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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ALS2, alsin Rho guanine nucleotide exchange factor | MIM:606352 | Ensembl:ENSG00000003393 | HGNC:HGNC:443 | PA24732 | 2q33.1 |
GO terms in ALS2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | ISS | GO:0001726 | ruffle |
| CC | IDA | GO:0005769 | early endosome |
| CC | IDA | GO:0005813 | centrosome |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IEA | GO:0014069 | postsynaptic density |
| CC | IEA | GO:0016020 | membrane |
| CC | ISS | GO:0030027 | lamellipodium |
| CC | IDA | GO:0030425 | dendrite |
| CC | ISS | GO:0030426 | growth cone |
| CC | IDA | GO:0031982 | vesicle |
| CC | IDA | GO:0032991 | protein-containing complex |
| CC | IEA | GO:0043025 | neuronal cell body |
| CC | IEA | GO:0043197 | dendritic spine |
| CC | IEA | GO:0043231 | intracellular membrane-bounded organelle |
| BP | IEA | GO:0001662 | behavioral fear response |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | IEA | GO:0001881 | receptor recycling |
| BP | IEA | GO:0006979 | response to oxidative stress |
| BP | IGI | GO:0007032 | endosome organization |
| BP | NAS | GO:0007032 | endosome organization |
| BP | IEA | GO:0007409 | axonogenesis |
| BP | IEA | GO:0007528 | neuromuscular junction development |
| BP | IEA | GO:0007626 | locomotory behavior |
| BP | IEA | GO:0008104 | protein localization |
| BP | IEA | GO:0008219 | cell death |
| BP | IEA | GO:0016197 | endosomal transport |
| BP | IEA | GO:0016601 | Rac protein signal transduction |
| BP | IC | GO:0035022 | positive regulation of Rac protein signal transduction |
| BP | IEA | GO:0035023 | regulation of Rho protein signal transduction |
| BP | IEA | GO:0035249 | synaptic transmission, glutamatergic |
| BP | IDA | GO:0043547 | positive regulation of GTPase activity |
| BP | IDA | GO:0045860 | positive regulation of protein kinase activity |
| BP | IDA | GO:0048812 | neuron projection morphogenesis |
| BP | IEP | GO:0051036 | regulation of endosome size |
| BP | IEA | GO:0071902 | positive regulation of protein serine/threonine kinase activity |
| MF | IDA | GO:0005085 | guanyl-nucleotide exchange factor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0017112 | Rab guanyl-nucleotide exchange factor activity |
| MF | TAS | GO:0017112 | Rab guanyl-nucleotide exchange factor activity |
| MF | IDA | GO:0017137 | Rab GTPase binding |
| MF | NAS | GO:0017137 | Rab GTPase binding |
| MF | IDA | GO:0030676 | Rac guanyl-nucleotide exchange factor activity |
| MF | IPI | GO:0042803 | protein homodimerization activity |
| MF | IDA | GO:0043539 | protein 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
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-8876198 | RAB GEFs exchange GTP for GDP on RABs |
| reactome | R-HSA-9007101 | Rab regulation of trafficking |
| kegg | hsa05014 | Amyotrophic lateral sclerosis (ALS) - Homo sapiens (human) |
| wikipathways | WP2447 | Amyotrophic lateral sclerosis (ALS) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD512 | nutlin 3 | 3 |
| iGMDRD330 | BRD4132 | 6 |
| iGMDRD701 | NVP-AUY922 | 3 |
| iGMDRD424 | Tamatinib | 3 |
| iGMDRD351 | GW843682X | 5 |
| iGMDRD219 | Bax channel blocker | 3 |
| iGMDRD85 | Ursolic acid | 1 |
| iGMDRD945 | ML214 | 3 |
| iGMDRD211 | (1S,3R)-RSL3 | 3 |
| iGMDRD123 | Isoevodiamine | 3 |
| iGMDRD103 | SN-38 | 3 |
| iGMDRD121 | GMX1778 | 3 |
| iGMDRD105 | Triptolide | 2 |
| iGMDRD289 | Parthenolide | 4 |
| iGMDRD705 | Nakiterpiosin | 2 |
| iGMDRD434 | BMS-536924 | 1 |
| iGMDRD286 | Nsc 632839 | 6 |
| iGMDRD871 | BRD6368 | 2 |
| iGMDRD414 | MST-312 | 2 |
| iGMDRD872 | BRD7137 | 3 |
| iGMDRD322 | FK 866 | 3 |
| iGMDRD246 | NPC26 | 6 |
| iGMDRD599 | Salermide | 4 |
| iGMDRD387 | CHIR-99021 | 1 |
| iGMDRD670 | ML 210 | 3 |
| iGMDRD61 | Kinetin riboside | 3 |
| iGMDRD446 | LY 2183240 | 3 |
| iGMDRD466 | Chaetocin | 3 |
| iGMDRD679 | Bistramide A | 1 |
| iGMDRD255 | SB225002 | 1 |
| iGMDRD138 | PX 12 | 3 |
| iGMDRD318 | PAC-1 | 3 |
| iGMDRD441 | TW 37 | 5 |
| iGMDRD52 | Rotenone | 3 |
| iGMDRD187 | BRD9876 | 1 |
| iGMDRD562 | Navitoclax | 2 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD451 | Serdemetan | 2 |
| iGMDRD690 | PRIMA-1MET | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ALS2
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