GENE NAME | ALS2 |
CHROMOSOME | 2 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000003393 |
UNIPROT ACCESSION NUMBER | Q96Q42 |
GO MOLECULAR FUNCTION | ['protein homodimerization activity', 'small GTPase binding', 'guanyl-nucleotide exchange factor activity', 'protein binding', 'protein serine/threonine kinase activator activity', 'identical protein binding', 'GTPase activator activity'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa05014; hsa05022; R-HSA-199991; R-HSA-5653656; R-HSA-8876198; R-HSA-9007101 |
4 combinations linked to ALS2 | OLI778; OLI1704; OLI772; OLI955 |
4 variants linked to ALS2 | ALS2:p.Ser654Gly; ALS2:p.Pro1288Leu; ALS2:c.1192T>C, p.Ser398Pro; ALS2:p.Glu697Lys |
1 disease linked to ALS2 | Amyotrophic lateral sclerosis |