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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
NameALS2, alsin Rho guanine nucleotide exchange factor
OMIM IDMIM:606352
Ensembl IDEnsembl:ENSG00000003393
HGNC IDHGNC:HGNC:443
PHARMGKB IDPA24732
Map Location2q33.1

GO terms in ALS2


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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
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Gene expression in normal tissue: ALS2

16 tissues mixtureadiposeadrenalbrainbreastcolonheartkidneyliverlunglymph nodeovaryprostateskeletal muscletestesthyroidwhite blood cells

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 61BOWEtissue: BOWE cancer: BOWEL model num: 0BOWELtissue: BOWEL cancer: undefined model num: 28LUNtissue: LUN cancer: LUNG model num: 0LUNGtissue: LUNG cancer: undefined model num: 18BLOOtissue: BLOO cancer: BLOOD model num: 0BLOODtissue: BLOOD cancer: undefined model num: 6

Gene-drug pathway distribution

undefined27Apoptosis regulation3WNT signaling1Biosynthesis of secondary metabolites1p53 pathway1Metabolism1Chromatin histone acetylation1Protein stability and degradation1Cell cycle1Ferroptosis1

Pathways in ALS2


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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)
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD512 nutlin 3 3
iGMDRD330 BRD4132 6
iGMDRD701 NVP-AUY922 3
iGMDRD424 Tamatinib 3
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ALS2

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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