protein

C9ORF72-PROTEIN

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about C9ORF72-PROTEIN: 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.

2Connections

0Hypotheses

0Analyses

2Outgoing

0Incoming

0Experiments

0Debates

No summary available yet.

View on Wiki →

No AI portrait yet

🔬 Protein Info

Gene Symbol	C9ORF72
Full Name	PROTEIN
Chromosome	chromosome 9p21.2.
Protein Type	Protein
Function	is a 481-amino acid protein with an approximate molecular weight of 54 kDa.
Primary Expression	Normal and Neoplastic cells) domain family, functioning as a guanine nucleotide exchange factor (GEF) for Rab GTPases involved in endolysosomal traffi
Molecular Weight	54 kDa
Pathways	Apoptosis, Autophagy, Er Stress, LYSOSOMES, Microbiota
UniProt ID	Search UniProt
GeneCards	C9ORF72
Human Protein Atlas	C9ORF72
Associated Diseases	Aging, Als, ALS/FTD, Alzheimer, Alzheimer's Disease
Known Drugs/Compounds	Antisense oligonucleotides, BIIB078
Interactions	ACTB, Actin, AKT, ALS, ALS2, ALS-CAUSING MUTATIONS
SciDEX Hypotheses	Axonal Transport Defect: C9orf72 hexanucleotide ex
KG Connections	1445 knowledge graph edges
Databases	GeneCards NCBI Gene HPA STRING

🔮 Predicted Structure: C9ORF72-PROTEIN — AlphaFold Q96LT7 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Pathway Diagram

graph TD
    C9ORF72["C9ORF72"]
    MOTOR_NEURONS["MOTOR NEURONS"]
    C9ORF72 -->|"interacts_with"| MOTOR_NEURONS
    Tdp_43["Tdp-43"]
    C9ORF72 -->|"activates"| Tdp_43
    TDP_43["TDP-43"]
    C9ORF72 -->|"associated_with"| TDP_43
    CEREBELLUM["CEREBELLUM"]
    C9ORF72 -->|"activates"| CEREBELLUM
    Sod1["Sod1"]
    C9ORF72 -->|"interacts_with"| Sod1
    TAX1BP1["TAX1BP1"]
    C9ORF72 -->|"interacts_with"| TAX1BP1
    MMP9["MMP9"]
    C9ORF72 -->|"activates"| MMP9
    RNA["RNA"]
    C9ORF72 -->|"activates"| RNA
    SQSTM1["SQSTM1"]
    C9ORF72 -->|"expressed_in"| SQSTM1
    NEURODEGENERATION["NEURODEGENERATION"]
    C9ORF72 -->|"implicated_in"| NEURODEGENERATION
    P53["P53"]
    C9ORF72 -->|"activates"| P53
    FUS["FUS"]
    C9ORF72 -->|"causes"| FUS
    style C9ORF72 fill:#4a1a6b,stroke:#4fc3f7,stroke-width:2px,color:#e0e0e0
    style MOTOR_NEURONS fill:#006494,stroke:#333,stroke-width:1px,color:#e0e0e0
    style Tdp_43 fill:#1b5e20,stroke:#333,stroke-width:1px,color:#e0e0e0
    style TDP_43 fill:#006494,stroke:#333,stroke-width:1px,color:#e0e0e0
    style CEREBELLUM fill:#455a64,stroke:#333,stroke-width:1px,color:#e0e0e0
    style Sod1 fill:#006494,stroke:#333,stroke-width:1px,color:#e0e0e0
    style TAX1BP1 fill:#006494,stroke:#333,stroke-width:1px,color:#e0e0e0
    style MMP9 fill:#006494,stroke:#333,stroke-width:1px,color:#e0e0e0
    style RNA fill:#006494,stroke:#333,stroke-width:1px,color:#e0e0e0
    style SQSTM1 fill:#006494,stroke:#333,stroke-width:1px,color:#e0e0e0
    style NEURODEGENERATION fill:#006494,stroke:#333,stroke-width:1px,color:#e0e0e0
    style P53 fill:#006494,stroke:#333,stroke-width:1px,color:#e0e0e0
    style FUS fill:#006494,stroke:#333,stroke-width:1px,color:#e0e0e0

Outgoing (2)

Target	Relation	Type	Str
repeat-containing transcripts	references	gene	0.40
NLRP3	references	gene	0.40

Incoming (0)

Source	Relation	Type	Str
No incoming edges

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 C9ORF72-PROTEIN in their description or question text

No additional research found