gene

ALS2

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about ALS2: 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.

132Connections

0Hypotheses

0Analyses

50Outgoing

38Incoming

0Experiments

0Debates

Summary

ALS2 is a gene implicated in neurodegeneration research. Key relationships include: causes, associated with, expressed in. Associated with Als, Amyotrophic Lateral Sclerosis, Dementia. Connected to 98 entities in the SciDEX knowledge graph.

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🧬 Gene Info

Gene Symbol	ALS2
Full Name	Alsin
Chromosome	2q33.1
Protein Family	RCC1 (Regulator of Chromosome Condensation 1) superfamily, GEFs for small GTPases
Function	is a large 184 kDa protein encoded by the ALS2 gene that functions as a guanine nucleotide exchange factor (GEF) for small GTPases, primarily Rab5 and Rac1[@hadano2001][@yang2001].
Primary Expression	Highest in motor neurons, brain cortex, hippocampus
Subcellular Localization	</td><td class="value">Cytoplasm, Early Endosomes, Late Endosomes</td></tr>
Molecular Weight	184 kDa
Amino Acids	1 aa
UniProt ID	Q9UPN3
NCBI Gene ID	5824
Ensembl ID	ENSG00000103307
OMIM	607352
GeneCards	ALS2
Human Protein Atlas	ALS2
Associated Diseases	Als, Amyotrophic Lateral Sclerosis, Autosomal Recessive Ataxia, Dementia, frontotemporal dementia
Interactions	C9ORF72, C9ORF72 REPEAT EXPANSION, RAB5
KG Connections	132 knowledge graph edges
Databases	GeneCards HPA STRING

🔮 Predicted Structure: ALS2 — AlphaFold Q9UPN3 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (4)

Knowledge base pages for this entity

Canonical Page

Pathway Diagram

graph TD
    ALS2["ALS2"] -->|"expressed in"| Amyotrophic_Lateral_Sclerosis["Amyotrophic Lateral Sclerosis"]
    ALS2["ALS2"] -->|"expressed in"| Neurodegeneration["Neurodegeneration"]
    ALS2["ALS2"] -->|"expressed in"| Dementia["Dementia"]
    ALS2["ALS2"] -->|"associated"| Als["Als"]
    ALS2["ALS2"] -->|"expressed in"| Ms["Ms"]
    ALS2["ALS2"] -->|"activates"| Amyotrophic_Lateral_Sclerosis_1["Amyotrophic Lateral Sclerosis"]
    OPTN["OPTN"] -->|"associated"| ALS2["ALS2"]
    SQSTM1["SQSTM1"] -->|"associated"| ALS2["ALS2"]
    GAIN["GAIN"] -->|"expressed in"| ALS2["ALS2"]
    FIG4["FIG4"] -->|"associated"| ALS2["ALS2"]
    style ALS2 fill:#4a1a6b,stroke:#4fc3f7,stroke-width:2px,color:#e0e0e0

Outgoing (94)

Target	Relation	Type	Str
Autosomal Recessive Ataxia	causes	disease	0.80
Als	associated_with	disease	0.75
Vesicle Trafficking	involved_in	process	0.75
ALS	associated_with	gene	0.70
FIG4	associated_with	gene	0.70
Amyotrophic Lateral Sclerosis	activates	disease	0.65
Dementia	activates	disease	0.65
Frontotemporal Dementia	activates	disease	0.65
Ftd	associated_with	disease	0.65
Amyotrophic Lateral Sclerosis	expressed_in	disease	0.65
Frontotemporal Dementia	causes	disease	0.65
Glaucoma	associated_with	disease	0.65
Amyotrophic Lateral Sclerosis	associated_with	disease	0.65
Dementia	causes	disease	0.65
Amyotrophic Lateral Sclerosis	causes	disease	0.65
Neurodegeneration	causes	disease	0.65
Ftd	causes	disease	0.65
Ms	causes	disease	0.65
Als	transports	disease	0.65
Neurodegeneration	activates	disease	0.65
Ms	expressed_in	disease	0.65
Neurodegeneration	expressed_in	disease	0.65
Dementia	expressed_in	disease	0.65
Als	causes	disease	0.65
AND	causes	gene	0.60
Neuron	causes	cell_type	0.60
C9ORF72 REPEAT EXPANSION	causes	gene	0.60
ALS	transports	gene	0.60
Raf	transports	protein	0.60
MATR3	associated_with	gene	0.60
CHMP2B	associated_with	gene	0.60
OPTN	associated_with	gene	0.60
SQSTM1	associated_with	gene	0.60
frontotemporal dementia	associated_with	disease	0.60
C9ORF72	expressed_in	gene	0.60
RAB5	expressed_in	gene	0.60
GAIN	expressed_in	gene	0.60
C9ORF72	activates	gene	0.60
RAB5	activates	gene	0.60
GAIN	causes	gene	0.60
RAB5	causes	gene	0.60
SQSTM1	causes	gene	0.60
OPTN	causes	gene	0.60
CHMP2B	causes	gene	0.60
FUS	associated_with	gene	0.60
ALS8	associated_with	gene	0.60
ALSIN	associated_with	gene	0.60
ALS4	associated_with	gene	0.60
ALS9	associated_with	gene	0.60
TARDBP	associated_with	gene	0.60

Incoming (38)

Source	Relation	Type	Str
DEMENTIA	expressed_in	gene	0.60
NEURON	expressed_in	gene	0.60
NEURON	causes	gene	0.60
ALS	causes	gene	0.60
LYSOSOMAL BIOGENESIS	causes	gene	0.60
DEMENTIA	causes	gene	0.60
NEURODEGENERATION	causes	gene	0.60
ENDOSOMES	causes	gene	0.60
VESICLE TRAFFICKING	causes	gene	0.60
AMYOTROPHIC LATERAL SCLEROSIS	causes	gene	0.60
AND	causes	gene	0.60
ALS	transports	gene	0.60
ALS	associated_with	gene	0.60
OPTN	associated_with	gene	0.60
SQSTM1	associated_with	gene	0.60
GAIN	expressed_in	gene	0.60
FIG4	associated_with	gene	0.60
CHMP2B	associated_with	gene	0.60
CHMP2B	causes	gene	0.60
C9ORF72	causes	gene	0.60
FIG4	causes	gene	0.60
RAB5	expressed_in	gene	0.60
C9ORF72	expressed_in	gene	0.60
SQSTM1	causes	gene	0.60
GAIN	causes	gene	0.60
OPTN	causes	gene	0.60
RAB5	causes	gene	0.60
OPTN	transports	gene	0.60
CHMP2B	transports	gene	0.60
NEURODEGENERATION	expressed_in	gene	0.60
MOTOR NEURONS	expressed_in	gene	0.60
VESICLE TRAFFICKING	associated_with	gene	0.60
LYSOSOMAL BIOGENESIS	expressed_in	gene	0.60
C9ORF72 REPEAT EXPANSION	expressed_in	gene	0.60
ENDOSOMES	expressed_in	gene	0.60
AMYOTROPHIC LATERAL SCLEROSIS	expressed_in	gene	0.60
MOTOR NEURONS	causes	gene	0.60
C9ORF72 REPEAT EXPANSION	causes	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 ALS2 in their description or question text

No additional research found