Entity Details

Primary name CHRNE
Entity type gene
Source Source Link

Details

PrimaryID1145
RefseqGeneNG_008029
SymbolCHRNE
Namecholinergic receptor nicotinic epsilon subunit
Chromosome17
Location17p13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-05-14
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsACHE_HUMAN

GO terms

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GOName
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005892 acetylcholine-gated channel complex
GO:0006936 muscle contraction
GO:0007165 signal transduction
GO:0007268 chemical synaptic transmission
GO:0007271 synaptic transmission, cholinergic
GO:0008324 cation transmembrane transporter activity
GO:0015464 acetylcholine receptor activity
GO:0022848 acetylcholine-gated cation-selective channel activity
GO:0030594 neurotransmitter receptor activity
GO:0031594 neuromuscular junction
GO:0034220 ion transmembrane transport
GO:0042391 regulation of membrane potential
GO:0043005 neuron projection
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:0050877 nervous system process
GO:1904315 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential

Diseases

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Disease IDSourceNameDescription
616324 OMIMMyasthenic syndrome, congenital, 4B, fast-channel (CMS4B)A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS4B is a fast-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in brief opening and activity of the channel, with a rapid decay in endplate current, failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. The disease is caused by variants affecting the gene represented in this entry.
608931 OMIMMyasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CMS4C)A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS4C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. The disease is caused by variants affecting the gene represented in this entry.
605809 OMIMMyasthenic syndrome, congenital, 4A, slow-channel (CMS4A)A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS4A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
CHRNECHRNA1BioGRID, HPRD1712080 details
CHRNERBM3BioGRID26472337 details