Identity
HGNC
LOCATION
17p13.2
LOCUSID
ALIAS
ACHRE,CMS1D,CMS1E,CMS2A,CMS4A,CMS4B,CMS4C,FCCMS,SCCMS
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: 1145
MIM: 100725
HGNC: 1966
Ensembl: ENSG00000108556
Variants:
dbSNP: 1145
ClinVar: 1145
TCGA: ENSG00000108556
COSMIC: CHRNE
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000108556 | ENST00000649488 | Q04844 |
| ENSG00000108556 | ENST00000649830 | A0A3B3IRM1 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37646703 | 2023 | Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature. | 0 |
| 37646703 | 2023 | Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature. | 0 |
| 30542963 | 2019 | Clinical and genetic characterization of an Italian family with slow-channel syndrome. | 5 |
| 30542963 | 2019 | Clinical and genetic characterization of an Italian family with slow-channel syndrome. | 5 |
| 29367459 | 2018 | Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit. | 5 |
| 29383513 | 2018 | A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome. | 8 |
| 29367459 | 2018 | Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit. | 5 |
| 29383513 | 2018 | A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome. | 8 |
| 28024842 | 2017 | Congenital myasthenic syndrome in Israel: Genetic and clinical characterization. | 17 |
| 28024842 | 2017 | Congenital myasthenic syndrome in Israel: Genetic and clinical characterization. | 17 |
| 27375219 | 2016 | Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating. | 12 |
| 27375219 | 2016 | Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating. | 12 |
| 22178625 | 2012 | A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation. | 6 |
| 22178625 | 2012 | A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation. | 6 |
| 21150643 | 2011 | Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia. | 5 |
Citation
Dessen P
CHRNE (cholinergic receptor nicotinic epsilon subunit)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61818/chrne-(cholinergic-receptor-nicotinic-epsilon-subunit)
