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 |
|---|---|---|---|
| RS1574786641 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1689931402 | Health Risk | Pathogenic | Juvenile amyotrophic lateral sclerosis, Infantile-onset ascending hereditary spastic paralysis, Juvenile amyotrophic lateral sclerosis |
| RS1690523978 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1690532210 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1692492382 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1693173657 | Health Risk | Pathogenic | — |
| RS1693780539 | Health Risk | Pathogenic | Juvenile primary lateral sclerosis, Juvenile primary lateral sclerosis |
| RS2105969251 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2105972075 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 2, juvenile, Amyotrophic lateral sclerosis type 2 |
| RS2105998730 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis, Infantile-onset ascending hereditary spastic paralysis |
| RS2105999102 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2105999112 | Health Risk | Pathogenic | — |
| RS2106005994 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2106011709 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2106012637 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 2, juvenile, Amyotrophic lateral sclerosis type 2 |
| RS2106023727 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis type 2, juvenile |
| RS2106074302 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2106088185 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2106089689 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2106089798 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2106102271 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2469734144 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2469774653 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2469780591 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2469784078 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2469913984 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2469917312 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2469943073 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS369577952 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis type 2, juvenile |
| RS371140239 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS374047961 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 2, juvenile, Infantile-onset ascending hereditary spastic paralysis |
| RS386134173 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 2, juvenile, Amyotrophic lateral sclerosis type 2 |
| RS386134174 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 2, juvenile, Juvenile primary lateral sclerosis |
| RS386134175 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS386134176 | Health Risk | Pathogenic | Juvenile primary lateral sclerosis, Juvenile primary lateral sclerosis |
| RS386134178 | Health Risk | Pathogenic | Juvenile primary lateral sclerosis, Juvenile primary lateral sclerosis |
| RS386134181 | Health Risk | Pathogenic | Juvenile primary lateral sclerosis, Infantile-onset ascending hereditary spastic paralysis, Juvenile primary lateral sclerosis |
| RS386134182 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS386134183 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS386134184 | Health Risk | Pathogenic | Juvenile primary lateral sclerosis, Juvenile primary lateral sclerosis |
| RS386134187 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS386134188 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS387906316 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS587777132 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis type 2, juvenile |
| RS730882255 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 2, juvenile, Amyotrophic lateral sclerosis type 2 |
| RS745657866 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS748568886 | Health Risk | Pathogenic | — |
| RS759408917 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis, Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis |
| RS767032589 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS878855058 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |