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
Expression
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
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
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
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA als2a-201 (1) Ensembl 5,142 nt
mRNA als2a-202 (1) Ensembl 1,337 nt
mRNA als2a-203 (1) Ensembl 2,979 nt
mRNA als2a-204 (1) Ensembl 377 nt
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations