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 |
|---|---|---|---|
| RS1190350825 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1214757167 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 2, juvenile, ALS2-related disorder |
| RS1242751535 | Health Risk | Conflicting classifications of pathogenicity | ALS2-related disorder, Amyotrophic lateral sclerosis type 2, juvenile |
| RS1260262428 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Hereditary spastic paraplegia, Infantile-onset ascending hereditary spastic paralysis |
| RS1265678329 | Health Risk | Conflicting classifications of pathogenicity | ALS2-related disorder, Amyotrophic lateral sclerosis type 2, juvenile |
| RS1355321952 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS147078120 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Inborn genetic diseases, Infantile-onset ascending hereditary spastic paralysis |
| RS147284131 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Hereditary spastic paraplegia, Infantile-onset ascending hereditary spastic paralysis |
| RS1553513641 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1689578912 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS1693726956 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, ALS2-related disorder, Amyotrophic lateral sclerosis type 2 |
| RS181782027 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 2, juvenile, ALS2-related disorder |
| RS185911369 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 2, juvenile, ALS2-related disorder |
| RS190369242 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 2, juvenile, Infantile-onset ascending hereditary spastic paralysis |
| RS191980454 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Inborn genetic diseases, Infantile-onset ascending hereditary spastic paralysis |
| RS199751225 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Infantile-onset ascending hereditary spastic paralysis, Inborn genetic diseases |
| RS199947290 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Inborn genetic diseases, Infantile-onset ascending hereditary spastic paralysis |
| RS200202953 | Health Risk | Conflicting classifications of pathogenicity | ALS2-related disorder, Amyotrophic lateral sclerosis type 2, juvenile |
| RS200417604 | Health Risk | Conflicting classifications of pathogenicity | ALS2-related disorder, Amyotrophic lateral sclerosis type 2, juvenile |
| RS200706696 | Health Risk | Conflicting classifications of pathogenicity | ALS2-related disorder, Amyotrophic lateral sclerosis type 2, juvenile |
| RS201089588 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis type 2, juvenile |
| RS201161419 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis type 2, juvenile |
| RS201335536 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Inborn genetic diseases, Infantile-onset ascending hereditary spastic paralysis |
| RS202084736 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Inborn genetic diseases, Infantile-onset ascending hereditary spastic paralysis |
| RS202219507 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 2, juvenile, ALS2-related disorder |
| RS2106003724 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS3219160 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 2, juvenile, ALS2-related disorder |
| RS3219166 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, ALS2-related disorder, Amyotrophic lateral sclerosis type 2 |
| RS34122078 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis type 2, juvenile |
| RS367640165 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Hereditary spastic paraplegia, Infantile-onset ascending hereditary spastic paralysis |
| RS370824570 | Health Risk | Conflicting classifications of pathogenicity | ALS2-related disorder, Amyotrophic lateral sclerosis type 2, juvenile |
| RS373602123 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Hereditary spastic paraplegia, Infantile-onset ascending hereditary spastic paralysis |
| RS374919826 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS374978798 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 2, juvenile, ALS2-related disorder |
| RS375742430 | Health Risk | Conflicting classifications of pathogenicity | ALS2-related disorder, Amyotrophic lateral sclerosis type 2, juvenile |
| RS376270303 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, ALS2-related disorder, Infantile-onset ascending hereditary spastic paralysis |
| RS41308840 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis type 2, juvenile |
| RS528131651 | Health Risk | Conflicting classifications of pathogenicity | ALS2-related disorder, Amyotrophic lateral sclerosis type 2, juvenile |
| RS541714751 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Inborn genetic diseases, Infantile-onset ascending hereditary spastic paralysis |
| RS557709223 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 2, juvenile, ALS2-related disorder |
| RS569869571 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS61745503 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis type 2, juvenile |
| RS755148474 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 2, juvenile, ALS2-related disorder |
| RS757704778 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Inborn genetic diseases, Infantile-onset ascending hereditary spastic paralysis |
| RS763352024 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Inborn genetic diseases, Infantile-onset ascending hereditary spastic paralysis |
| RS763440221 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 2, juvenile, ALS2-related disorder |
| RS764925739 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Hereditary spastic paraplegia, Infantile-onset ascending hereditary spastic paralysis |
| RS765859367 | Health Risk | Conflicting classifications of pathogenicity | ALS2-related disorder, Amyotrophic lateral sclerosis type 2, juvenile |
| RS767012535 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS767553658 | Health Risk | Conflicting classifications of pathogenicity | Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |