Contents

ALS2 (Alsin)

🧬 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
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

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Knowledge Graph

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 RAB5

FIG4 associated_with ALS2

CHMP2B associated_with ALS2