ALS2 (alsin Rho guanine nucleotide exchange factor ALS2)

2006-10-01  

Identity

HGNC
LOCATION
2q33.1
LOCUSID
ALIAS
ALS2CR6,ALSJ,IAHSP,PLSJ
FUSION GENES

Other Information

Locus ID:

NCBI: 57679
MIM: 606352
HGNC: 443
Ensembl: ENSG00000003393

Variants:

dbSNP: 57679
ClinVar: 57679
TCGA: ENSG00000003393
COSMIC: ALS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000003393ENST00000264276Q96Q42
ENSG00000003393ENST00000409632J3KQ33
ENSG00000003393ENST00000410052J3KQ43
ENSG00000003393ENST00000439495H0Y696

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Amyotrophic lateral sclerosis (ALS)KEGGko05014
Amyotrophic lateral sclerosis (ALS)KEGGhsa05014
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
128376912003ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics.60
121457482002Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.40
155794682005A Rac1/phosphatidylinositol 3-kinase/Akt3 anti-apoptotic pathway, triggered by AlsinLF, the product of the ALS2 gene, antagonizes Cu/Zn-superoxide dismutase (SOD1) mutant-induced motoneuronal cell death.33
160490052005ALS2/Alsin regulates Rac-PAK signaling and neurite outgrowth.25
149702332004Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants.23
146684312003Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease.21
129191352003The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings.13
153883342004ALS2CL, the novel protein highly homologous to the carboxy-terminal half of ALS2, binds to Rab5 and modulates endosome dynamics.13
179551972007Alsin and the molecular pathways of amyotrophic lateral sclerosis.12

Citation

Dessen P

ALS2 (alsin Rho guanine nucleotide exchange factor ALS2)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43115/als2