Gene table of ALS2 : ALS2, alsin Rho guanine nucleotide exchange factor

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ALS2	OMIM link	Number of associated genes	genes
607225	SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING	ClinVar, OMIM	link to OMIM	1	ALS2
606353	PRIMARY LATERAL SCLEROSIS, JUVENILE	ClinVar, OMIM	link to OMIM	1	ALS2
PS105400	AMYOTROPHIC LATERAL SCLEROSIS	ClinVar, OMIM	link to OMIM	27	CHCHD10, FIG4, ERBB4, SQSTM1, ATXN2, UBQLN2, DCTN1, FUS, NEFH, PFN1, VAPB, MATR3, ALS2, TBK1, SPG11, TARDBP, TUBA4A, SIGMAR1, SOD1, CHMP2B, PRPH, ANG, VCP, OPTN, C9orf72, HNRNPA1, SETX

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Amyotrophic lateral sclerosis (ALS)	hsa05014	7.01

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
Rho guanyl-nucleotide exchange factor activity	GO:0005089	5.37
Ras guanyl-nucleotide exchange factor activity	GO:0005088	4.31
kinase regulator activity	GO:0019207	4.5
kinase activator activity	GO:0019209	5.58
guanyl-nucleotide exchange factor activity	GO:0005085	4.02
enzyme binding	GO:0019899	2.27
small GTPase binding	GO:0031267	4.13
GTPase binding	GO:0051020	4.05
binding	GO:0005488	0.18
molecular function regulator	GO:0098772	2.51
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16
protein kinase regulator activity	GO:0019887	4.6
enzyme regulator activity	GO:0030234	2.85
Rab GTPase binding	GO:0017137	4.96
Rab guanyl-nucleotide exchange factor activity	GO:0017112	6.34
Ras GTPase binding	GO:0017016	4.2
	GO:0005087	8.13
protein kinase activator activity	GO:0030295	5.68
protein serine/threonine kinase activator activity	GO:0043539	6.91
Rac guanyl-nucleotide exchange factor activity	GO:0030676	7.17
protein binding	GO:0005515	0.46
protein dimerization activity	GO:0046983	2.72
enzyme activator activity	GO:0008047	3.56