Version 5.4
Mus musculus Gene: Als2
Summary
InnateDB Gene IDBG-157987.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Als2
Gene Name amyotrophic lateral sclerosis 2 (juvenile)
Synonyms 3222402C23Rik; 9430073A21Rik; Als2cr6; Alsin; mKIAA1563
Species Mus musculus
Ensembl Gene ENSMUSG00000026024
Encoded Proteins
IDBP-157993
amyotrophic lateral sclerosis 2 (juvenile) homolog (human)
IDBP-539529
amyotrophic lateral sclerosis 2 (juvenile) homolog (human)
IDBP-788850
amyotrophic lateral sclerosis 2 (juvenile)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000003393:
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 Information
Type Protein coding
Genomic Location Chromosome 1:59162926-59237231
Strand Reverse strand
Band C1.3
Transcripts
ENSMUST00000027178 ENSMUSP00000027178
ENSMUST00000163058 ENSMUSP00000125753
ENSMUST00000159166
ENSMUST00000160945 ENSMUSP00000140990
ENSMUST00000188469
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated
Total 5 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005089 Rho guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0017112 Rab guanyl-nucleotide exchange factor activity
GO:0017137 Rab GTPase binding
GO:0030676 Rac guanyl-nucleotide exchange factor activity
GO:0042803 protein homodimerization activity
GO:0043539 protein serine/threonine kinase activator activity
Biological Process
GO:0001662 behavioral fear response
GO:0001881 receptor recycling
GO:0006979 response to oxidative stress
GO:0007528 neuromuscular junction development
GO:0007626 locomotory behavior
GO:0008104 protein localization
GO:0016050 vesicle organization
GO:0016197 endosomal transport
GO:0032313 regulation of Rab GTPase activity
GO:0032314 regulation of Rac GTPase activity
GO:0032851 positive regulation of Rab GTPase activity
GO:0032855 positive regulation of Rac GTPase activity
GO:0035023 regulation of Rho protein signal transduction
GO:0035249 synaptic transmission, glutamatergic
GO:0045860 positive regulation of protein kinase activity
GO:0048812 neuron projection morphogenesis
GO:0051036 regulation of endosome size
GO:0071902 positive regulation of protein serine/threonine kinase activity
Cellular Component
GO:0001726 ruffle
GO:0005737 cytoplasm
GO:0005769 early endosome
GO:0005813 centrosome
GO:0005829 cytosol
GO:0014069 postsynaptic density
GO:0030027 lamellipodium
GO:0030425 dendrite
GO:0030426 growth cone
GO:0031982 vesicle
GO:0043197 dendritic spine
GO:0043234 protein complex
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000003393
View Gene Order
ENSBTAG00000007395
Not yet available
Pathways
NETPATH
REACTOME
KEGG
mmu05014
Amyotrophic lateral sclerosis (ALS) pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
hsa05014
Amyotrophic lateral sclerosis (ALS) pathway
INOH
PID NCI
Cross-References
SwissProt Q920R0
TrEMBL
UniProt Splice Variant
Entrez Gene 74018
UniGene Mm.272078
RefSeq NM_001159948 NM_028717 NM_146109
OMIM
CCDS CCDS35583
HPRD
IMGT
MGI ID MGI:1921268
MGI Symbol Als2
EMBL AB053307 AC153652 AK014320 BC031479 BC046828 CH466548
GenPept AAH31479 AAH46828 BAB29271 BAB69016 EDL00124
RNA Seq Atlas 74018

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca