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 |
|---|---|---|---|
| RS773628251 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, ALS2-related disorder, Infantile-onset ascending hereditary spastic paralysis |
| RS775483404 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, ALS2-related disorder, Amyotrophic lateral sclerosis type 2 |
| RS778003334 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS779286010 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS797044934 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Infantile-onset ascending hereditary spastic paralysis, Inborn genetic diseases |
| RS1014953504 | Health Risk | Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1057523547 | Health Risk | Likely pathogenic | — |
| RS1057524355 | Health Risk | Likely pathogenic | — |
| RS1060503672 | Health Risk | Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1213175712 | Health Risk | Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS121908138 | Health Risk | Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1263013448 | Health Risk | Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1340248169 | Health Risk | Likely pathogenic | Abnormal central motor function, Abnormal central motor function |
| RS1574655402 | Health Risk | Likely pathogenic | 6 conditions, 6 conditions |
| RS1574748038 | Health Risk | Likely pathogenic | Juvenile primary lateral sclerosis, Amyotrophic lateral sclerosis type 2, juvenile |
| RS1689580631 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 2, juvenile, Amyotrophic lateral sclerosis type 2 |
| RS1689584119 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 2, juvenile, Amyotrophic lateral sclerosis type 2 |
| RS1690335308 | Health Risk | Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1691183538 | Health Risk | Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1693462968 | Health Risk | Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2106001462 | Health Risk | Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2106005949 | Health Risk | Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2106009582 | Health Risk | Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2106071765 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 2, juvenile, Amyotrophic lateral sclerosis type 2 |
| RS2106080813 | Health Risk | Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2106102324 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis |
| RS2469683799 | Health Risk | Likely pathogenic | Tip-toe gait, Tip-toe gait |
| RS2469724450 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 2, juvenile, Amyotrophic lateral sclerosis type 2 |
| RS2469758488 | Health Risk | Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2469758597 | Health Risk | Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2469768159 | Health Risk | Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2469852909 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 2, juvenile, Amyotrophic lateral sclerosis type 2 |
| RS2469899610 | Health Risk | Likely pathogenic | Juvenile primary lateral sclerosis, Amyotrophic lateral sclerosis type 2, juvenile |
| RS2469900041 | Health Risk | Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS538311710 | Health Risk | Likely pathogenic | ALS2-related motor neuron disease, ALS2-related motor neuron disease |
| RS763455928 | Health Risk | Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis type 2, juvenile |
| RS767762611 | Health Risk | Likely pathogenic | ALS2-related disorder, ALS2-related disorder |
| RS770096661 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 2, juvenile, Infantile-onset ascending hereditary spastic paralysis |
| RS863225293 | Health Risk | Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Juvenile primary lateral sclerosis, Amyotrophic lateral sclerosis type 2 |
| RS863225294 | Health Risk | Likely pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1167814155 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS121908137 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS121908139 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1275973309 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1317051984 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1337097412 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1391892163 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1553506317 | Health Risk | Pathogenic | — |
| RS1553511680 | Health Risk | Pathogenic | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1574698048 | Health Risk | Pathogenic | Juvenile primary lateral sclerosis, Juvenile primary lateral sclerosis |