Reactome | UniProt:Q96Q42 ALS2

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UniProt:Q96Q42 ALS2 Show undefined attributes

chain	chain:1-1657
checksum	0DF8AC7B259F255A
comment	FUNCTION May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity).SUBUNIT Forms a heteromeric complex with ALS2CL. Interacts with ALS2CL.INTERACTION The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SEQUENCE CAUTION Extended N-terminus.ONLINE INFORMATION ALS genetic mutations db
crossReference	[DatabaseIdentifier:11451899] ENSEMBL:ENSG00000003393 [DatabaseIdentifier:11589145] ENSEMBL:ENSP00000505043 [DatabaseIdentifier:11589144] ENSEMBL:ENSP00000505092 [DatabaseIdentifier:11589142] ENSEMBL:ENSP00000505968 [DatabaseIdentifier:11589141] ENSEMBL:ENSP00000505665 [DatabaseIdentifier:11589139] ENSEMBL:ENSP00000264276 [DatabaseIdentifier:11589140] ENSEMBL:ENSP00000505187 [DatabaseIdentifier:11589146] ENSEMBL:ENSP00000429223 [DatabaseIdentifier:11589138] ENSEMBL:ENSP00000386384 [DatabaseIdentifier:11589143] ENSEMBL:ENSP00000505218 [DatabaseIdentifier:11711838] ENSEMBL:ENST00000679503 [DatabaseIdentifier:11711843] ENSEMBL:ENST00000409632 [DatabaseIdentifier:11711840] ENSEMBL:ENST00000679435 [DatabaseIdentifier:11711837] ENSEMBL:ENST00000467448 [DatabaseIdentifier:11711844] ENSEMBL:ENST00000679516 [DatabaseIdentifier:11711841] ENSEMBL:ENST00000680861 [DatabaseIdentifier:11711845] ENSEMBL:ENST00000680163 [DatabaseIdentifier:11711839] ENSEMBL:ENST00000680188 [DatabaseIdentifier:11711842] ENSEMBL:ENST00000264276 [DatabaseIdentifier:11782394] GeneCards:ALS2 [DatabaseIdentifier:11798079] GlyGen:Q96Q42 [DatabaseIdentifier:11835512] HPA:ENSG00000003393-ALS2 [DatabaseIdentifier:12119969] OpenTargets:ENSG00000003393 [DatabaseIdentifier:12135367] Orphanet:ALS2 [DatabaseIdentifier:12237163] PRO:Q96Q42 [DatabaseIdentifier:12280309] Pharos - Targets:Q96Q42 [DatabaseIdentifier:12397875] RefSeq:NP_065970.2 [DatabaseIdentifier:12397874] RefSeq:NP_001129217.1 [DatabaseIdentifier:12397873] RefSeq:XP_006712717.1
databaseName	UniProt
dbId	84890
description	recommendedName: Alsin alternativeName: Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein alternativeName: Amyotrophic lateral sclerosis 2 protein
displayName	UniProt:Q96Q42 ALS2
geneName	ALS2 ALS2CR6 KIAA1563
identifier	Q96Q42
isSequenceChanged	false
keyword	Acetylation Alternative splicing Amyotrophic lateral sclerosis Guanine-nucleotide releasing factor Neurodegeneration Phosphoprotein Proteomics identification Reference proteome Repeat
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	ALS2
