gene

OTOF

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about OTOF: 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.

7Connections

0Hypotheses

0Analyses

5Outgoing

2Incoming

0Experiments

0Debates

Summary

OTOF encodes otoferlin, a synaptic vesicle protein essential for hearing, involved in calcium-dependent neurotransmitter release at inner hair cell ribbon synapses.

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🧬 Gene Info

Gene Symbol	OTOF
Full Name	Otoferlin
Chromosome	2p23.3
Function	encodes a large transmembrane protein belonging to the ferlin family that is essential for synaptic vesicle exocytosis at the inner hair cell ribbon synapse of the cochlea.
Primary Expression	Inner ear, brain, pancreas, testis
Molecular Weight	600 kDa
Amino Acids	380 aa
Exons	48
Pathways	Exocytosis
UniProt ID	Q9NZM4
NCBI Gene ID	9381
Ensembl ID	ENSG00000137860
OMIM	603681
GeneCards	OTOF
Human Protein Atlas	OTOF
Associated Diseases	Aging, Als, Ms
KG Connections	7 knowledge graph edges
Databases	GeneCards HPA STRING

🔮 Predicted Structure: OTOF — AlphaFold Q9NZM4 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (1)

Knowledge base pages for this entity

Canonical Page

OTOF (Otoferlin)

gene · 1606 words

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Pathway Diagram

graph TD
    OTOF["OTOF"]
    Als{"Als"}
    OTOF -->|"regulates"| Als
    Ms{"Ms"}
    OTOF -->|"associated with"| Ms
    OTOF -->|"associated with"| Als
    Aging{"Aging"}
    OTOF -->|"associated with"| Aging
    Exocytosis(["Exocytosis"])
    OTOF -->|"activates"| Exocytosis
    neurodegeneration["neurodegeneration"]
    OTOF -->|"implicated in"| neurodegeneration
    SNAP29["SNAP29"]
    SNAP29 -->|"associated with"| OTOF
    GCAT["GCAT"]
    GCAT -->|"associated with"| OTOF
    style OTOF fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#e0e0e0

Outgoing (5)

Target	Relation	Type	Str
Als	regulates	disease	0.65
Ms	associated_with	disease	0.65
Als	associated_with	disease	0.65
Aging	associated_with	disease	0.65
Exocytosis	activates	pathway	0.60

Incoming (2)

Source	Relation	Type	Str
SNAP29	associated_with	gene	0.60
GCAT	associated_with	gene	0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention 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 (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

Debates (0)

Multi-agent debates referencing this entity

No debates reference this entity

Related Research

Hypotheses and analyses mentioning OTOF in their description or question text

No additional research found