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.

138Connections

0Hypotheses

0Analyses

50Outgoing

39Incoming

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
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
Symbol [@tudor2010] ALS2 [@kawai2018] [@patel2020] [@ref] Full Name [@refa] Alsin Chromosome	2q33.1
Associated Diseases	Als, Amyotrophic Lateral Sclerosis, Autosomal Recessive Ataxia, Dementia, Frontotemporal Dementia, Ftd
Interactions	C9ORF72, RAB5, C9ORF72 REPEAT EXPANSION
KG Connections	138 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 (21)

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 (99)

Target	Relation	Type	Str
Autosomal Recessive Ataxia	causes	disease	0.80
Vesicle Trafficking	involved_in	process	0.75
Als	associated_with	disease	0.75
FIG4	associated_with	gene	0.70
ALS	associated_with	gene	0.70
Amyotrophic Lateral Sclerosis	expressed_in	disease	0.65
Neurodegeneration	expressed_in	disease	0.65
Dementia	expressed_in	disease	0.65
Ms	expressed_in	disease	0.65
Amyotrophic Lateral Sclerosis	activates	disease	0.65
Dementia	activates	disease	0.65
Frontotemporal Dementia	activates	disease	0.65
Ftd	associated_with	disease	0.65
Neurodegeneration	activates	disease	0.65
Frontotemporal Dementia	causes	disease	0.65
Dementia	causes	disease	0.65
Amyotrophic Lateral Sclerosis	causes	disease	0.65
Neurodegeneration	causes	disease	0.65
Als	causes	disease	0.65
Glaucoma	associated_with	disease	0.65
Amyotrophic Lateral Sclerosis	associated_with	disease	0.65
Ftd	causes	disease	0.65
Ms	causes	disease	0.65
Als	transports	disease	0.65
C9ORF72	expressed_in	gene	0.60
RAB5	expressed_in	gene	0.60
SQSTM1	associated_with	gene	0.60
GAIN	expressed_in	gene	0.60
CHMP2B	associated_with	gene	0.60
C9ORF72	activates	gene	0.60
OPTN	associated_with	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
ALS7	associated_with	gene	0.60
ALS10	associated_with	gene	0.60
SOD1	associated_with	gene	0.60
FIG4	causes	gene	0.60
C9ORF72	causes	gene	0.60
CHMP2B	transports	gene	0.60
FIG4	transports	gene	0.60

Incoming (39)

Source	Relation	Type	Str
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
DEMENTIA	expressed_in	gene	0.60
ALS	associated_with	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	translocates_to	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

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

ALS2

Understanding Entity Pages

Summary

Wiki Pages (21)

ALS2 (Alsin)

Epigenetic Dysregulation in Neurodegeneration

ALS-FTD Spectrum

Ferroptosis in Neurodegeneration

Aging vs Neurodegeneration: Mechanistic Comparison Matrix

Cellular Senescence in Neurodegeneration

Endolysosomal Trafficking Defects in Neurodegeneration

ALS Progression Trajectories

All Pages

Axonal Spheroids in Neurodegeneration

ALS-FTD-Parkinsonism Comparison Matrix

Rab5 Protein

Primary Lateral Sclerosis (PLS)

Patient Stratification and Precision Medicine Synthesis

Precision Medicine Approaches for Neurodegeneration

Alsin Protein

ALS2 (Alsin) Protein

SPG11 Gene - Spastic Paraplegia 11

Target Family Consolidation Analysis — Cross-Disease Therapeutic Targets