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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CHRNE Gene

protein-coding GIFtS: 65
GCID: GC17M004801

cholinergic receptor, nicotinic, epsilon (muscle)

(Previous names: cholinergic receptor, nicotinic, epsilon )

Explore 13 diseases affiliated with
CHRNE via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cholinergic Receptor, Nicotinic, Epsilon (Muscle)¹ ²		SCCMS² ⁵
ACHRE¹ ² ³		Cholinergic Receptor, Nicotinic, Epsilon¹
CMS1D² ⁵		Acetylcholine Receptor Subunit Epsilon²
CMS1E² ⁵		Acetylcholine Receptor, Nicotinic, Epsilon (Muscle)²
CMS2A² ⁵		AchR Epsilon Subunit²
FCCMS² ⁵		Cholinergic Receptor, Nicotinic, Epsilon Polypeptide²

External Ids:	HGNC: 1966¹	Entrez Gene: 1145²	Ensembl: ENSG00000108556⁷	OMIM: 100725⁵	UniProtKB: Q04844³

Export aliases for CHRNE gene to outside databases

Previous GC identifers: GC17M005220 GC17M004745 GC17M005001 GC17M004741 GC17M004689

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CHRNE:

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)

UniProtKB/Swiss-Prot: ACHE_HUMAN, Q04844

Function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all

subunits and leads to opening of an ion-conducting channel across the plasma membrane

summary for CHRNE:

Nicotinic receptors (nAChRs) are ligand-gated ion channels that modulate cell membrane potentials. Each

receptor is composed of pentameric combinations of subunits (alpha1-10, beta1-4, delta, epsilon and gamma).

Nicotinic receptors are generally divided into three functional classes: muscle subunits (alpha1, beta1,

delta, epsilon, gamma), standard neuronal subunits (alpha1-6 and beta2-4) that form in pairwise alphabeta

combinations, and subunits (alpha7-9) that can form homomeric nAChRs. Neuronal nicotinic receptors are found

in the central nervous system and in autonomic ganglia where they regulate processes such as transmitter

release, cell excitability and neuronal integration. Nicotinic receptors located at the neuromuscular

junctions of somatic muscles are responsible for muscular contraction.

Gene Wiki entry for CHRNE

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010718.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CHRNE gene promoter:
MAZR RREB-1 ATF-2 RelA NF-kappaB RORalpha1 MZF-1 Pax-3 c-Jun NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CHRNE promoter sequence

Search SABiosciences Chromatin IP Primers for CHRNE

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHRNE

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.2 Ensembl cytogenetic band: 17p13.2 HGNC cytogenetic band: 17p13.2

CHRNE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHRNE gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M004801: view genomic region (about GC identifiers)

Start:	4,801,064 bp from pter	End:	4,806,369 bp from pter
Size:	5,306 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ACHE_HUMAN, Q04844 (See protein sequence)

Recommended Name: Acetylcholine receptor subunit epsilon precursor

Size: 493 amino acids; 54697 Da

Subunit: Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in

mature muscle) chains

Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane;

Multi-pass membrane protein

1 PDB 3D structure from and Proteopedia for CHRNE:

2DF9 (3D)

Secondary accessions: D3DTK6

Explore the universe of human proteins at neXtProt for CHRNE: NX_Q04844

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q04844

CHRNE Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000071.1

ENSEMBL proteins:

ENSP00000293780

Reactome Protein details: Q04844
Human Recombinant Protein Products:

	EMD Millipore Purified and/or Recombinant CHRNE Protein
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	Browse Proteins at Uscn

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	8872460
GO:0005892	acetylcholine-gated channel complex	TAS	7531341
GO:0030054	cell junction	IEA	--
GO:0045211	postsynaptic membrane	IEA	--

CHRNE for ontologies About GeneDecksing

CHRNE Antibody Products:

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	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CHRNE for domains About GeneDecksing

5 InterPro domains/families:

IPR002394 Nicotinic_acetylcholine_rcpt

IPR018000 Neurotransmitter_ion_chnl_CS

IPR006201 Neur_channel

IPR006202 Neur_chan_lig-bd

IPR006029 Neurotrans-gated_channel_TM

Graphical View of Domain Structure for InterPro Entry Q04844

ProtoNet protein and cluster: Q04844

2 Blocks protein families:

IPB002394 Nicotinic acetylcholine receptor signature

IPB006201 Neurotransmitter-gated ion-channel

UniProtKB/Swiss-Prot: ACHE_HUMAN, Q04844

Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily.

