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

No summary available yet. View on Wiki →

🧬 Gene Info
Gene SymbolALS2
Full NameAlsin
Chromosome2q33.1
Protein FamilyRCC1 (Regulator of Chromosome Condensation 1) superfamily, GEFs for small GTPases
Functionis 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 ExpressionHighest in motor neurons, brain cortex, hippocampus
Molecular Weight184 kDa
Amino Acids1 aa
UniProt IDQ9UPN3
NCBI Gene ID5824
Ensembl IDENSG00000103307
OMIM607352
GeneCardsALS2
Human Protein AtlasALS2
Associated DiseasesAls, Amyotrophic Lateral Sclerosis, Dementia, Frontotemporal Dementia, Ftd, Glaucoma
DatabasesGeneCardsHPASTRING
🔮 Predicted Structure: als2 — AlphaFold Q9UPN3 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (20)

Knowledge base pages for this entity

Epigenetic Dysregulation in Neurodegeneration

mechanism · 4376 words

ALS-FTD Spectrum

disease · 3586 words

Ferroptosis in Neurodegeneration

mechanism · 3536 words

Aging vs Neurodegeneration: Mechanistic Comparison Matrix

mechanism · 3330 words

Cellular Senescence in Neurodegeneration

mechanism · 3260 words

Pathway Diagram

graph TD
    ALS2["ALS2"]
    ALS2 -->|"expressed in"| Amyotrophic_Lateral_Sclerosis["Amyotrophic Lateral Sclerosis"]
    ALS2 -->|"expressed in"| Neurodegeneration["Neurodegeneration"]
    ALS2 -->|"expressed in"| Dementia["Dementia"]
    ALS2 -->|"expressed in"| Ms["Ms"]
    ALS2 -->|"activates"| Frontotemporal_Dementia["Frontotemporal Dementia"]
    GAIN["GAIN"] -->|"expressed in"| ALS2
    NEURODEGENERATION["NEURODEGENERATION"] -->|"expressed in"| ALS2
    MOTOR_NEURONS["MOTOR NEURONS"] -->|"expressed in"| ALS2
    LYSOSOMAL_BIOGENESIS["LYSOSOMAL BIOGENESIS"] -->|"expressed in"| ALS2
    C9ORF72_REPEAT_EXPANSION["C9ORF72 REPEAT EXPANSION"] -->|"expressed in"| ALS2
    ENDOSOMES["ENDOSOMES"] -->|"expressed in"| ALS2
    AMYOTROPHIC_LATERAL_SCLEROSIS["AMYOTROPHIC LATERAL SCLEROSIS"] -->|"expressed in"| ALS2
    CHMP2B["CHMP2B"] -->|"causes"| ALS2
    C9ORF72["C9ORF72"] -->|"causes"| ALS2
    FIG4["FIG4"] -->|"causes"| ALS2

Outgoing (99)

TargetRelationTypeStr
Autosomal Recessive Ataxiacausesdisease0.80
Vesicle Traffickinginvolved_inprocess0.75
Alsassociated_withdisease0.75
FIG4associated_withgene0.70
ALSassociated_withgene0.70

Incoming (39)

SourceRelationTypeStr
OPTNassociated_withgene0.60
SQSTM1associated_withgene0.60
GAINexpressed_ingene0.60
FIG4associated_withgene0.60
CHMP2Bassociated_withgene0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

HypothesisScoreDiseaseAnalysis
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 & PMIDAuthorsJournalYearCitations
No papers found