gene

DYSF

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about DYSF: 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.

112Connections

30Hypotheses

0Analyses

47Outgoing

50Incoming

13Experiments

0Debates

Summary

Comprehensive review of DYSF gene, encoding dysferlin, a critical membrane repair protein with roles in muscular dystrophy and potential implications for neurodegenerative diseases

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🧬 Gene Info

Gene Symbol	DYSF
Full Name	Dysferlin
Chromosome	2p13.2
Function	is a human gene located on chromosome 2p13.
Primary Expression	Skeletal muscle, Cardiac muscle, Brain, Spinal cord
Molecular Weight	237 kDa
Amino Acids	080 aa
Pathways	Exocytosis, Immune Response
UniProt ID	O75923
NCBI Gene ID	8291
Ensembl ID	ENSG00000131721
OMIM	603009
GeneCards	DYSF
Human Protein Atlas	DYSF
Associated Diseases	Ms
KG Connections	112 knowledge graph edges
Databases	GeneCards HPA STRING

🔮 Predicted Structure: DYSF — AlphaFold O75923 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (1)

Knowledge base pages for this entity

Canonical Page

DYSF — Dysferlin

gene · 2154 words

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Pathway Diagram

graph TD
    DYSF["DYSF"]
    Ms{"Ms"}
    DYSF -->|"associated with"| Ms
    ANXA2["ANXA2"]
    DYSF -->|"associated with"| ANXA2
    Exocytosis(["Exocytosis"])
    DYSF -->|"regulates"| Exocytosis
    Immune_Response(["Immune Response"])
    DYSF -->|"regulates"| Immune_Response
    neurodegeneration["neurodegeneration"]
    DYSF -->|"implicated in"| neurodegeneration
    LMNA["LMNA"]
    LMNA -->|"associated with"| DYSF
    ANXA1["ANXA1"]
    ANXA1 -->|"associated with"| DYSF
    style DYSF fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#e0e0e0

Outgoing (47)

Target	Relation	Type	Str
plasma membrane repair	involved_in	process	0.85
Ms	associated_with	disease	0.65
Immune Response	regulates	pathway	0.60
Exocytosis	regulates	pathway	0.60
oxidative stress response	participates_in	pathway	0.60
ANXA2	associated_with	gene	0.60
OPTN	co_discussed	gene	0.40
OPTINEURIN	co_discussed	protein	0.40
PARL	co_discussed	protein	0.40
PEX3	co_discussed	gene	0.40
PINK1	co_discussed	gene	0.40
PTEN	co_discussed	gene	0.40
PRKN	co_discussed	gene	0.40
PARKIN	co_discussed	gene	0.40
RB1CC1	co_discussed	gene	0.40
FIP200	co_discussed	gene	0.40
RB1	co_discussed	protein	0.40
FAM134B	co_discussed	gene	0.40
RHOT1	co_discussed	gene	0.40
MIRO1	co_discussed	protein	0.40
RIPK3	co_discussed	gene	0.40
RTN3	co_discussed	gene	0.40
SESN2	co_discussed	gene	0.40
SNCA	co_discussed	gene	0.40
SNCAIP	co_discussed	gene	0.40
SQSTM1	co_discussed	gene	0.40
P62	co_discussed	protein	0.40
STING1	co_discussed	protein	0.40
TAX1BP1	co_discussed	gene	0.40
MICROGLIA	co_discussed	cell_type	0.40
PHAGOCYTOSIS	co_discussed	process	0.40
COMPLEMENT	co_discussed	pathway	0.40
ANXIETY	co_discussed	gene	0.40
ALS	co_discussed	disease	0.40
NEURODEGENERATIVE DISEASES	co_discussed	disease	0.40
NLR	co_discussed	gene	0.40
PARKINSON	co_discussed	gene	0.40
CARDIOVASCULAR	co_discussed	disease	0.40
RAS	co_discussed	protein	0.40
REACTIVE OXYGEN SPECIES	co_discussed	process	0.40
INTERFERON	co_discussed	protein	0.40
PRESENILIN	co_discussed	protein	0.40
INFECTION	co_discussed	disease	0.40
MUL1	co_discussed	gene	0.40
NBR1	co_discussed	gene	0.40
NLRP3	co_discussed	protein	0.40
FMR1	co_discussed	gene	0.40

Incoming (65)

