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: 25923
MIM: 609369
HGNC: 24526
Ensembl: ENSG00000184743
Variants:
dbSNP: 25923
ClinVar: 25923
TCGA: ENSG00000184743
COSMIC: ATL3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000184743 | ENST00000398868 | Q6DD88 |
| ENSG00000184743 | ENST00000538786 | F5H6I7 |
| ENSG00000184743 | ENST00000540699 | F5GWF8 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36856139 | 2023 | A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness. | 4 |
| 37102997 | 2023 | Human atlastin-3 is a constitutive ER membrane fusion catalyst. | 4 |
| 36856139 | 2023 | A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness. | 4 |
| 37102997 | 2023 | Human atlastin-3 is a constitutive ER membrane fusion catalyst. | 4 |
| 33988678 | 2021 | Atlastin 2/3 regulate ER targeting of the ULK1 complex to initiate autophagy. | 19 |
| 34090020 | 2021 | Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort. | 2 |
| 33988678 | 2021 | Atlastin 2/3 regulate ER targeting of the ULK1 complex to initiate autophagy. | 19 |
| 34090020 | 2021 | Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort. | 2 |
| 30339187 | 2019 | Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution. | 17 |
| 30666337 | 2019 | A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways. | 23 |
| 30773365 | 2019 | ATL3 Is a Tubular ER-Phagy Receptor for GABARAP-Mediated Selective Autophagy. | 124 |
| 30339187 | 2019 | Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution. | 17 |
| 30666337 | 2019 | A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways. | 23 |
| 30773365 | 2019 | ATL3 Is a Tubular ER-Phagy Receptor for GABARAP-Mediated Selective Autophagy. | 124 |
| 29768202 | 2018 | Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering. | 15 |
Citation
Dessen P
ATL3 (atlastin GTPase 3)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56067/atl3-(atlastin-gtpase-3)
