Version 5.4
Homo sapiens Gene: ALS2
Summary
InnateDB Gene IDBG-78753.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ALS2
Gene Name amyotrophic lateral sclerosis 2 (juvenile)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000003393
Encoded Proteins
IDBP-78755
amyotrophic lateral sclerosis 2 (juvenile)
IDBP-293154
amyotrophic lateral sclerosis 2 (juvenile)
IDBP-293151
amyotrophic lateral sclerosis 2 (juvenile)
IDBP-388386
amyotrophic lateral sclerosis 2 (juvenile)
IDBP-481135
amyotrophic lateral sclerosis 2 (juvenile)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 2:201700554-201781189
Strand Reverse strand
Band q33.1
Transcripts
ENST00000264276 ENSP00000264276
ENST00000410052 ENSP00000386948
ENST00000409632 ENSP00000386384
ENST00000439495 ENSP00000403832
ENST00000489440
ENST00000482891
ENST00000494017
ENST00000483703
ENST00000482789
ENST00000467448 ENSP00000429223
ENST00000496244
ENST00000462747
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 12 [view]
Protein-Protein 8 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005087 Ran 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:0007032 endosome organization
GO:0007528 neuromuscular junction development
GO:0007626 locomotory behavior
GO:0008104 protein localization
GO:0008219 cell death
GO:0016050 vesicle organization
GO:0016197 endosomal transport
GO:0032313 regulation of Rab GTPase activity
GO:0032321 positive regulation of Rho GTPase activity
GO:0032851 positive regulation of Rab GTPase activity
GO:0032853 positive regulation of Ran GTPase activity
GO:0032855 positive regulation of Rac GTPase activity
GO:0035022 positive regulation of Rac protein signal transduction
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
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000026024
View Gene Order
ENSBTAG00000007395
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa05014
Amyotrophic lateral sclerosis (ALS) pathway
INOH
PID NCI
Cross-References
SwissProt Q96Q42
TrEMBL A8K4R4 B3KPJ0 J3KQ33 J3KQ43
UniProt Splice Variant
Entrez Gene 57679
UniGene Hs.471096 Hs.621812
RefSeq NM_001135745 NM_020919 XM_005246709 XM_005246710 XM_006712654 XM_006712655
HUGO HGNC:443
OMIM 606352
CCDS CCDS42800 CCDS46492
HPRD
IMGT
EMBL AB046783 AB053305 AB053306 AC007242 AC007279 AF391100 AK023024 AK056413 AK291029 BC029174 CH471063
GenPept AAH29174 AAL14103 AAX93181 AAY15058 BAB13389 BAB14362 BAB69014 BAB69015 BAF83718 BAG51702 EAW70291
RNA Seq Atlas 57679

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