	process	0.95
Glaucoma	associated_with	disease	0.95
TRAK1	interacts_with	protein	0.95
Axonal Mitochondrial Transport	mediates	process	0.95
Mitophagy	mediates	process	0.95
ALS	associated_with	disease	0.95
Axonal Mitochondria Delivery	associated_with	process	0.95
NLRP3 degradation	promotes	process	0.95
Normal Tension Glaucoma	associated_with	disease	0.95
inflammatory signalling	regulates	pathway	0.95
glaucoma	associated_with	disease	0.95
UBIQUITIN	associated_with	entity	0.95
vesicle trafficking	modulates	process	0.95
Anterograde Axonal Mitochondrial Transport	regulates	process	0.95
normal tension glaucoma	associated_with	disease	0.95
mitophagy	associated_with	process	0.95
Als	regulates	disease	0.95
Tumor	activates	disease	0.95
diabetic cardiomyopathy	therapeutic_target	disease	0.93
bone metabolism	regulates	process	0.92
endoplasmic reticulum stress	inhibits	process	0.92
polyubiquitin	binds_to	protein	0.92
mitochondrial homeostasis	maintains	process	0.92
als	causes	disease	0.90
neurodegeneration	associated_with	disease	0.90
Neurodegeneration	protects_against	phenotype	0.90
Multisystem Proteinopathy	causes	disease	0.90
Necroptosis	inhibits	process	0.90
als	increases_risk	disease	0.90
Mitophagy	associated_with	process	0.90
Microtubules	interacts_with	compound	0.90
STAT2	inhibits	protein	0.90

Incoming (1123)

Source	Relation	Type	Str
OPTN	encodes	gene	0.00
INFLAMMATION	activates	gene	1.00
AMYOTROPHIC LATERAL SCLEROSIS	associated_with	gene	1.00
AUTOPHAGY	activates	gene	1.00
NEURODEGENERATION	activates	gene	1.00
PINK1	activates	gene	1.00
AUTOPHAGY	associated_with	gene	1.00
SQSTM1	associated_with	gene	1.00
MITOPHAGY	activates	gene	1.00
UBIQUITIN	activates	gene	1.00
USP25	interacts_with	protein	0.95
MAP3K1	interacts_with	protein	0.90
TBK1	associated_with	protein	0.90
NAP1	inhibits	protein	0.90
KENNY	associated_with	gene	0.90
SINTBAD	inhibits	protein	0.90
AUTOPHAGY	inhibits	gene	0.90
TNF	activates	gene	0.90
P62	interacts_with	gene	0.90
P62	activates	gene	0.90
NDP52	activates	gene	0.90
MITOCHONDRIA	activates	gene	0.90
FLNA	interacts_with	gene	0.87
AGEs	inhibits	protein	0.85
TBK1	phosphorylates	protein	0.85
CKLF	upregulates	protein	0.85
GSK3B	phosphorylates	gene	0.83
RAB10	interacts_with	protein	0.82
VCP	stabilizes	protein	0.82
FOXO1	regulates	gene	0.81
AGING	associated_with	phenotype	0.80
MAP1LC3B	regulates	gene	0.80
NLR	regulates	gene	0.80
CALCOCO2	regulates	gene	0.80
FIP200	regulates	gene	0.80
VCP	associated_with	protein	0.80
CKLF	contributes_to	protein	0.80
DNA	interacts_with	gene	0.80
MITOCHONDRIAL DYSFUNCTION	activates	gene	0.80
OXIDATIVE STRESS	activates	gene	0.80
ALS	activates	disease	0.80
ALZHEIMER	activates	disease	0.80
AUTOPHAGY	interacts_with	gene	0.80
MITOPHAGY	interacts_with	gene	0.80
NF-ΚB	regulates	gene	0.80
TBK1	regulates	protein	0.80
NEURODEGENERATION	causes	gene	0.80
PTEN	activates	gene	0.80
NBR1	associated_with	gene	0.80
UBIQUITIN	interacts_with	gene	0.80

