ALS2 Chromosome 2
Alsin Rho guanine nucleotide exchange factor ALS2
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What This Gene Does
The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
"Dbl family Rho GEFs|VPS9 domain containing"
Locus Type
gene with protein product
Location
2q33.1
Ensembl
ENSG00000003393
Associated Conditions (14)
Infantile-onset ascending hereditary spastic paralysis
Amyotrophic lateral sclerosis type 2
juvenile
ALS2-related disorder
Inborn genetic diseases
ALS2-related motor neuron disease
Hereditary spastic paraplegia
Juvenile primary lateral sclerosis
Amyotrophic lateral sclerosis
Peripheral axonal neuropathy
Tip-toe gait
Abnormal central motor function
6 conditions
Juvenile amyotrophic lateral sclerosis
Key Variants
RS1190350825
Conflicting classifications of pathogenicity
Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
Health Risk
RS1214757167
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 2, juvenile, ALS2-related disorder
Health Risk
RS1242751535
Conflicting classifications of pathogenicity
ALS2-related disorder, Amyotrophic lateral sclerosis type 2, juvenile
Health Risk
RS1260262428
Conflicting classifications of pathogenicity
Infantile-onset ascending hereditary spastic paralysis, Hereditary spastic paraplegia, Infantile-onset ascending hereditary spastic paralysis
Health Risk
RS1265678329
Conflicting classifications of pathogenicity
ALS2-related disorder, Amyotrophic lateral sclerosis type 2, juvenile
Health Risk
RS1355321952
Conflicting classifications of pathogenicity
Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
Health Risk
RS147078120
Conflicting classifications of pathogenicity
Infantile-onset ascending hereditary spastic paralysis, Inborn genetic diseases, Infantile-onset ascending hereditary spastic paralysis
Health Risk
RS147284131
Conflicting classifications of pathogenicity
Infantile-onset ascending hereditary spastic paralysis, Hereditary spastic paraplegia, Infantile-onset ascending hereditary spastic paralysis
Health Risk
RS1553513641
Conflicting classifications of pathogenicity
Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
Health Risk
RS1689578912
Conflicting classifications of pathogenicity
Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
Health Risk
RS1693726956
Conflicting classifications of pathogenicity
Infantile-onset ascending hereditary spastic paralysis, ALS2-related disorder, Amyotrophic lateral sclerosis type 2
Health Risk
RS181782027
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 2, juvenile, ALS2-related disorder
Health Risk
All Variants (161)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064793583 | Health Risk | Pathogenic/Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1064797281 | Health Risk | Pathogenic/Likely pathogenic | Juvenile primary lateral sclerosis, Amyotrophic lateral sclerosis type 2, juvenile |
| RS1234882220 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 2, juvenile, Amyotrophic lateral sclerosis type 2 |
| RS1574786170 | Health Risk | Pathogenic/Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1574787779 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 2, juvenile, Infantile-onset ascending hereditary spastic paralysis |
| RS2106074229 | Health Risk | Pathogenic/Likely pathogenic | Abnormal central motor function, Infantile-onset ascending hereditary spastic paralysis, Abnormal central motor function |
| RS532217889 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS730882256 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 2, juvenile, Infantile-onset ascending hereditary spastic paralysis |
| RS746255868 | Health Risk | Pathogenic/Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS757972700 | Health Risk | Pathogenic/Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis type 2, juvenile |
| RS767350733 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Amyotrophic lateral sclerosis type 2, juvenile |