Identity
HGNC
LOCATION
17q21.32
LOCUSID
ALIAS
Bos1,EPM6,GS27
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: 9570
MIM: 604027
HGNC: 4431
Ensembl: ENSG00000108433
Variants:
dbSNP: 9570
ClinVar: 9570
TCGA: ENSG00000108433
COSMIC: GOSR2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37895210 | 2023 | Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy. | 4 |
| 37895210 | 2023 | Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy. | 4 |
| 35132965 | 2022 | Computational estimates of annular diameter reveal genetic determinants of mitral valve function and disease. | 7 |
| 35132965 | 2022 | Computational estimates of annular diameter reveal genetic determinants of mitral valve function and disease. | 7 |
| 29855340 | 2018 | TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy. | 21 |
| 29855340 | 2018 | TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy. | 21 |
| 28978487 | 2017 | Mutations in Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity. | 18 |
| 28982678 | 2017 | Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies. | 5 |
| 28978487 | 2017 | Mutations in Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity. | 18 |
| 28982678 | 2017 | Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies. | 5 |
| 26760525 | 2016 | SNAREs in the maturation and function of LROs. | 3 |
| 27618868 | 2016 | GOSR2: a progressive myoclonus epilepsy gene. | 9 |
| 26760525 | 2016 | SNAREs in the maturation and function of LROs. | 3 |
| 27618868 | 2016 | GOSR2: a progressive myoclonus epilepsy gene. | 9 |
| 24458321 | 2014 | Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation. | 16 |
Citation
Dessen P
GOSR2 (golgi SNAP receptor complex member 2)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56148/
