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.

2473Connections

1Hypotheses

1Analyses

50Outgoing

50Incoming

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
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, ALI, ALS, AMI, AUTOPHAGY, AXONAL DEGENERATION
Known Drugs/Compounds	DEFERIPRONE, RAPAMYCIN, loganin, dimethyl fumarate, rapamycin
Interactions	RIPK1, ULK1, SMCR8, CALCOCO2, LC3, BECN1
KG Connections	2473 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 (21)

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 (1412)

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

Incoming (1061)

Source	Relation	Type	Str
INFLAMMATION	activates	gene	1.00
AMYOTROPHIC LATERAL SCLEROSIS	associated_with	gene	1.00
AUTOPHAGY	activates	gene	1.00
SQSTM1	associated_with	gene	1.00
UBIQUITIN	activates	gene	1.00
PINK1	activates	gene	1.00
MITOPHAGY	activates	gene	1.00
AUTOPHAGY	associated_with	gene	1.00
NEURODEGENERATION	activates	gene	1.00
USP25	interacts_with	protein	0.95
TBK1	binds	protein	0.90
NAP1	inhibits	protein	0.90
SINTBAD	inhibits	protein	0.90
MAP3K1	interacts_with	protein	0.90
KENNY	associated_with	gene	0.90
P62	interacts_with	gene	0.90
TNF	activates	gene	0.90
P62	activates	gene	0.90
NDP52	activates	gene	0.90
MITOCHONDRIA	activates	gene	0.90
AUTOPHAGY	inhibits	gene	0.90
FLNA	interacts_with	gene	0.87
TBK1	phosphorylates	protein	0.85
AGEs	inhibits	protein	0.85
CKLF	upregulates	protein	0.85
GSK3B	phosphorylates	gene	0.83
VCP	stabilizes	protein	0.82
RAB10	interacts_with	protein	0.82
FOXO1	regulates	gene	0.81
MAP1LC3B	regulates	gene	0.80
VCP	interacts_with_to_stabilize_BECN1	protein	0.80
CALCOCO2	regulates	gene	0.80
FIP200	regulates	gene	0.80
CKLF	contributes_to	protein	0.80
AGING	associated_with	phenotype	0.80
NLR	regulates	gene	0.80
TBK1	regulates	protein	0.80
PTEN	activates	gene	0.80
NBR1	associated_with	gene	0.80
UBIQUITIN	interacts_with	gene	0.80
NDP52	interacts_with	gene	0.80
PINK1	interacts_with	gene	0.80
DNA	interacts_with	gene	0.80
MITOCHONDRIA	associated_with	gene	0.80
MITOPHAGY	interacts_with	gene	0.80
OXIDATIVE STRESS	activates	gene	0.80
NF-ΚB	regulates	gene	0.80
AUTOPHAGY	interacts_with	gene	0.80
ALS	causes	gene	0.80
NEURODEGENERATION	causes	gene	0.80

Targeting Hypotheses (1)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
TREM2 Agonism to Redirect Microglia from Synaptic Pruning to	0.521	neurodegeneration	How do ALS-associated OPTN mutations mec

Mentioning Analyses (1)

Scientific analyses that reference this entity

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

neurodegeneration | 2026-04-14 | 1 hypotheses Top: 0.521

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

OPTN

Understanding Entity Pages

Summary

Wiki Pages (21)

OPTN — Optineurin

cbs-psp-daily-action-plan

neuroinflammation

Mitochondrial Dysfunction in Parkinson's Disease

Autophagy Mechanisms

Mitophagy Pathway in Neurodegeneration

Spinal Cord Dorsal Horn Neurons

Gene-Mechanism-Therapy Causal Chains

proteasome-ubiquitin-system-dysfunction-parkinsons

Neuroinflammation-Mitochondria Crosstalk Pathway

TYNDASE — Tyndall

mitophagy-defect

Autophagy-Lysosomal Impairment Across Neurodegenerative Diseases

Motor Neuron Disease (MND)

Autophagy-Lysosomal Impairment Comparison — AD/PD/ALS/FTD/HD

Lysosomal Dysfunction in Neurodegeneration

Mitophagy Pathway in Neurodegeneration

Huntingtin Protein (HTT)

TDP-43 Proteinopathy in Amyotrophic Lateral Sclerosis

CBS/PSP Genetic Architecture