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ALS2 (amyotrophic lateral sclerosis 2 (juvenile))

Identity

Other namesALS2CR6
ALSJ
IAHSP
PLSJ
HGNC (Hugo) ALS2
LocusID (NCBI) 57679
Location 2q33.1
Location_base_pair Starts at 202624181 and ends at 202645895 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)ALS2   443
Cards
Entrez_Gene (NCBI)ALS2  57679  amyotrophic lateral sclerosis 2 (juvenile)
GeneCards (Weizmann)ALS2
Ensembl (Hinxton)ENSG00000003393 [Gene_View]  chr2:202624181-202645895 [Contig_View]  ALS2 [Vega]
ICGC DataPortalENSG00000003393
cBioPortalALS2
AceView (NCBI)ALS2
Genatlas (Paris)ALS2
WikiGenes57679
SOURCE (Princeton)NM_001135745 NM_020919
Genomic and cartography
GoldenPath (UCSC)ALS2  -  2q33.1   chr2:202624181-202645895 -  2q33.1   [Description]    (hg19-Feb_2009)
EnsemblALS2 - 2q33.1 [CytoView]
Mapping of homologs : NCBIALS2 [Mapview]
OMIM205100   606352   606353   607225   
Gene and transcription
Genbank (Entrez)AB046783 AB053305 AB053306 AF391100 AK023024
RefSeq transcript (Entrez)NM_001135745 NM_020919
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_008775 NT_005403 NW_001838863 NW_004929305
Consensus coding sequences : CCDS (NCBI)ALS2
Cluster EST : UnigeneHs.621812 [ NCBI ]
CGAP (NCI)Hs.621812
Alternative Splicing : Fast-db (Paris)GSHG0018277
Alternative Splicing GalleryENSG00000003393
Gene ExpressionALS2 [ NCBI-GEO ]     ALS2 [ SEEK ]   ALS2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96Q42 (Uniprot)
NextProtQ96Q42  [Medical]
With graphics : InterProQ96Q42
Splice isoforms : SwissVarQ96Q42 (Swissvar)
Domaine pattern : Prosite (Expaxy)DH_2 (PS50010)    RCC1_2 (PS00626)    RCC1_3 (PS50012)    VPS9 (PS51205)   
Domains : Interpro (EBI)DH-domain [organisation]   MORN [organisation]   PH_like_dom [organisation]   Pleckstrin_homology [organisation]   RCC1/BLIP-II [organisation]   Reg_chr_condens [organisation]   VPS9 [organisation]  
Related proteins : CluSTrQ96Q42
Domain families : Pfam (Sanger)MORN (PF02493)    RCC1 (PF00415)    RhoGEF (PF00621)    VPS9 (PF02204)   
Domain families : Pfam (NCBI)pfam02493    pfam00415    pfam00621    pfam02204   
Domain families : Smart (EMBL)MORN (SM00698)  PH (SM00233)  
DMDM Disease mutations57679
Blocks (Seattle)Q96Q42
Human Protein AtlasENSG00000003393 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ96Q42
HPRD05893
IPIIPI00295004   IPI00242146   IPI00295005   IPI00902478   IPI00916585   IPI01012222   
Protein Interaction databases
DIP (DOE-UCLA)Q96Q42
IntAct (EBI)Q96Q42
FunCoupENSG00000003393
BioGRIDALS2
InParanoidQ96Q42
Interologous Interaction database Q96Q42
IntegromeDBALS2
STRING (EMBL)ALS2
Ontologies - Pathways
Ontology : AmiGObehavioral fear response  ruffle  receptor recycling  guanyl-nucleotide exchange factor activity  Ran guanyl-nucleotide exchange factor activity  protein binding  early endosome  centrosome  cytosol  response to oxidative stress  endosome organization  endosome organization  neuromuscular junction development  locomotory behavior  protein localization  cell death  postsynaptic density  vesicle organization  endosomal transport  Rab guanyl-nucleotide exchange factor activity  Rab GTPase binding  Rab GTPase binding  lamellipodium  dendrite  growth cone  Rac guanyl-nucleotide exchange factor activity  vesicle  positive regulation of Rab GTPase activity  positive regulation of Ran GTPase activity  positive regulation of Rac GTPase activity  positive regulation of Rac protein signal transduction  synaptic transmission, glutamatergic  protein homodimerization activity  dendritic spine  protein complex  protein serine/threonine kinase activator activity  positive regulation of protein kinase activity  neuron projection morphogenesis  regulation of endosome size  positive regulation of protein serine/threonine kinase activity  
Ontology : EGO-EBIbehavioral fear response  ruffle  receptor recycling  guanyl-nucleotide exchange factor activity  Ran guanyl-nucleotide exchange factor activity  protein binding  early endosome  centrosome  cytosol  response to oxidative stress  endosome organization  endosome organization  neuromuscular junction development  locomotory behavior  protein localization  cell death  postsynaptic density  vesicle organization  endosomal transport  Rab guanyl-nucleotide exchange factor activity  Rab GTPase binding  Rab GTPase binding  lamellipodium  dendrite  growth cone  Rac guanyl-nucleotide exchange factor activity  vesicle  positive regulation of Rab GTPase activity  positive regulation of Ran GTPase activity  positive regulation of Rac GTPase activity  positive regulation of Rac protein signal transduction  synaptic transmission, glutamatergic  protein homodimerization activity  dendritic spine  protein complex  protein serine/threonine kinase activator activity  positive regulation of protein kinase activity  neuron projection morphogenesis  regulation of endosome size  positive regulation of protein serine/threonine kinase activity  
Pathways : KEGGAmyotrophic lateral sclerosis (ALS)   
Protein Interaction DatabaseALS2
Wikipedia pathwaysALS2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ALS2
snp3D : Map Gene to Disease57679
SNP (GeneSNP Utah)ALS2
SNP : HGBaseALS2
Genetic variants : HAPMAPALS2
Exome VariantALS2
1000_GenomesALS2 
ICGC programENSG00000003393 
Somatic Mutations in Cancer : COSMICALS2 
CONAN: Copy Number AnalysisALS2 
Mutations and Diseases : HGMDALS2
Genomic VariantsALS2  ALS2 [DGVbeta]
dbVarALS2
ClinVarALS2
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM205100    606352    606353    607225   
MedgenALS2
GENETestsALS2
Disease Genetic AssociationALS2
Huge Navigator ALS2 [HugePedia]  ALS2 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneALS2
Homology/Alignments : Family Browser (UCSC)ALS2
Phylogenetic Trees/Animal Genes : TreeFamALS2
Chemical/Protein Interactions : CTD57679
Chemical/Pharm GKB GenePA24732
Clinical trialALS2
Cancer Resource (Charite)ENSG00000003393
Other databases
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
CoreMineALS2
iHOPALS2
OncoSearchALS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jul 26 14:23:41 CEST 2014

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