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
17Hypotheses
23Analyses
47Outgoing
50Incoming

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 SymbolDYSF
Full NameDysferlin
Chromosome2p13.2
Functionis a human gene located on chromosome 2p13.
Primary ExpressionSkeletal muscle, Cardiac muscle, Brain, Spinal cord
Molecular Weight~237 kDa
Amino Acids080 aa
PathwaysExocytosis, Immune Response
UniProt IDO75923
NCBI Gene ID8291
Ensembl IDENSG00000131721
OMIM603009
GeneCardsDYSF
Human Protein AtlasDYSF
Protein Length2,080 amino acids
Associated DiseasesMs
KG Connections112 knowledge graph edges
DatabasesGeneCardsHPASTRING
🔮 Predicted Structure: DYSF — AlphaFold O75923 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (14)

Knowledge base pages for this entity

Canonical Page

DYSF — Dysferlin

gene · 2154 words

CLCN1 (Chloride Voltage-Gated Channel 1)

gene · 1841 words

Alsin Protein

protein · 1791 words

SYNA — Synapsin I

gene · 1293 words

Parabrachial Nucleus (PBN) Neurons

cell · 1279 words

CHCHD10 — Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10

gene · 1252 words

Pathway Diagram

graph TD
    DYSF["<b>DYSF</b>"]
    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)

TargetRelationTypeStr
plasma membrane repairinvolved_inprocess0.85
Msassociated_withdisease0.65
ANXA2associated_withgene0.60
Exocytosisregulatespathway0.60
Immune Responseregulatespathway0.60

Incoming (65)

SourceRelationTypeStr
LMNAassociated_withgene0.60
ANXA1associated_withgene0.60
SYNAco_discussedgene0.40
ABCD3co_discussedgene0.40
MYOTco_discussedgene0.40

Targeting Hypotheses (17)

Hypotheses where this entity is a therapeutic target

HypothesisScoreDiseaseAnalysis
Closed-loop optogenetic targeting PV interneurons to restore 0.633 Alzheimer's disease Circuit-level neural dynamics in neurode
Vicious Cycle Hypothesis: Cholinergic Dysfunction Exacerbate 0.610 - Do β-amyloid plaques and neurofibrillary
Parvalbumin Interneuron Vulnerability Links Lactate Transpor 0.569 neurodegeneration What is the molecular mechanism by which
Glymphatic-Mediated Tau Clearance Dysfunction 0.546 neuroscience Circuit-level neural dynamics in neurode
SGMS1-Driven Sphingomyelin Accumulation Impairs BACE1 Lysoso 0.542 neurodegeneration What molecular mechanisms link elevated
C9orf72-SMCR8-WDR41 Complex Dysfunction in C9-ALS Rescued by 0.537 neurodegeneration How does PIKFYVE inhibition activate unc
Microglial-Mediated Tau Clearance Dysfunction via TREM2 Sign 0.533 neuroscience Circuit-level neural dynamics in neurode
TREM2-Mediated Microglial Dysfunction Disrupts Perivascular 0.527 neuroscience Circuit-level neural dynamics in neurode
BACE1/NRG1 Axis Dysfunction Drives Excitatory/Inhibitory Imb 0.527 neurodegeneration What are the physiological functions of
SIRT3-Mediated Mitochondrial Deacetylation Failure with PINK 0.509 Alzheimer's Disease Cell type vulnerability in Alzheimers Di
CRISPR-Mediated Mitochondrial Genome Editing for Complex I D 0.491 neurodegeneration CRISPR-based therapeutic approaches for
Microglial-Mediated Tau Clearance Dysfunction via TREM2 Rece 0.489 neuroscience Circuit-level neural dynamics in neurode
C1q Inhibition Prevents Synaptic Mitochondrial Dysfunction v 0.455 neurodegeneration Why does PRKN-mediated mitophagy, typica
TREM2-Mediated Microglial Dysfunction Disrupts Oligodendrocy 0.452 neuroscience Circuit-level neural dynamics in neurode
Astrocytic-Mediated Tau Clearance Dysfunction via TREM2 Sign 0.434 neuroscience Circuit-level neural dynamics in neurode
The Mitochondrial-Lysosomal Metabolic Coupling Dysfunction 0.398 neurodegeneration Metabolic reprogramming in neurodegenera
Brain Insulin Resistance with Glucose Transporter Dysfunctio 0.398 neurodegeneration Metabolic reprogramming in neurodegenera

Mentioning Analyses (23)

