ALS2

Amyotrophic lateral sclerosis 2 (juvenile)
Identifiers
Symbols	ALS2 ; ALS2CR6; ALSJ; IAHSP; PLSJ
External IDs	OMIM: 606352 MGI: 1921268 HomoloGene: 23264 GeneCards: ALS2 Gene
Gene ontology Molecular function • guanyl-nucleotide exchange factor activity • Ran guanyl-nucleotide exchange factor activity • protein binding • Rab guanyl-nucleotide exchange factor activity • Rab GTPase binding • Rac guanyl-nucleotide exchange factor activity • protein homodimerization activity • protein serine/threonine kinase activator activity Cellular component • ruffle • early endosome • centrosome • cytosol • postsynaptic density • membrane • lamellipodium • axon • dendrite • growth cone • vesicle • neuronal cell body • dendritic spine • protein complex Biological process • behavioral fear response • in utero embryonic development • receptor recycling • response to oxidative stress • endosome organization • axonogenesis • neuromuscular junction development • locomotory behavior • protein localization • cell death • vesicle organization • endosomal transport • Rac protein signal transduction • positive regulation of Rac protein signal transduction • regulation of Rho protein signal transduction • synaptic transmission, glutamatergic • positive regulation of GTPase activity • positive regulation of protein kinase activity • neuron projection morphogenesis • regulation of endosome size • positive regulation of protein serine/threonine kinase activity Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	57679	74018
Ensembl	ENSG00000003393	ENSMUSG00000026024
UniProt	Q96Q42	Q920R0
RefSeq (mRNA)	NM_001135745	NM_001159948
RefSeq (protein)	NP_001129217	NP_001153420
Location (UCSC)	Chr 2: 201.7 – 201.78 Mb	Chr 1: 59.16 – 59.24 Mb
PubMed search

Alsin is a protein that in humans is encoded by the ALS2 gene.^[1][2] ALS2 orthologs ^[3] have been identified in all mammals for which complete genome data are available.

See also

• Juvenile primary lateral sclerosis
• Amyotrophic lateral sclerosis

References

1. Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH Jr, Scherer SW, Rouleau GA, Hayden MR, Ikeda JE (Oct 2001). "A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2". Nat Genet 29 (2): 166–73. doi:10.1038/ng1001-166. PMID 11586298.
2. "Entrez Gene: ALS2 amyotrophic lateral sclerosis 2 (juvenile)".
3. "OrthoMaM phylogenetic marker: ALS2 coding sequence".

Further reading

• Hadano S (2002). "[Causative genes for familial amyotrophic lateral sclerosis]". Seikagaku 74 (6): 483–9. PMID 12138710.
• Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
• Hadano S, Nichol K, Brinkman RR, et al. (1999). "A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34". Genomics 55 (1): 106–12. doi:10.1006/geno.1998.5637. PMID 9889004.
• Hosler BA, Sapp PC, Berger R, et al. (2000). "Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33". Neurogenetics 2 (1): 34–42. doi:10.1007/s100480050049. PMID 9933298.
• Nagase T, Kikuno R, Nakayama M, et al. (2001). "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (4): 273–81. doi:10.1093/dnares/7.4.271. PMID 10997877.
• Yang Y, Hentati A, Deng HX, et al. (2001). "The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis". Nat. Genet. 29 (2): 160–5. doi:10.1038/ng1001-160. PMID 11586297.
• Birkenhäger R, Otto E, Schürmann MJ, et al. (2001). "Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure". Nat. Genet. 29 (3): 310–4. doi:10.1038/ng752. PMID 11687798.
• Eymard-Pierre E, Lesca G, Dollet S, et al. (2002). "Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene". Am. J. Hum. Genet. 71 (3): 518–27. doi:10.1086/342359. PMC 379189. PMID 12145748.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Lesca G, Eymard-Pierre E, Santorelli FM, et al. (2004). "Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families". Neurology 60 (4): 674–82. doi:10.1212/01.wnl.0000048207.28790.25. PMID 12601111.
• Otomo A, Hadano S, Okada T, et al. (2003). "ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics". Hum. Mol. Genet. 12 (14): 1671–87. doi:10.1093/hmg/ddg184. PMID 12837691.
• Nagano I, Murakami T, Shiote M, et al. (2003). "Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis". Neurol. Res. 25 (5): 505–9. doi:10.1179/016164103101201733. PMID 12866199.
• Devon RS, Helm JR, Rouleau GA, et al. (2004). "The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings". Clin. Genet. 64 (3): 210–5. doi:10.1034/j.1399-0004.2003.00138.x. PMID 12919135.
• Yamanaka K, Vande Velde C, Eymard-Pierre E, et al. (2004). "Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease". Proc. Natl. Acad. Sci. U.S.A. 100 (26): 16041–6. doi:10.1073/pnas.2635267100. PMC 307689. PMID 14668431.
• Hand CK, Devon RS, Gros-Louis F, et al. (2004). "Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis". Arch. Neurol. 60 (12): 1768–71. doi:10.1001/archneur.60.12.1768. PMID 14676054.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Kanekura K, Hashimoto Y, Niikura T, et al. (2004). "Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants". J. Biol. Chem. 279 (18): 19247–56. doi:10.1074/jbc.M313236200. PMID 14970233.

External links

• GeneReviews/NCBI/NIH/UW entry on ALS2-Related Disorders
• OMIM entries on ALS2-Related Disorders
• Genetics Home Reference- US National Library of Medicine®