Gene
als2b
- ID
- ZDB-GENE-080929-1
- Name
- alsin Rho guanine nucleotide exchange factor ALS2 b
- Symbol
- als2b Nomenclature History
- Previous Names
-
- wu:fi21b09
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to have guanyl-nucleotide exchange factor activity. 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 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
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 |
| 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 | 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:F8W4K3
|
1681 | |||||||||
|
UniProtKB:A0A8M3B372
|
1706 | |||||||||
|
UniProtKB:A0A8M3AT50
|
1689 | |||||||||
|
UniProtKB:A0A8M2BD05
|
1698 | |||||||||
|
UniProtKB:A0A8M3B085
|
1703 |
Interactions and Pathways
No data available
Plasmids
No data available