Targeting Hypotheses (5)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
TBK1-OPTN-p62 selective autophagy failure across ALS, FTD, a	0.776	multi	Cross-disease neurodegeneration mechanis
TBK1-OPTN-NDP52 Phospho-Cascade Coordinates Multi-Organelle	0.772	neurodegeneration	How do different organelle-specific auto
OPTN/TBK1 mutations create selective vulnerability by blocki	0.670	neurodegeneration	What are the neuron-specific effects of
ALS-Linked OPTN/TBK1 Mutations Impair Phosphorylation Cascad	0.648	neurodegeneration	How do pathological stress granules in n
TREM2 Agonism to Redirect Microglia from Synaptic Pruning to	0.521	neurodegeneration	How do ALS-associated OPTN mutations mec

Mentioning Analyses (5)

Scientific analyses that reference this entity

Experiments (0)

Experimental studies targeting or related to this entity

Experiment	Type	Disease	Score	Feasibility	Model	Status	Est. Cost
No experiments found

Related Papers (12)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year
Enhancing TREM2 expression activates microglia and modestly mitigates tau pathol [PMID:40122810]	["Chen Kai", "Li Fuyao", "Zhang Shuwen",	Journal of neuroinflammation	2025
Enhancing TREM2 expression activates microglia and modestly mitigates tau pathol [PMID:40122810]	["Chen Kai", "Li Fuyao", "Zhang Shuwen",	Journal of neuroinflammation	2025
Neurodegeneration and Inflammation-An Interesting Interplay in Parkinson's Disea [PMID:33182554]	Marogianni C, Sokratous M, Dardiotis E,	International journal of molec	2020
Neurodegeneration and Inflammation-An Interesting Interplay in Parkinson's Disea [PMID:33182554]	Marogianni C, Sokratous M, Dardiotis E,	International journal of molec	2020
PINK1/PARKIN signalling in neurodegeneration and neuroinflammation. [PMID:33168089]	Quinn PMJ, Moreira PI, Ambrósio AF, Alve	Acta neuropathologica communic	2020
DNA Damage, Neurodegeneration, and Synaptic Plasticity. [PMID:27313899]	Merlo, Cuchillo-Ibañez, Parlato, Ra	Neural plasticity	2018
Multiple Sclerosis Pathology. [PMID:29358320]	Lassmann H	Cold Spring Harbor perspective	2018
DNA Damage, Neurodegeneration, and Synaptic Plasticity. [PMID:27313899]	Unknown	Neural Plast	2016
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. [PMID:25803835]	Unknown	Nature neuroscience	2015
The roles of PINK1, parkin, and mitochondrial fidelity in Parkinson's disease. [PMID:25611507]	["Pickrell Alicia M", "Youle Richard J"]	Neuron	2015
Neurodegeneration. [PMID:12938729]	Burgunder	IUBMB life	2004
Neurodegeneration. [PMID:12938729]	Unknown	IUBMB Life	2003

Debates (5)

Multi-agent debates referencing this entity

Related Research

Hypotheses and analyses mentioning OPTN in their description or question text

No additional research found

OPTN

Understanding Entity Pages

Summary

Wiki Pages (5)

OPTN Protein (Optineurin)

OPTN (Optineurin) Mitophagy Dysfunction — ALS/FTD/PD Causal Chain

OPTN Protein (Optineurin)

OPTN — Optineurin

OPTN Protein (Optineurin)

Pathway Diagram

Outgoing (1391)

Incoming (1123)

Targeting Hypotheses (5)

Mentioning Analyses (5)

How do ALS-associated OPTN mutations mechanistically disrupt Rab8a binding and c

What are the neuron-specific effects of ALS-causing mutations on autophagy machi

How do different organelle-specific autophagy pathways coordinate during neurode

How does TRIM21-mediated K63 ubiquitination of G3BP1 mechanistically inhibit liq

How do pathological stress granules in neurodegeneration escape TRIM21/autophagy

Experiments (0)

Related Papers (12)

Debates (5)

The study shows TRIM21 and autophagy receptors can eliminate both physiological

The study shows that G3BP1 ubiquitination inhibits LLPS in vitro, but the molecu

The abstract mentions multiple organelles synchronously present structural deran

While ALS-causing mutations impair autophagy factors, the neuron-specific effect

The authors evaluate several ALS-associated mutations in OPTN's leucine-zipper d

Related Research