Source	Relation	Type	Str
ANXA1	associated_with	gene	0.60
LMNA	associated_with	gene	0.60
NEUROINFLAMMATION	co_discussed	process	0.40
NF-ΚB	co_discussed	pathway	0.40
NEURON	co_discussed	gene	0.40
AUTOPHAGY	co_discussed	process	0.40
ALZHEIMER DISEASE	co_discussed	gene	0.40
AMPK	co_discussed	protein	0.40
ATG	co_discussed	gene	0.40
APOPTOSIS	co_discussed	process	0.40
BIM	co_discussed	protein	0.40
ACTIN	co_discussed	protein	0.40
CATALASE	co_discussed	protein	0.40
CELL CYCLE	co_discussed	pathway	0.40
COPD	co_discussed	disease	0.40
DNA	co_discussed	protein	0.40
EIF2Α	co_discussed	protein	0.40
FTD	co_discussed	disease	0.40
FRONTOTEMPORAL DEMENTIA	co_discussed	disease	0.40
LC3B	co_discussed	protein	0.40
IRE1	co_discussed	protein	0.40
SYNA	co_discussed	gene	0.40
ABCD3	co_discussed	gene	0.40
MYOT	co_discussed	gene	0.40
AMBRA1	co_discussed	protein	0.40
UBIQUITIN	co_discussed	protein	0.40
RELA	co_discussed	gene	0.40
ATM	co_discussed	protein	0.40
BCL2	co_discussed	gene	0.40
BCL2L11	co_discussed	gene	0.40
BCL2L13	co_discussed	gene	0.40
BECN1	co_discussed	gene	0.40
BNIP3	co_discussed	gene	0.40
BNIP3L	co_discussed	protein	0.40
CALCOCO2	co_discussed	gene	0.40
NDP52	co_discussed	gene	0.40
CANX	co_discussed	gene	0.40
CAT	co_discussed	gene	0.40
CTSD	co_discussed	gene	0.40
HEPSIN	co_discussed	protein	0.40
DDIT3	co_discussed	gene	0.40
CHOP	co_discussed	gene	0.40
DISC1	co_discussed	gene	0.40
DNM1L	co_discussed	gene	0.40
DRP1	co_discussed	protein	0.40
EIF2AK3	co_discussed	gene	0.40
PERK	co_discussed	protein	0.40
EIF2S1	co_discussed	gene	0.40
EMD	co_discussed	gene	0.40
EPAS1	co_discussed	gene	0.40

Targeting Hypotheses (30)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
Closed-loop optogenetic targeting PV interneurons to restore	0.944	Alzheimer's disease	Circuit-level neural dynamics in neurode
Plasma NfL Elevation Secondary to BBB-Associated Transport D	0.915	-	What blood-brain barrier permeability ch
TREM2 R47H Variant-Driven Metabolic Dysfunction as the Prima	0.858	neurodegeneration	How do different microglial subtypes (DA
Glymphatic-Mediated Tau Clearance Dysfunction	0.821	neuroscience	Circuit-level neural dynamics in neurode
TREM2-Mediated Microglial Dysfunction Disrupts Perivascular	0.812	neuroscience	TREM2 in Alzheimer's Disease: Mechanisms

