Gene
als2a
- ID
- ZDB-GENE-070402-2
- Name
- alsin Rho guanine nucleotide exchange factor ALS2 a
- Symbol
- als2a Nomenclature History
- Previous Names
-
- als2
- si:dkey-33m14.1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have Rab guanyl-nucleotide exchange factor activity. Predicted to be involved in several processes, including endosomal transport; glutamatergic synaptic transmission; and neuromuscular junction development. Predicted to localize to several cellular components, including centrosome; early endosome; and postsynaptic density. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis and amyotrophic lateral sclerosis type 2. Orthologous to human ALS2 (alsin Rho guanine nucleotide exchange factor ALS2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from Laboissonniere et al., 2018
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| amyotrophic lateral sclerosis type 2 | Alliance | Amyotrophic lateral sclerosis 2, juvenile | 205100 |
| Primary lateral sclerosis, juvenile | 606353 | ||
| Spastic paralysis, infantile onset ascending | 607225 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000219 | Dbl homology (DH) domain |
| Domain | IPR001849 | Pleckstrin homology domain |
| Domain | IPR003123 | VPS9 domain |
| Family | IPR051984 | Alsin GEFs and Motor Neuron Regulators |
| Homologous_superfamily | IPR009091 | Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR035899 | Dbl homology (DH) domain superfamily |
| Homologous_superfamily | IPR037191 | VPS9 domain superfamily |
| Repeat | IPR000408 | Regulator of chromosome condensation, RCC1 |
| Repeat | IPR003409 | MORN repeat |
Domain Details Per Protein
| Protein | Length | Alsin GEFs and Motor Neuron Regulators | Dbl homology (DH) domain | Dbl homology (DH) domain superfamily | MORN repeat | PH-like domain superfamily | Pleckstrin homology domain | Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II | Regulator of chromosome condensation, RCC1 | VPS9 domain | VPS9 domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8N7TEA8
|
1662 |
Interactions and Pathways
No data available
Plasmids
No data available