Scientific analyses that reference this entity

Are interneuron oscillation deficits compensatory responses or primary pathologi

neurodegeneration | 2026-04-15 | 1 hypotheses Top: 0.497

Why does autophagy inhibition improve neuronal survival when autophagy is typica

neurodegeneration | 2026-04-15 | 1 hypotheses Top: 0.557

What are the specific circulating factors in exercise-conditioned plasma that me

neurodegeneration | 2026-04-14 | 2 hypotheses Top: 0.589

What signals trigger microglia to specifically recognize and phagocytose LC axon

neuroinflammation | 2026-04-14 | 0 hypotheses

What is the molecular mechanism by which oligodendroglial MCT1 disruption causes

neurodegeneration | 2026-04-13 | 2 hypotheses Top: 0.614

Related Papers (20)

Scientific publications cited in analyses involving this entity

Title & PMIDAuthorsJournalYearCitations
Targeted nanovesicular delivery of dexmedetomidine modulates microglial lysosoma [PMID:41778730] Zhang Y, Jiang H, Zhang F, Liao J Neural regeneration research 2026 0
The myocardial ischemic cascade network and multi-target synergistic interventio [PMID:41544859] Qi L, Yi J, Shen Y, Jiang H, Yao X et al Biochem Pharmacol 2026 0
Homoplantaginin ameliorates osteoarthritis by activating Sirt3/PINK1/Parkin sign [PMID:41720004] Zhang H, Xiao J, Yi Y, Chen B, Lv W et a Phytomedicine 2026 0
Kakkalide promotes spinal cord injury repair by regulating microglial M2 polariz [PMID:41720005] You T, Dai B, Ding X, He Z, Peng J et al Phytomedicine 2026 0
AARS2 R199C mutation induces lactylation-driven premature ovarian insufficiency [PMID:41832996] Zhang HH, Zhang ZL, Xu W Reproduction 2026 0
Interaction of mtROS-Immune-Inflammatory Vicious Cycle Activation in Sepsis-Indu [PMID:41905969] Wang Y, Yuan Q Clin Exp Pharmacol Physiol 2026 0
FGFR1 suppresses ovarian cancer progression by modulating SIRT3-dependent lactyl [PMID:41946672] Jiang F, Huang H, Dong Z, Zhang L, Zhang Cell Death Discov 2026 0
Adipocyte small extracellular vesicle-derived microRNA-30a-3p exacerbates hepati [PMID:41965824] Zhang T, Hu L, Chen D, Chen Y, Zhou F et Nat Commun 2026 0
α7-nAChR activation mitigates pyridaben-induced hepatotoxicity in grass carp (Ct [PMID:41966317] Wu C, Jiang J, Qiu H, Xie J, Li S Fish Shellfish Immunol 2026 0
Metformin attenuates HSV-1-induced neuropathic pain by restoring Sirt3-mediated [PMID:41896899] Fang Y, Deng M, Huang K, Song H, Chu Y, Cell communication and signali 2026 0
Hydrogen-Enriched Hyaluronic Acid Dressing Ameliorates Diabetic Foot Ulcer via P [PMID:41906653] Xu Z, Cui X, Chu H, Wan H, Xie Y, Wang Y Journal of diabetes 2026 0
Inhibition of mitochondrial ROS turns LC3-associated phagocytosis to autophagy u [PMID:41896101] Cheng YL, Su MS, Liao CC, Chang TW, Hsie Journal of microbiology, immun 2026 0
Hyperoside stabilizes ACAT1 to promote fatty acid oxidation and attenuate kidney [PMID:41903436] Shan C, Szili-Torok T, Yue G, Zhang L, M Phytomedicine : international 2026 0
Melatonin Ameliorates decaBDE-Induced Autism-Relevant Behaviors Through Promotin [PMID:41897550] ["Gao L", "Shen J", "Gao J", "Li T", "Ya Antioxidants (Basel, Switzerla 2026 0
Plasma pTau 217/β-amyloid 1-42 ratio for enhanced accuracy and reduced uncertain [PMID:41562409] Benina N, Buitrago L, De Simone FI, Radw Brain 2026 0
TREM2 deficiency delays postnatal microglial maturation and synaptic pruning, le [PMID:41930604] Yang HC, Deng YS, Zhang J, Zhang T, Song J Alzheimers Dis 2026 0
Sirtuins as mediators and targets of arsenic toxicity: unraveling signaling path [PMID:40844627] El-Mahrouk SR, El-Kadi AOS Archives of toxicology 2025 0
Targeted activation of ErbB4 receptor ameliorates neuronal deficits and neuroinf [PMID:40089796] Liu C, Zhao Y, Zhang W, Dao JJ, Li Q, Hu Journal of neuroinflammation 2025 0
Phenylpropanoids of Eleutherococcus senticosus (Rupr. & maxim.) maxim. Alleviate [PMID:40081261] Yang R, Meng X, Zhao W, Xu SQ, Wang SY, Bioorganic chemistry 2025 0
Small molecule DDQ involvement of ERK-mediated signaling pathway with enhanced m [PMID:40222458] Pradeepkiran JA, Kshirsagar S, Alvir RV, Biochimica et biophysica acta. 2025 0