Targeting the Mechanistic Link Between AQP4 Dysfunction and	0.803	neurodegeneration	View
Microglial-Mediated Tau Clearance Dysfunction via TREM2 Sign	0.792	neuroscience	Circuit-level neural dynamics in neurode
Excitatory Neuron Synaptic Dysfunction and Mitochondrial Str	0.790	neurodegeneration	Cell type vulnerability debate in Alzhei
Vicious Cycle Hypothesis: Cholinergic Dysfunction Exacerbate	0.785	-	Do β-amyloid plaques and neurofibrillary
Tau dysfunction destabilizes labile pool	0.750	neurodegeneration	View
BACE1/NRG1 Axis Dysfunction Drives Excitatory/Inhibitory Imb	0.743	neurodegeneration	What are the physiological functions of
SIRT3-Mediated Mitochondrial Deacetylation Failure with PINK	0.738	Alzheimer's Disease	Cell type vulnerability in Alzheimers Di
Microglial-Mediated Tau Clearance Dysfunction via TREM2 Rece	0.737	neuroscience	Circuit-level neural dynamics in neurode
SGMS1-Driven Sphingomyelin Accumulation Impairs BACE1 Lysoso	0.734	neurodegeneration	What molecular mechanisms link elevated
Metabolic-Support Secretome Dysfunction	0.730	neurodegeneration	Which specific factors in conditioned me
Calcium-Dependent S100B Release from Astrocyte End-Feet as a	0.700	-	What blood-brain barrier permeability ch
TREM2 Agonism to Rescue APOE4-Induced Microglial Dysfunction	0.690	neurodegeneration	APOE4 targeting in neurodegeneration
CRISPR-Mediated Mitochondrial Genome Editing for Complex I D	0.681	neurodegeneration	CRISPR-based therapeutic approaches for
Plasma Claudin-5 Proteolytic Fragments Distinguish Paracellu	0.680	-	What blood-brain barrier permeability ch
Astrocytic-Mediated Tau Clearance Dysfunction via TREM2 Sign	0.672	neuroscience	Circuit-level neural dynamics in neurode
AQP4-Dependent Astrocyte Swelling Exacerbates Excitotoxic Ne	0.670	neurodegeneration	What are the specific molecular mechanis
Parvalbumin Interneuron Vulnerability Links Lactate Transpor	0.656	neurodegeneration	What is the molecular mechanism by which
The Mitochondrial-Lysosomal Metabolic Coupling Dysfunction	0.652	neurodegeneration	Metabolic reprogramming in neurodegenera
SUMO1-Mediated Synaptotagmin-1 SUMOylation at Lys124 Impairs	0.652	neurodegeneration	What are the specific PTM changes in syn
ELF2-Mediated OPC Epigenetic Drift Drives Region-Dependent M	0.650	Alzheimer disease	Allen Mouse Brain Aging Atlas: cross-age
APOE-TREM2 Ligand Availability Dysfunction in Neurodegenerat	0.649	neurodegeneration	Gene expression changes in aging mouse b
MCU Calcium Overload via MFN2/GRP75/VDAC1 MAM Dysfunction	0.644	neurodegeneration	What upstream mechanisms cause TDP-43 to
TREM2-Mediated Mitochondrial Dysfunction in Neurodegeneratio	0.642	neurodegeneration	Gene expression changes in aging mouse b
Butyrate-Producing Commensal Depletion Creates Vicious Cycle	0.630	neurodegeneration	How does gut microbiome dysbiosis contri
Locus coeruleus degeneration gates whether cholinergic dysfu	0.620	neurodegeneration	What determines the temporal sequence of

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Experiments (13)

Experimental studies targeting or related to this entity

Experiment	Type	Disease	Score	Model	Status	Est. Cost
NAD depletion effects on monocyte/macrophage differentiation	exploratory	Inflammatory bowel disease	0.900	Primary mouse and human monocy	proposed	N/A
FK866 treatment in DSS-induced colitis mouse model	validation	Inflammatory bowel disease (co	0.900	DSS-induced colitis mice	proposed	N/A
Tau depletion effects on neuronal development in primary cultures	exploratory		0.900	primary rodent neuronal cultur	proposed	N/A
Differential GWAS of schizophrenia vs PTSD	exploratory	schizophrenia, post-traumatic	0.900	human patients - European ance	proposed	N/A
Tau depletion effects on neuronal development in primary cultures	exploratory		0.900	primary rodent neuronal cultur	proposed	N/A
Creation and validation of 3xAD-ChAT-Cre mouse model	validation	Alzheimer's disease	0.900	3xAD-ChAT-Cre transgenic mice	proposed	N/A
iPSC-derived astrocyte-neuron co-culture mitochondrial transfer in PD	exploratory	Parkinson's disease	0.900	iPSC-derived dopaminergic neur	proposed	N/A
Autophagy receptor identification for stress granule elimination	exploratory	neurodegenerative diseases	0.900	cultured cells under arsenite	proposed	N/A
FK866 in azoxymethane/DSS colitis-associated cancer model	validation	Colitis-associated cancer	0.850	AOM/DSS-treated mice	proposed	N/A
FK866 mechanism validation in Rag1-/- mice	validation	Inflammatory bowel disease	0.850	Rag1-/- mice with DSS-induced	proposed	N/A
GTEx brain tissue expression analysis of MAPT/CRHR1 locus	exploratory	schizophrenia, post-traumatic	0.850	human brain tissue samples fro	proposed	N/A
Microtubule domain analysis in adult axons	exploratory		0.800	adult rodent axons	proposed	N/A
Tau depletion effects on microtubule domains in adult axons	exploratory		0.800	adult rodent neurons	proposed	N/A

Related Papers (20)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
Human and mouse single-nucleus transcriptomics reveal TREM2-dependent and TREM2- [PMID:31932797]	Zhou Y, Song WM, Andhey PS, Swain A, Lev	Nat Med	2020	1
Targeting Microglial Phagocytosis for Alzheimer's Disease Management: Natural, P [PMID:40641018]	Raghuvanshi S, Mazumder A, Das S	CNS & neurological disorders d	2026	0
ACSL4-mediated astrocyte ferroptosis augments neuroinflammation and exacerbates [PMID:41776085]	Wen H, Zi Y, Liu Z, Bai Y, Lin J et al.	Cell Death Differ	2026	0
Multimodal MR Imaging Reveals the Mechanisms of Post-Cardiac-Arrest Brain edema: [PMID:41933462]	Tan Y, Ye H, Ge Q, Wang P, Liu Z et al.	J Magn Reson Imaging	2026	0
Mapping the Brain's Glymphatic System. [PMID:41751308]	Voumvourakis K, Thomaidis NS, Tsiodras S	Biomedicines	2026	0
Aquaporin 4 knockdown alleviates traumatic brain edema and reduces neuronal axon [PMID:41967652]	Fang J, Pan X, Chen J	Neurobiol Dis	2026	0
Enhancing TREM2 expression activates microglia and modestly mitigates tau pathol [PMID:40122810]	["Chen Kai", "Li Fuyao", "Zhang Shuwen",	Journal of neuroinflammation	2025	0
The APOE-Microglia Axis in Alzheimer's Disease: Functional Divergence and Therap [PMID:40722268]	Unknown	Brain sciences	2025	0
Melatonin Mitigates Sleep Restriction-Induced Cognitive and Glymphatic Dysfuncti [PMID:40293704]	Sun H, Cao Q, He X, Du X, Jiang X, Wu T,	Molecular neurobiology	2025	0
Emerging Molecular Targets in Neurodegenerative Disorders: New Avenues for Thera [PMID:40922457]	["Eroglu E", "Harmanci N"]	Basic & clinical pharmacology	2025	0
Enhancing TREM2 expression activates microglia and modestly mitigates tau pathol [PMID:40122810]	["Chen Kai", "Li Fuyao", "Zhang Shuwen",	Journal of neuroinflammation	2025	0
Clearance mechanisms of the glymphatic/lymphatic system in the brain: new therap [PMID:41376656]	He Z, Sun J	Cognitive neurodynamics	2025	0
Glymphatic and meningeal lymphatic dysfunction in Alzheimer's disease: Mechanism [PMID:41152198]	Ding J, Zhao C, Hao X, Jiao H	Alzheimer's & dementia : the j	2025	0
When sleep fails, brain clearance suffers: the role of glymphatic impairment in [PMID:41315137]	["De la Herr\u00e1n-Arita Alberto K"]	Acta neurologica Belgica	2025	0
Soluble CSF1R promotes microglial activation and amyloid clearance in alzheimer' [PMID:41152873]	Zhang L, Chen K, Zeng R	J Neuroinflammation	2025	0
P-tau217 correlates with neurodegeneration in Alzheimer's disease, and targeting [PMID:38513667]	Zhang D, Zhang W, Ming C, Gao X, Yuan H,	Neuron	2024	0
The necroptosis cell death pathway drives neurodegeneration in Alzheimer's disea [PMID:38852117]	Balusu S, De Strooper B	Acta neuropathologica	2024	0
The cornel Iridoid glycoside attenuated brain edema of the cerebral ischemia/rep [PMID:38950636]	Wang Z, Xue F, Zhang J	Fitoterapia	2024	0
Untangling the Role of TREM2 in Conjugation with Microglia in Neuronal Dysfuncti [PMID:36683512]	Basha SC, Ramaiah MJ, Kosagisharaf JR	J Alzheimers Dis	2023	0
Insulin Resistance and Diabetes Mellitus in Alzheimer's Disease. [PMID:34069890]	Burillo J, Marqués P, Jiménez B, Gonzále	Cells	2021	0

Debates (0)

