ALS2

Alsin is a protein that in humans is encoded by the ALS2 gene.^[5][6] ALS2 orthologs^[7] have been identified in all mammals for which complete genome data are available.

ALS2
Identifiers
Aliases	ALS2, ALS2CR6, ALSJ, IAHSP, PLSJ, alsin Rho guanine nucleotide exchange factor, alsin Rho guanine nucleotide exchange factor ALS2
External IDs	OMIM: 606352; MGI: 1921268; HomoloGene: 23264; GeneCards: ALS2; OMA:ALS2 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q33.1 Start 201,700,267 bp[1] End 201,782,112 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 C1.3 Start 59,202,085 bp[2] End 59,276,390 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cerebellum cerebellar cortex cerebellar hemisphere right hemisphere of cerebellum cerebellar vermis tibialis anterior muscle myocardium of left ventricle cardiac muscle tissue of right atrium deltoid muscle sural nerve Top expressed in neural layer of retina dentate gyrus of hippocampal formation granule cell cerebellar cortex morula zygote muscle of thigh right kidney ventricular zone yolk sac primary visual cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein homodimerization activity guanyl-nucleotide exchange factor activity protein serine/threonine kinase activator activity protein binding Cellular component cytoplasm vesicle centrosome membrane postsynaptic density intracellular membrane-bounded organelle growth cone ruffle dendritic spine axon soma dendrite early endosome neuron projection lamellipodium cytosol protein-containing complex Biological process protein localization neuron projection morphogenesis synaptic transmission, glutamatergic axonogenesis locomotory behavior vesicle organization regulation of GTPase activity cell death in utero embryonic development behavioral fear response response to oxidative stress endosome organization endosomal transport positive regulation of GTPase activity receptor recycling neuromuscular junction development Rac protein signal transduction regulation of Rho protein signal transduction regulation of endosome size positive regulation of Rac protein signal transduction positive regulation of protein kinase activity positive regulation of protein serine/threonine kinase activity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57679 74018 Ensembl ENSG00000003393 ENSMUSG00000026024 UniProt Q96Q42 Q920R0 RefSeq (mRNA) NM_001135745 NM_020919 NM_001159948 NM_028717 NM_146109 RefSeq (protein) NP_001129217 NP_065970 NP_001153420 NP_082993 NP_666221 Location (UCSC) Chr 2: 201.7 – 201.78 Mb Chr 1: 59.2 – 59.28 Mb PubMed search [3] [4]
Wikidata
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See also

• Juvenile primary lateral sclerosis
• Amyotrophic lateral sclerosis