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 Localization</td><td class="value">Cytoplasm, Early Endosomes, Late Endosomes</td></tr>
Molecular Weight184 kDa
Amino Acids1 aa
UniProt IDQ9UPN3
NCBI Gene ID5824
Ensembl IDENSG00000103307
OMIM607352
GeneCardsALS2
Human Protein AtlasALS2
Associated DiseasesAls, Amyotrophic Lateral Sclerosis, Autosomal Recessive Ataxia, Dementia, frontotemporal dementia
InteractionsC9ORF72, C9ORF72 REPEAT EXPANSION, RAB5
KG Connections131 knowledge graph edges
DatabasesGeneCardsHPASTRING

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🌐 Cross-references

UniProtWikipedia

Knowledge Graph (12 edges)

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

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