Multi-agent debates referencing this entity

No debates reference this entity

Related Research

Hypotheses and analyses mentioning DYSF in their description or question text

Targeting the Mechanistic Link Between AQP4 Dysfunction and Ferroptosis Prevents

Score: 0.803 · neurodegeneration · 2026-04-17

## Mechanistic Overview Targeting the Mechanistic Link Between AQP4 Dysfunction and Ferroptosis Prevents Both Cytotoxic

Microglial-Mediated Tau Clearance Dysfunction via TREM2 Signaling

Score: 0.792 · neuroscience · 2026-04-07

## Mechanistic Overview Microglial-Mediated Tau Clearance Dysfunction via TREM2 Signaling starts from the claim that mod

Excitatory Neuron Synaptic Dysfunction and Mitochondrial Stress via MAPT (tau)

Score: 0.790 · neurodegeneration · 2026-04-22

## Mechanistic Overview Excitatory Neuron Synaptic Dysfunction and Mitochondrial Stress via MAPT (tau) starts from the c

Vicious Cycle Hypothesis: Cholinergic Dysfunction Exacerbates Amyloid Pathology

Score: 0.785 · unknown disease · 2026-04-12

## Mechanistic Overview Vicious Cycle Hypothesis: Cholinergic Dysfunction Exacerbates Amyloid Pathology starts from the

Tau dysfunction destabilizes labile pool

Score: 0.750 · neurodegeneration · 2026-04-25

Loss of tau function (as in disease states) selectively destabilizes the labile microtubule population, disrupting axona

BACE1/NRG1 Axis Dysfunction Drives Excitatory/Inhibitory Imbalance via PV Intern

Score: 0.743 · neurodegeneration · 2026-04-15

## Mechanistic Overview BACE1/NRG1 Axis Dysfunction Drives Excitatory/Inhibitory Imbalance via PV Interneuron Hypofuncti

SIRT3-Mediated Mitochondrial Deacetylation Failure with PINK1/Parkin Mitophagy D

Score: 0.738 · Alzheimer's Disease · 2026-04-02

## Mechanistic Overview SIRT3-Mediated Mitochondrial Deacetylation Failure with PINK1/Parkin Mitophagy Dysfunction start

Microglial-Mediated Tau Clearance Dysfunction via TREM2 Receptor Impairment

Score: 0.737 · neuroscience · 2026-04-12

**Molecular Mechanism and Rationale** The molecular foundation of this hypothesis centers on the disruption of the TREM

SGMS1-Driven Sphingomyelin Accumulation Impairs BACE1 Lysosomal Degradation via

Score: 0.734 · neurodegeneration · 2026-04-15

## Mechanistic Overview SGMS1-Driven Sphingomyelin Accumulation Impairs BACE1 Lysosomal Degradation via Autophagosome-Ly

Metabolic-Support Secretome Dysfunction

Score: 0.730 · neurodegeneration · 2026-04-25

Healthy astrocytes provide a balanced fuel/redox/pH composition (including lactate, glucose, pyruvate, and NAD+/NADH-rel

Calcium-Dependent S100B Release from Astrocyte End-Feet as an Early Signal of As

Score: 0.700 · unknown disease · 2026-04-26

S100B is released from astrocytes upon inflammatory activation or metabolic stress, causing pericyte dysfunction and end

TREM2 Agonism to Rescue APOE4-Induced Microglial Dysfunction

Score: 0.690 · neurodegeneration · 2026-04-22

## **Molecular Mechanism and Rationale** The triggering receptor expressed on myeloid cells 2 (TREM2) represents a crit

CRISPR-Mediated Mitochondrial Genome Editing for Complex I Dysfunction

Score: 0.681 · neurodegeneration · 2026-04-04

## Mechanistic Overview CRISPR-Mediated Mitochondrial Genome Editing for Complex I Dysfunction starts from the claim tha

Plasma Claudin-5 Proteolytic Fragments Distinguish Paracellular BBB Breakdown fr

Score: 0.680 · unknown disease · 2026-04-26

Claudin-5 is the most abundant tight junction protein in brain endothelial cells and is specifically degraded during ear

Astrocytic-Mediated Tau Clearance Dysfunction via TREM2 Signaling

Score: 0.672 · neuroscience · 2026-04-12

## **Molecular Mechanism and Rationale** The astrocytic-mediated tau clearance dysfunction hypothesis centers on the pa