otherIdentifier	11719649_at 11730691_s_at 11750622_a_at 11761970_at 11761994_at 1555284_PM_at 1555284_at 16907353 226291_PM_at 226291_at 232184_PM_at 232184_at 2595034 2595035 2595036 2595037 2595038 2595039 2595041 2595043 2595044 2595045 2595046 2595047 2595048 2595049 2595050 2595051 2595052 2595053 2595055 2595056 2595057 2595058 2595059 2595060 2595061 2595062 2595063 2595064 2595065 2595066 2595067 2595068 2595069 2595070 2595071 2595072 2595073 2595074 2595075 2595078 2595079 2595080 2595081 2595082 2595083 2595084 2595087 2595088 2595089 2595090 2595091 2595092 2595093 2595094 2595095 2595096 2595097 2595098 2595100 2595101 2595103 2595104 2595106 2595110 2595111 2595112 2595113 2595114 2595115 2595116 2595117 2595118 2595119 2595120 2595122 2595123 2595124 46359_at 51167_at 57679 80552_at 8058295 A_23_P209430 A_23_P377664 A_24_P222410 A_33_P3415336 A_33_P3415340 A_33_P3415345 GE541424 GE79204 GE872874 GO:0001662 GO:0001726 GO:0001881 GO:0005085 GO:0005096 GO:0005515 GO:0005634 GO:0005737 GO:0005768 GO:0005769 GO:0005813 GO:0005815 GO:0005829 GO:0006979 GO:0007032 GO:0007041 GO:0007528 GO:0007626 GO:0008104 GO:0014069 GO:0016050 GO:0016192 GO:0016197 GO:0030027 GO:0030425 GO:0030426 GO:0031267 GO:0031982 GO:0032991 GO:0034330 GO:0035022 GO:0035249 GO:0042802 GO:0042803 GO:0043197 GO:0043226 GO:0043539 GO:0043547 GO:0045860 GO:0048812 GO:0051036 GO:0051260 GO:0065003 GO:0065008 GO:0098772 GO:0098978 GO:0099072 HMNXSV003043342 HMNXSV003046024 HMNXSV003050323 HMNXSV003054616 Hs.149391.0.S1_3p_at Hs.27669.0.S1_3p_at Hs2.27669.3.A1_3p_at ILMN_1750256 PH_hs_0002446 TC02002678.hg TC02004781.hg
physicalEntity	[EntityWithAccessionedSequence:R-HSA-8875298] ALS2 [cytosol] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000003393] ENSEMBL:ENSG00000003393 ALS2 [ReferenceDNASequence:12695912] UCSC:Q96Q42 ALS2 [ReferenceDNASequence:11350975] BioGPS Gene:57679 ALS2 [ReferenceDNASequence:11393726] COSMIC - genes:ALS2 ALS2 [ReferenceDNASequence:11405753] CTD Gene:57679 ALS2 [ReferenceDNASequence:11429711] dbSNP Gene:57679 ALS2 [ReferenceDNASequence:11814000] HGNC:443 ALS2 [ReferenceDNASequence:11890764] KEGG:hsa:57679 ALS2 [ReferenceDNASequence:11980764] Monarch:57679 ALS2 [ReferenceDNASequence:12064857] NCBI Gene:57679 ALS2 [ReferenceDNASequence:12105824] OMIM:606352 ALS2
referenceTranscript	[ReferenceRNASequence:12579593] RefSeq:XM_006712654.4 ALS2 [ReferenceRNASequence:12579595] RefSeq:NM_001135745.2 ALS2 [ReferenceRNASequence:12579594] RefSeq:NM_020919.3 ALS2
schemaClass	ReferenceGeneProduct
secondaryIdentifier	ALS2_HUMAN Q53TT1 Q53TV2 Q8N1E0 Q96PC4 Q96Q41 Q9H973 Q9HCK9
sequenceLength	1657
species	[Species:48887] Homo sapiens
stId	uniprot:Q96Q42
url	http://purl.uniprot.org/uniprot/Q96Q42

Referrals

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-8875298] ALS2 [cytosol]
(interactor)	[UndirectedInteraction:11138943] UniProt:P31946 <-> UniProt:Q96Q42 (IntAct) [UndirectedInteraction:11237929] UniProt:Q9UBS4 <-> UniProt:Q96Q42 (IntAct) [UndirectedInteraction:11243547] UniProt:P61981 <-> UniProt:Q96Q42 (IntAct) [UndirectedInteraction:11264881] UniProt:P62258 <-> UniProt:Q96Q42 (IntAct) [UndirectedInteraction:11288149] UniProt:P63104 <-> UniProt:Q96Q42 (IntAct)