CHRNE (cholinergic receptor nicotinic epsilon subunit)

2014-11-01  

Identity

HGNC
CHRNE
LOCATION
17p13.2
LOCUSID
1145
ALIAS
ACHRE,CMS1D,CMS1E,CMS2A,CMS4A,CMS4B,CMS4C,FCCMS,SCCMS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1145
MIM: 100725
HGNC: 1966
Ensembl: ENSG00000108556

Variants:

dbSNP: 1145
ClinVar: 1145
TCGA: ENSG00000108556
COSMIC: CHRNE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108556ENST00000649488Q04844
ENSG00000108556ENST00000649830A0A3B3IRM1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
Acetylcholine Binding And Downstream EventsREACTOMER-HSA-181431
Activation of Nicotinic Acetylcholine ReceptorsREACTOMER-HSA-629602
Presynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-622323
Highly sodium permeable acetylcholine nicotinic receptorsREACTOMER-HSA-629587
Postsynaptic nicotinic acetylcholine receptorsREACTOMER-HSA-622327

References

Pubmed IDYearTitleCitations
376467032023Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.0
376467032023Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.0
305429632019Clinical and genetic characterization of an Italian family with slow-channel syndrome.5
305429632019Clinical and genetic characterization of an Italian family with slow-channel syndrome.5
293674592018Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit.5
293835132018A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.8
293674592018Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit.5
293835132018A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.8
280248422017Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.17
280248422017Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.17
273752192016Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating.12
273752192016Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating.12
221786252012A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation.6
221786252012A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation.6
211506432011Congenital 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/tumors-explorer/css/css/template-nav.css