Identity
HGNC
LOCATION
2q33.1
LOCUSID
ALIAS
ALS2CR6,ALSJ,IAHSP,PLSJ
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57679
MIM: 606352
HGNC: 443
Ensembl: ENSG00000003393
Variants:
dbSNP: 57679
ClinVar: 57679
TCGA: ENSG00000003393
COSMIC: ALS2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000003393 | ENST00000264276 | Q96Q42 |
| ENSG00000003393 | ENST00000409632 | J3KQ33 |
| ENSG00000003393 | ENST00000410052 | J3KQ43 |
| ENSG00000003393 | ENST00000439495 | H0Y696 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33155358 | 2021 | Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations. | 9 |
| 33409823 | 2021 | ALS2-related disorders in Spanish children. | 1 |
| 34243065 | 2021 | The N-terminal intrinsically disordered region mediates intracellular localization and self-oligomerization of ALS2. | 3 |
| 33155358 | 2021 | Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations. | 9 |
| 33409823 | 2021 | ALS2-related disorders in Spanish children. | 1 |
| 34243065 | 2021 | The N-terminal intrinsically disordered region mediates intracellular localization and self-oligomerization of ALS2. | 3 |
| 31959474 | 2020 | ALS2, the small GTPase Rab17-interacting protein, regulates maturation and sorting of Rab17-associated endosomes. | 2 |
| 31959474 | 2020 | ALS2, the small GTPase Rab17-interacting protein, regulates maturation and sorting of Rab17-associated endosomes. | 2 |
| 29469808 | 2018 | Rab5 and Alsin regulate stress-activated cytoprotective signaling on mitochondria. | 42 |
| 30128655 | 2018 | Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant. | 9 |
| 30224357 | 2018 | Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function. | 17 |
| 29469808 | 2018 | Rab5 and Alsin regulate stress-activated cytoprotective signaling on mitochondria. | 42 |
| 30128655 | 2018 | Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant. | 9 |
| 30224357 | 2018 | Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function. | 17 |
| 28502191 | 2017 | A novel mutation in ALS2 associated with severe and progressive infantile onset of spastic paralysis. | 3 |
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-(alsin-rho-guanine-nucleotide-exchange-factor-als2)
