CHRNE cholinergic receptor, nicotinic, epsilon (muscle) [Homo sapiens] - Gene

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Summary

Official Symbol: CHRNEprovided by HGNC
Official Full Name: cholinergic receptor, nicotinic, epsilon (muscle)provided by HGNC
Primary source: HGNC:1966
See related: Ensembl:ENSG00000108556; HPRD:00008; MIM:100725; Vega:OTTHUMG00000090778
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ACHRE; CMS1D; CMS1E; CMS2A; FCCMS; SCCMS
Summary: Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009]

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Genomic context

Location :: 17p13.2

Sequence :: Chromosome: 17; NC_000017.10 (4801064..4806369, complement)

See CHRNE in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Three siblings have a clinical history and examination findings typical of homozygous CHRNE mutations; clinical presentation of congenital myasthenia subtypes is variable, and accurate genotyping is essential in choosing appropriate treatment.
Title: Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.
Targeting nAChR could offer a strategy for reducing neurodegeneration secondary to hyperphosphorylation of protein tau.
Title: Neurotoxicity induced by okadaic acid in the human neuroblastoma SH-SY5Y line can be differentially prevented by α7 and β2* nicotinic stimulation.
The mutations in the varepsilon subunit altered Ca(2+) permeability of AChR-channels, with varepsilon(L269F) increasing P(f) and varepsilon(I257F) decreasing it.
Title: Modulation of the Ca(2+) permeability of human endplate acetylcholine receptor-channel.
analysis of symmetry at the extracellular domain-transmembrane domain interface in acetylcholine receptor channel gating
Title: Subunit symmetry at the extracellular domain-transmembrane domain interface in acetylcholine receptor channel gating.
We have identified mutations within the acetylcholine receptor (AChR) epsilon-subunit gene underlying congenital myasthenic syndromes in nine patients (seven kinships) of Dutch origin.
Title: AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.
These results strongly support the hypothesis that epsilon1293insG mutations in a myasthenic syndrome derives from an ancient single founder event in the North African population.
Title: The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.
The greater abundance of mRNA for AChR epsilon-subunit than for other subunits suggests that the AChR epsilon-subunit may play a distinctive role in autosensitization in MG-associated thymomas, particularly those of type A or AB.
Title: Preferential expression of AChR epsilon-subunit in thymomas from patients with myasthenia gravis.
Observational study of gene-disease association. (HuGE Navigator)
Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
two binding sites differ by roughly 10-fold in the affinity of the shut receptor for ACh in the wild type, and that in the epsilonL221F mutation the lower affinity is increased so the sites become more similar.
Title: Properties of the human muscle nicotinic receptor, and of the slow-channel myasthenic syndrome mutant epsilonL221F, inferred from maximum likelihood fits.
This is the first synonymous mutation in CHRNE known to generate a cryptic splice site, and mRNA quantification strongly suggests that it is the disease-causing mutation.
Title: A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome.

Submit: New GeneRIF Correction See all (18)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency

MIM: 608931

Myasthenic syndrome, fast-channel congenital

MIM: 608930

Myasthenic syndrome, slow-channel congenital

MIM: 601462

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
Q04844	P02708	CHRNA1		HPRD	PubMed
BioGRID:107567	BioGRID:107556	CHRNA1		BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
acetylcholine receptor activity	TAS Traceable Author Statement more info	PubMed
acetylcholine-activated cation-selective channel activity	IEA Inferred from Electronic Annotation more info
cation transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
extracellular ligand-gated ion channel activity	IEA Inferred from Electronic Annotation more info
ion channel activity	IEA Inferred from Electronic Annotation more info
receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cation transport	TAS Traceable Author Statement more info	PubMed
muscle contraction	TAS Traceable Author Statement more info	PubMed
regulation of membrane potential	IEA Inferred from Electronic Annotation more info
signal transduction	TAS Traceable Author Statement more info	PubMed
synaptic transmission	TAS Traceable Author Statement more info
synaptic transmission, cholinergic	TAS Traceable Author Statement more info	PubMed
transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
acetylcholine-gated channel complex	IEA Inferred from Electronic Annotation more info
cell junction	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
postsynaptic membrane	IEA Inferred from Electronic Annotation more info
synapse	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: acetylcholine receptor subunit epsilon

Names: acetylcholine receptor subunit epsilon; AchR epsilon subunit; acetylcholine receptor, nicotinic, epsilon (muscle); cholinergic receptor, nicotinic, epsilon polypeptide

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008029.2 RefSeqGene

Range

5002..10307

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000080.3 → NP_000071.1 acetylcholine receptor subunit epsilon precursor

Status: REVIEWED

Source sequence(s)

AC233723, X66403

Consensus CDS

CCDS11058.1

UniProtKB/Swiss-Prot

Q04844

Related

ENSP00000293780, OTTHUMP00000216307, ENST00000293780, OTTHUMT00000207560

Conserved Domains (2) summary

pfam02931
Location:24 – 240
Blast Score: 649

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:247 – 474
Blast Score: 503

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p5 Primary Assembly

Range

4801064..4806369, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

4689154..4694504, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB070507.1	BAB97270.1
genomic	AC109333.28 (113140..118448)	None
genomic	AC233723.2 (32596..37901)	None
genomic	AF105999.1	AAD24503.1
genomic	CH471108.2	EAW90394.1
		EAW90395.1
		EAW90396.1
mRNA	AI041890.1	None
mRNA	X66403.1	CAA47030.1
other-genetic	BC156077.1	AAI56078.1
other-genetic	BC157043.1	AAI57044.1