ALS2


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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
ALS2, alsin Rho guanine nucleotide exchange factorMIM:606352Ensembl:ENSG00000003393HGNC:HGNC:443PA247322q33.1

GO terms in ALS2


Term TypeEvidence TypeGO Term IDGO Des.
CCISSGO:0001726ruffle
CCIDAGO:0005769early endosome
CCIDAGO:0005813centrosome
CCIDAGO:0005829cytosol
CCTASGO:0005829cytosol
CCIEAGO:0014069postsynaptic density
CCIEAGO:0016020membrane
CCISSGO:0030027lamellipodium
CCIDAGO:0030425dendrite
CCISSGO:0030426growth cone
CCIDAGO:0031982vesicle
CCIDAGO:0032991protein-containing complex
CCIEAGO:0043025neuronal cell body
CCIEAGO:0043197dendritic spine
CCIEAGO:0043231intracellular membrane-bounded organelle
BPIEAGO:0001662behavioral fear response
BPIEAGO:0001701in utero embryonic development
BPIEAGO:0001881receptor recycling
BPIEAGO:0006979response to oxidative stress
BPIGIGO:0007032endosome organization
BPNASGO:0007032endosome organization
BPIEAGO:0007409axonogenesis
BPIEAGO:0007528neuromuscular junction development
BPIEAGO:0007626locomotory behavior
BPIEAGO:0008104protein localization
BPIEAGO:0008219cell death
BPIEAGO:0016197endosomal transport
BPIEAGO:0016601Rac protein signal transduction
BPICGO:0035022positive regulation of Rac protein signal transduction
BPIEAGO:0035023regulation of Rho protein signal transduction
BPIEAGO:0035249synaptic transmission, glutamatergic
BPIDAGO:0043547positive regulation of GTPase activity
BPIDAGO:0045860positive regulation of protein kinase activity
BPIDAGO:0048812neuron projection morphogenesis
BPIEPGO:0051036regulation of endosome size
BPIEAGO:0071902positive regulation of protein serine/threonine kinase activity
MFIDAGO:0005085guanyl-nucleotide exchange factor activity
MFIPIGO:0005515protein binding
MFIDAGO:0017112Rab guanyl-nucleotide exchange factor activity
MFTASGO:0017112Rab guanyl-nucleotide exchange factor activity
MFIDAGO:0017137Rab GTPase binding
MFNASGO:0017137Rab GTPase binding
MFIDAGO:0030676Rac guanyl-nucleotide exchange factor activity
MFIPIGO:0042803protein homodimerization activity
MFIDAGO:0043539protein serine/threonine kinase activator activity

Gene expression in normal tissue: ALS2

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in ALS2


DatabasePathway IDPathway Des.
reactomeR-HSA-199991Membrane Trafficking
reactomeR-HSA-5653656Vesicle-mediated transport
reactomeR-HSA-8876198RAB GEFs exchange GTP for GDP on RABs
reactomeR-HSA-9007101Rab regulation of trafficking
kegghsa05014Amyotrophic lateral sclerosis (ALS) - Homo sapiens (human)
wikipathwaysWP2447Amyotrophic lateral sclerosis (ALS)

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD512nutlin 33
iGMDRD330BRD41326
iGMDRD701NVP-AUY9223
iGMDRD424Tamatinib3
iGMDRD351GW843682X5
iGMDRD219Bax channel blocker3
iGMDRD85Ursolic acid1
iGMDRD945ML2143
iGMDRD211(1S,3R)-RSL33
iGMDRD123Isoevodiamine3
iGMDRD103SN-383
iGMDRD121GMX17783
iGMDRD105Triptolide2
iGMDRD289Parthenolide4
iGMDRD705Nakiterpiosin2
iGMDRD434BMS-5369241
iGMDRD286Nsc 6328396
iGMDRD871BRD63682
iGMDRD414MST-3122
iGMDRD872BRD71373
iGMDRD322FK 8663
iGMDRD246NPC266
iGMDRD599Salermide4
iGMDRD387CHIR-990211
iGMDRD670ML 2103
iGMDRD61Kinetin riboside3
iGMDRD446LY 21832403
iGMDRD466Chaetocin3
iGMDRD679Bistramide A1
iGMDRD255SB2250021
iGMDRD138PX 123
iGMDRD318PAC-13
iGMDRD441TW 375
iGMDRD52Rotenone3
iGMDRD187BRD98761
iGMDRD562Navitoclax2
iGMDRD188Piperlongumine2
iGMDRD451Serdemetan2
iGMDRD690PRIMA-1MET3

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ALS2

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