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

Gene-disease associations table

Disease IDDisease nameSource of annotation with ALS2OMIM linkNumber of associated genesgenes
607225SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDINGClinVar, OMIM link to OMIM 1ALS2
606353PRIMARY LATERAL SCLEROSIS, JUVENILEClinVar, OMIM link to OMIM 1ALS2
PS105400AMYOTROPHIC LATERAL SCLEROSISClinVar, OMIM link to OMIM 27CHCHD10, 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

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Annotation of the gene ALS2

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 pathwayKEGG IDKEGG IC
Amyotrophic lateral sclerosis (ALS)hsa050147.01
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
Rho guanyl-nucleotide exchange factor activityGO:00050895.37
Ras guanyl-nucleotide exchange factor activityGO:00050884.31
kinase regulator activityGO:00192074.5
kinase activator activityGO:00192095.58
guanyl-nucleotide exchange factor activityGO:00050854.02
enzyme bindingGO:00198992.27
small GTPase bindingGO:00312674.13
GTPase bindingGO:00510204.05
bindingGO:00054880.18
molecular function regulatorGO:00987722.51
identical protein bindingGO:00428022.63
protein homodimerization activityGO:00428033.16
protein kinase regulator activityGO:00198874.6
enzyme regulator activityGO:00302342.85
Rab GTPase bindingGO:00171374.96
Rab guanyl-nucleotide exchange factor activityGO:00171126.34
Ras GTPase bindingGO:00170164.2
GO:00050878.13
protein kinase activator activityGO:00302955.68
protein serine/threonine kinase activator activityGO:00435396.91
Rac guanyl-nucleotide exchange factor activityGO:00306767.17
protein bindingGO:00055150.46
protein dimerization activityGO:00469832.72
enzyme activator activityGO:00080473.56