CHRNE cholinergic receptor nicotinic epsilon subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHRNEprovided by HGNC
Official Full Name: cholinergic receptor nicotinic epsilon subunitprovided by HGNC
Primary source: HGNC:HGNC:1966
See related: Ensembl:ENSG00000108556 MIM:100725; AllianceGenome:HGNC:1966
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: MGI; FIM1; FIMG; ACHRE; CMS1D; CMS1E; CMS2A; CMS4A; CMS4B; CMS4C; FCCMS; FIMG1; SCCMS; CMS1A1
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]
Expression: Broad expression in heart (RPKM 15.8), skin (RPKM 3.3) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (4897771..4908677, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (4788020..4798918, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (4801066..4806393, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.
Title: Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.
Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.
Title: Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.
Study identified 2 potentially novel homozygous mutations in the AChR epsilon-subunit, epsilonR218W at a position equivalent to alphaR209, and E184K at a position equivalent to alphaE175, in 3 unrelated congenital myasthenic patients.
Title: Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit.
This study report a family with progressive proximal and distal weakness in which an accurate electrophysiological and CHRNE mutation led to a final diagnosis of congenital myasthenic syndromes.
Title: Clinical and genetic characterization of an Italian family with slow-channel syndrome.
Study found a pretest probability of CHRNE c.130dupG mutation of 31.9% in at least one allele of CMS patients, and when considering only homozygous patients the percentage is still high (26.4%); percentages notably increase ifonly patients with impaired eye movement and improvement of symptoms with pyridostigmine are considered.
Title: A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.
Specific mutations in COLQ, RAPSN, and CHRNE occur in specific ethnic populations in Israel and should be taken into account when the diagnosis of congenital myasthenic syndrome is suspected..
Title: Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.
Study traced the cause of congenital myasthenia syndrome in unrelated patients with dominant missense mutations in the M2 domain of AChR. A valine residue is replaced by a smaller alanine either in the epsilon subunit or an equivalent position in the beta one. Also, each valine in the valine ring was found to contribute to channel kinetics equally, and the valine ring has bee optimized during evolution to govern channe...
Title: Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating.
mutational analysis of CHRNE revealed a homozygous 1293insG, which is a well-known low-expressor receptor mutation in patients with epidermolysis bullosa simplex and congenital myasthenic syndrome.
Title: Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.
This study provied that new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR epsilonL221F mutation.
Title: A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation.
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.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital myasthenic syndrome 4A MedGen: C4225413 OMIM: 605809 GeneReviews: Congenital Myasthenic Syndromes Overview	Compare labs
Congenital myasthenic syndrome 4B MedGen: C4225369 OMIM: 616324 GeneReviews: Congenital Myasthenic Syndromes Overview	Compare labs
Congenital myasthenic syndrome 4C MedGen: C1837091 OMIM: 608931 GeneReviews: Congenital Myasthenic Syndromes Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481099

CHRNE (e-PCR)
- UniSTS:510364

WI-19144 (e-PCR)
- UniSTS:58046

SHGC-11989 (e-PCR)
- UniSTS:28629

RH76075 (e-PCR)
- UniSTS:83674

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acetylcholine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetylcholine-gated monoatomic cation-selective channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables monoatomic cation transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IDA Inferred from Direct Assay more info	PubMed
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in acetylcholine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
involved_in membrane depolarization	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic cation transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in synaptic transmission, cholinergic	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of acetylcholine-gated channel complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: acetylcholine receptor subunit epsilon

Names: AchR epsilon subunit; acetylcholine receptor, nicotinic, epsilon (muscle); cholinergic receptor, nicotinic epsilon; cholinergic receptor, nicotinic, epsilon (muscle); cholinergic receptor, nicotinic, epsilon polypeptide; myasthenia gravis, familial infantile, 1

NCBI Reference Sequences (RefSeq)

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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

4978..10305

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1254

mRNA and Protein(s)

NM_000080.4 → NP_000071.1 acetylcholine receptor subunit epsilon precursor

See identical proteins and their annotated locations for NP_000071.1

Status: REVIEWED

Source sequence(s)

AC233723, X66403

Consensus CDS

CCDS11058.1

UniProtKB/Swiss-Prot

D3DTK6, Q04844

Related

ENSP00000497829.1, ENST00000649488.2

Conserved Domains (3) summary

TIGR00860
Location:21 → 475

LIC; Cation transporter family protein

pfam02931
Location:24 → 240

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:247 → 474

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region