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ALS2 (alsin Rho guanine nucleotide exchange factor ALS2)

Identity

Alias (NCBI)ALS2CR6
ALSJ
IAHSP
PLSJ
HGNC (Hugo) ALS2
HGNC Alias namealsin
HGNC Previous nameALS2CR6
HGNC Previous nameamyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6
 amyotrophic lateral sclerosis 2 (juvenile)
LocusID (NCBI) 57679
Atlas_Id 43115
Location 2q33.1  [Link to chromosome band 2q33]
Location_base_pair Starts at 201700267 and ends at 201780933 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ALS2 (2q33.1)::ALS2 (2q33.1)TSPAN31 (12q14.1)::ALS2 (2q33.1)

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
LRG (Locus Reference Genomic)LRG_654
Cards
Entrez_Gene (NCBI)ALS2    alsin Rho guanine nucleotide exchange factor ALS2
AliasesALS2CR6; ALSJ; IAHSP; PLSJ
GeneCards (Weizmann)ALS2
Ensembl hg19 (Hinxton)ENSG00000003393 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000003393 [Gene_View]  ENSG00000003393 [Sequence]  chr2:201700267-201780933 [Contig_View]  ALS2 [Vega]
ICGC DataPortalENSG00000003393
TCGA cBioPortalALS2
AceView (NCBI)ALS2
Genatlas (Paris)ALS2
SOURCE (Princeton)ALS2
Genetics Home Reference (NIH)ALS2
Genomic and cartography
GoldenPath hg38 (UCSC)ALS2  -     chr2:201700267-201780933 -  2q33.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ALS2  -     2q33.1   [Description]    (hg19-Feb_2009)
GoldenPathALS2 - 2q33.1 [CytoView hg19]  ALS2 - 2q33.1 [CytoView hg38]
ImmunoBaseENSG00000003393
Genome Data Viewer NCBIALS2 [Mapview hg19]  
OMIM205100   606352   606353   607225   
Gene and transcription
Genbank (Entrez)AB046783 AB053305 AB053306 AF391100 AK023024
RefSeq transcript (Entrez)NM_001135745 NM_020919
Consensus coding sequences : CCDS (NCBI)ALS2
Gene ExpressionALS2 [ NCBI-GEO ]   ALS2 [ EBI - ARRAY_EXPRESS ]   ALS2 [ SEEK ]   ALS2 [ MEM ]
Gene Expression Viewer (FireBrowse)ALS2 [ Firebrowse - Broad ]
GenevisibleExpression of ALS2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57679
GTEX Portal (Tissue expression)ALS2
Human Protein AtlasENSG00000003393-ALS2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96Q42   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96Q42  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96Q42
PhosPhoSitePlusQ96Q42
Domaine pattern : Prosite (Expaxy)DH_2 (PS50010)    RCC1_2 (PS00626)    RCC1_3 (PS50012)    VPS9 (PS51205)   
Domains : Interpro (EBI)DBL_dom_sf    DH-domain    MORN    PH-like_dom_sf    RCC1/BLIP-II    Reg_chr_condens    VPS9    VPS9_dom_sf   
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)  
Conserved Domain (NCBI)ALS2
SuperfamilyQ96Q42
AlphaFold pdb e-kbQ96Q42   
Human Protein Atlas [tissue]ENSG00000003393-ALS2 [tissue]
HPRD05893
Protein Interaction databases
DIP (DOE-UCLA)Q96Q42
IntAct (EBI)Q96Q42
BioGRIDALS2
STRING (EMBL)ALS2
ZODIACALS2
Ontologies - Pathways
QuickGOQ96Q42
Ontology : AmiGObehavioral fear response  in utero embryonic development  ruffle  receptor recycling  guanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  GTPase activator activity  protein binding  nucleus  early endosome  centrosome  cytosol  cytosol  response to oxidative stress  endosome organization  endosome organization  lysosomal transport  axonogenesis  neuromuscular junction development  locomotory behavior  protein localization  cell death  postsynaptic density  membrane  endosomal transport  Rac protein signal transduction  lamellipodium  dendrite  growth cone  small GTPase binding  small GTPase binding  vesicle  protein-containing complex  positive regulation of Rac protein signal transduction  synaptic transmission, glutamatergic  identical protein binding  protein homodimerization activity  neuronal cell body  dendritic spine  protein serine/threonine kinase activator activity  positive regulation of GTPase activity  positive regulation of protein kinase activity  neuron projection morphogenesis  regulation of endosome size  protein homooligomerization  positive regulation of protein serine/threonine kinase activity  
Ontology : EGO-EBIbehavioral fear response  in utero embryonic development  ruffle  receptor recycling  guanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  GTPase activator activity  protein binding  nucleus  early endosome  centrosome  cytosol  cytosol  response to oxidative stress  endosome organization  endosome organization  lysosomal transport  axonogenesis  neuromuscular junction development  locomotory behavior  protein localization  cell death  postsynaptic density  membrane  endosomal transport  Rac protein signal transduction  lamellipodium  dendrite  growth cone  small GTPase binding  small GTPase binding  vesicle  protein-containing complex  positive regulation of Rac protein signal transduction  synaptic transmission, glutamatergic  identical protein binding  protein homodimerization activity  neuronal cell body  dendritic spine  protein serine/threonine kinase activator activity  positive regulation of GTPase activity  positive regulation of protein kinase activity  neuron projection morphogenesis  regulation of endosome size  protein homooligomerization  positive regulation of protein serine/threonine kinase activity  
Pathways : KEGGKEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS   
NDEx NetworkALS2
Atlas of Cancer Signalling NetworkALS2
Wikipedia pathwaysALS2
Orthology - Evolution
OrthoDB57679
GeneTree (enSembl)ENSG00000003393
Phylogenetic Trees/Animal Genes : TreeFamALS2
Homologs : HomoloGeneALS2
Homology/Alignments : Family Browser (UCSC)ALS2
Gene fusions - Rearrangements
Fusion : QuiverALS2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALS2
dbVarALS2
ClinVarALS2
MonarchALS2
1000_GenomesALS2 
Exome Variant ServerALS2
GNOMAD BrowserENSG00000003393
Varsome BrowserALS2
ACMGALS2 variants
VarityQ96Q42
Genomic Variants (DGV)ALS2 [DGVbeta]
DECIPHERALS2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisALS2 
Mutations
ICGC Data PortalALS2 
TCGA Data PortalALS2 
Broad Tumor PortalALS2
OASIS PortalALS2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICALS2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DALS2
Mutations and Diseases : HGMDALS2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaALS2
DgiDB (Drug Gene Interaction Database)ALS2
DoCM (Curated mutations)ALS2
CIViC (Clinical Interpretations of Variants in Cancer)ALS2
Cancer3DALS2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM205100    606352    606353    607225   
Orphanet19530    20839    21137   
DisGeNETALS2
MedgenALS2
Genetic Testing Registry ALS2
NextProtQ96Q42 [Medical]
GENETestsALS2
Target ValidationALS2
Huge Navigator ALS2 [HugePedia]
ClinGenALS2
Clinical trials, drugs, therapy
MyCancerGenomeALS2
Protein Interactions : CTDALS2
Pharm GKB GenePA24732
PharosQ96Q42
Clinical trialALS2
Miscellaneous
canSAR (ICR)ALS2
HarmonizomeALS2
ARCHS4ALS2
DataMed IndexALS2
Probes
Litterature
PubMed69 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXALS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:22:14 CET 2022

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