Epsilon/CHRNE sub-subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ACHE_HUMAN, Q04844

Function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all

subunits and leads to opening of an ion-conducting channel across the plasma membrane

Genatlas biochemistry entry for CHRNE:

cholinergic receptor,nicotinic,epsilon polypeptide,muscle

miRNA Products:		OriGene 3'-UTR Clone: CHRNE Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHRNE
		8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate CHRNE (see all 20):
		hsa-miR-142-3p hsa-miR-3194-5p hsa-miR-15a hsa-miR-4272 hsa-miR-4258 hsa-miR-4267 hsa-miR-424 hsa-miR-195

		SwitchGear 3'UTR luciferase reporter plasmid: CHRNE 3' UTR sequence

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		Search LifeMap BioReagents cell lines for CHRNE

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNE

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004889	acetylcholine-activated cation-selective channel activity	IEA	--
GO:0008324	cation transmembrane transporter activity	TAS	8872460
GO:0015464	acetylcholine receptor activity	TAS	8872460

CHRNE for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for CHRNE:

Increased Salmonella enterica

Animal Models:
Mouse knock-outs for CHRNE: Chrne^tm1Jrs Chrne^tm1Vwi Chrne^tm1Mtak
7 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Chrne):

behavior/neurological	growth/size	mortality/aging	muscle	nervous system
no phenotypic analysis	respiratory system

CHRNE for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Presynaptic nicotinic acetylcholine receptors

Presynaptic nicotinic acetylcholine receptors	1.00	Acetylcholine Binding And Downstream Events	0.86
Activation of Nicotinic Acetylcholine Receptors	0.86	Highly sodium permeable acetylcholine nicotinic receptors	0.58
Postsynaptic nicotinic acetylcholine receptors	0.86

Transmission across Chemical Synapses

	Transmission across Chemical Synapses	1.00			Neuronal System	0.67
	Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	0.72

Calcium channels

Calcium channels

1.00

CREB Pathway

Intracellular Calcium Signaling

0.50

Nanog in Mammalian ESC Pluripotency

eNOS Signaling

0.48

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for CHRNE

Calcium channels

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CHRNE

	eNOS Signaling
	Intracellular Calcium Signaling

1 BioSystems Pathway for CHRNE

ErbB2/ErbB3 signaling events

5/8 Reactome Pathways for CHRNE (see all 8)

	Activation of Nicotinic Acetylcholine Receptors
	Transmission across Chemical Synapses
	Acetylcholine Binding And Downstream Events
	Neuronal System
	Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell

1 Kegg Pathway (Kegg details for CHRNE):

Neuroactive ligand-receptor interaction

CHRNE for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CHRNE

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

5/16 Interacting proteins for CHRNE (Q04844³ ENSP00000293780⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 16)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CHRNA1	P02708³, ENSP00000261007⁴	I2D: score=2 STRING: ENSP00000261007
JUN	ENSP00000360266⁴	STRING: ENSP00000360266
CHRNA2	ENSP00000240132⁴	STRING: ENSP00000240132
CHRNA3	ENSP00000315602⁴	STRING: ENSP00000315602
CHRNA4	ENSP00000359285⁴	STRING: ENSP00000359285

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	TAS	8872460
GO:0006812	cation transport	TAS	8872460
GO:0006936	muscle contraction	TAS	8872460
GO:0007165	signal transduction	TAS	8872460
GO:0007268	synaptic transmission	TAS	--

CHRNE for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for CHRNE available from Tocris Bioscience About this table

Compound	Action	CAS #
Mecamylamine hydrochloride	Non-competitive nicotinic receptor antagonist	[826-39-1]
(�)-Epibatidine	Very potent nicotinic agonist	[140111-52-0]
(�)-Anatoxin A fumarate	Nicotinic agonist	[64285-06-9]

1 DrugBank Compound for CHRNE About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Galantamine	(-)-Galanthamine (see all 3)	357-70-0	target	allosteric modulator	12137632 11129124 12481195 20480924 12177686 10971048

Search CenterWatch for drugs/clinical trials and news about CHRNE / ACHE

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CHRNE gene:

NM_000080.3

Unigene Cluster for CHRNE:

Cholinergic receptor, nicotinic, epsilon (muscle)

Hs.654535 [show with all ESTs]

Unigene Representative Sequence: NM_000080

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000293780(uc002fzk.1) ENST00000572438 ENST00000575637

miRNA Products:		OriGene 3'-UTR Clone: CHRNE Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHRNE
		8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate CHRNE (see all 20):
		hsa-miR-142-3p hsa-miR-3194-5p hsa-miR-15a hsa-miR-4272 hsa-miR-4258 hsa-miR-4267 hsa-miR-424 hsa-miR-195

		SwitchGear 3'UTR luciferase reporter plasmid: CHRNE 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector: CHRNE (NM_000080)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHRNE

Additional cDNA sequence: X66403.1

1 DOTS entry:

DT.100794683

17 AceView cDNA sequences:

BU159645 X66403 NM_000080 BE250876 AI041890 BE252859 CB854271 AI185270

BF528767 BQ355013 BQ326952 AW368328 BF344696 BF806878 AW577593 BF738760

AA572853

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for CHRNE About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5a	·	5b	^	6	^	7	^	8	^	9
SP1:							-
SP2:
SP3:

ECgene alternative splicing isoforms for CHRNE

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CHRNE expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGGGAGCTG

About this image

CHRNE expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Skeletal Muscle

Extraocular Muscles

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

See CHRNE Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CHRNE

SOURCE GeneReport for Unigene cluster: Hs.654535

SABiosciences Expression via Pathway-Focused PCR Array including CHRNE:

Neurotransmitter Receptors in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNE

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CHRNE gene from 5/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	CHRNE⁶	--	53(a)	1 ↔ 1	GL344523.1(140-14889)
African clawed frog (Xenopus laevis)	Amphibia	LOC386670²	nicotinic acetylcholine receptor epsilon subunit precursor	72.54(n)		U19612.1
zebrafish (Danio rerio)	Actinopterygii	chrne⁶	cholinergic receptor, nicotinic, epsilon	52(a)	1 ↔ 1	5(40040556-40051539)
fruit fly (Drosophila melanogaster)	Insecta	nAcRbeta-64B⁶	nicotinic Acetylcholine Receptor beta 64B	28(a)	1 → many	3L(4429349-4435993)
worm (Caenorhabditis elegans)	Secernentea	lev-1⁶ acr-3⁶ (see all 4)	Acetylcholine receptor subunit beta-type acr-3 (see all 4)	27(a) 26(a) (see all 4)	many ↔ many many ↔ many (see all 4)	IV(13174147-13179359) X(6709499-6712887)

ENSEMBL Gene Tree for CHRNE (if available)
TreeFam Gene Tree for CHRNE (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CHRNE gene

CHRNA5² CHRNA2² CHRNA1² CHRNA6² CHRNA7² CHRNB4² CHRNA4² CHRNA10²

CHRNA9² CHRNB2² CHRNG² CHRNA3² CHRFAM7A² CHRNB1² CHRNB3² CHRND²

15 SIMAP similar genes for CHRNE using alignment to 2 protein entries: ACHE_HUMAN (see all proteins):

CHRNA4 CHRND CHRNB3 CHRNG CHRNA3 CHRNA6

CHRNA10 CHRNB2 CHRNB4 CHRNA1 CHRNA2 CHRNB1

CHRNA5 CHRNA9 CHRNA7

CHRNE for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28999110^1,2	C	pathogenic	4692501(-)	`AGCCGC/TTCTTC`	3	L F	ut3¹ mis¹		2		NA	4
rs121909516^1,2	C,F,	pathogenic	4693374(-)	`CTGTTC/G/TGCTTA`	5	S W L	ut3¹ mis¹		1		NA	4532
rs28929768^1,2	C	pathogenic	4693698(-)	`AACCCT/CGCGAG`	3	/P /L	ut3¹ mis¹ ese³		2		NA	4
rs56067981^1,2	C,F,	--	4690101(-)	`GCTGCC/TGCCAC`	2	--	us2k¹ ut3¹		5		MN NA CSA EA	296
rs56251503^1,2	F	--	4690543(-)	`TTCCCC/TGCCAG`	2	--	us2k¹ int¹		1		MN	26
rs76421344^1,2		--	4691280(+)	`CAAGGA/GCTGCA`	2	--	int¹		0	--	--	--	--
rs55735639^1,2		--	4692151(+)	`TTTCCC/TGGGGT`	2	--	ut3¹ int¹		0	--	--	--	--
rs113559784^1,2	C,	--	4693315(+)	`TAAGG-/CCCCCC`	2	--	ut3¹ int¹		1		CSA	2
rs72835061^1,2	C,F,	--	4693572(+)	`GAGTAC/ACCCCT`	2	--	ut3¹ int¹		5		NA CSA EA	246
rs2302315^1,2	C,F,	--	4694563(-)	`CCTCAC/TACAGG`	2	--	int¹ us2k¹		6		MN NA CSA WA EA	414

HapMap Linkage Disequilibrium report for CHRNE (4801064 - 4806369 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for CHRNE
2 CNVs: 4987 4986
Human Gene Mutation Database (HGMD): CHRNE

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CHRNE for disorders           About GeneDecksing

OMIM gene information: 100725
OMIM disorders: 601462  608930  608931
UniProtKB/Swiss-Prot: ACHE_HUMAN, Q04844

Note=The muscle AChR is the major target antigen in the autoimmune disease myasthenia gravis. Myasthenia

gravis is characterized by sporadic muscular fatigability and weakness, occurring chiefly in muscles innervated by

cranial nerves, and characteristically improved by cholinesterase-inhibiting drugs

Defects in CHRNE are a cause of congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]. SCCMS

is the most common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by 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. SCCMS is caused by kinetic abnormalities of the

AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes

Defects in CHRNE are a cause of congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]. FCCMS

is a congenital myasthenic syndrome characterized by kinetic abnormalities of the AChR. In most cases, FCCMS is due to

mutations that decrease activity of the AChR by slowing the rate of opening of the receptor channel, speeding the rate

of closure of the channel, or decreasing the number of openings of the channel during ACh occupancy. The result is

failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential

Defects in CHRNE are a cause of congenital myasthenic syndrome with acetylcholine receptor deficiency

(CMS-ACHRD) [MIM:608931]. CMS-ACHRD is a postsynaptic congenital myasthenic syndrome. Mutations underlying AChR

deficiency cause a 'loss of function' and show recessive inheritance

13 diseases for CHRNE: About MalaCards

congenital myasthenic syndrome myasthenic syndrome myasthenic syndrome, fast-channel congenital slow-channel congenital myasthenic syndrome

myasthenia gravis myasthenia squamous cell carcinoma ptosis

thymoma neuronitis hypotonia sinusitis

carcinoma

2 diseases from the University of Copenhagen DISEASES database for CHRNE:

Neuropathy Myopathy

1 Novoseek disease relationship for CHRNE gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
myasthenic syndromes congenital	90	1	16061559 (1)

GeneTests: CHRNE

Congenital Myasthenic Syndromes

Genetic Association Database (GAD): CHRNE
Human Genome Epidemiology (HuGE) Navigator: CHRNE (4 documents)

Export disorders for CHRNE gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CHRNE gene, integrated from 9 sources (see all 55):
(articles sorted by number of sources associating them with CHRNE)

Utopia: connect your pdf to the dynamic
world of online information

Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits. (PubMed id 7688301)^{1, 2, 3} Beeson D.M.W.... Newsom-Davis J. (1993)
Lack of association between acetylcholine receptor epsilon polymorphisms and early-onset myasthenia gravis. (PubMed id 14981744)^{1, 4} Bonifati D.M....Beeson D. (2004)
Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. (PubMed id 10962020)^{1, 2} Wang H.-L....Sine S.M. (2000)
Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. (PubMed id 9158150)^{1, 2} Ohno K.... Engel A.G. (1997)
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. (PubMed id 8872460)^{1, 2} Engel A.G....Sine S.M. (1996)
Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. (PubMed id 8755487)^{1, 2} Ohno K.... Engel A.G. (1996)
A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome. (PubMed id 7538206)^{1, 2} Gomez C.M. and Gammack J.T. (1995)
Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. (PubMed id 7531341)^{1, 2} Ohno K.... Engel A.G. (1995)
The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa. (PubMed id 19064877)^{1, 9} Richard P....Hantai D. (2008)
Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations. (PubMed id 11030414)^{1, 9} Sieb J.P....Steinlein O.K. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1145	HGNC: 1966	AceView: CHRNE	Ensembl:ENSG00000108556	euGenes: HUgn1145
ECgene: CHRNE	Kegg: 1145	H-InvDB: CHRNE

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CHRNE	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHRNE

Intellectual Property for CHRNE gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CHRNE gene:
Search GeneIP for patents involving CHRNE

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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cholinergic receptor, nicotinic, epsilon (muscle)

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CHRNE Gene

cholinergic receptor, nicotinic, epsilon (muscle)

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