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
Expression
All Expression Data
3 figures from Laboissonniere et al., 2018
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With als2a Human Ortholog
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
Associated With als2a Via Experimental Models
No data available
Gene Ontology
Protein Domains
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 motif
Domain Details Per Protein
Protein Length Dbl homology (DH) domain Dbl homology (DH) domain superfamily MORN motif 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:I7L9G3 1590
UniProtKB:F1Q9S9 992
UniProtKB:F1QQ22 401
UniProtKB:A8KB94 350
UniProtKB:F1QS60 1662
UniProtKB:F1QXR1 126
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations