protein 1,627 words KG: ALS2
Contents

ALS2 (Alsin) Protein

🔬 Protein 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
Subcellular LocalizationCytoplasm, Early Endosomes, Late Endosomes
Molecular Weight184 kDa
Amino Acids1,657
UniProt IDQ9UPN3
NCBI Gene ID5824
Ensembl IDENSG00000103307
OMIM607352
GeneCardsALS2
Human Protein AtlasALS2
Associated DiseasesAls, Amyotrophic Lateral Sclerosis, Autosomal Recessive Ataxia, Dementia, Frontotemporal Dementia, Ftd
InteractionsC9ORF72, RAB5, C9ORF72 REPEAT EXPANSION
KG Connections138 knowledge graph edges
DatabasesGeneCardsHPASTRING

Knowledge Graph

Related Hypotheses (9)

Cryptic Exon Silencing Restoration
Score: 0.46
Cross-Seeding Prevention Strategy
Score: 0.45
Lysosomal Membrane Repair Enhancement
Score: 0.45
Mitochondrial Transfer Pathway Enhancement
Score: 0.44
Glycine-Rich Domain Competitive Inhibition
Score: 0.43

Related Analyses (3)

Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived
Mitochondrial transfer between astrocytes and neurons
neurodegeneration · archived
Circuit-level neural dynamics in neurodegeneration
neuroscience · archived

Related Experiments (22)

s:** - Single-cell RNA-seq to measure editing efficiency acr
falsification · proposed · Score: 0.40
Metabolic Pathway-Targeted Therapy in ALS
clinical · proposed · Score: 0.40
ALS Progression Rate Heterogeneity — mechanism and biomarker
clinical · proposed · Score: 0.40
ALS Regional Onset and Spread: Network-Level Staging Model
clinical · proposed · Score: 0.40
Sporadic ALS Initiation Biology: Deep Phenotyping of At-Risk
clinical · proposed · Score: 0.40

See Also (8)

Packard Center for ALS Research
institution · KG edge: associated_with
Alsin (ALSIN)
gene · KG edge: associated_with
ALS9 - Amyotrophic Lateral Sclerosis 9
gene · KG edge: associated_with
ALS8 - Amyotrophic Lateral Sclerosis 8
gene · KG edge: associated_with
ALS7 - Amyotrophic Lateral Sclerosis 7
gene · KG edge: associated_with

Knowledge Graph (12 edges)

ALS2 associated_with FIG4
ALS2 expressed_in C9ORF72
ALS2 expressed_in RAB5
ALS2 associated_with SQSTM1
ALS2 expressed_in GAIN
ALS2 associated_with CHMP2B
ALS2 activates C9ORF72
ALS2 associated_with OPTN
ALS2 activates RAB5
ALS2 causes GAIN