CHRNE - cholinergic receptor nicotinic epsilon subunit Gene

Homo sapiens

Also known as ACHRE; CMS1D; CMS1E; CMS2A; CMS4A; CMS4B; CMS4C; FCCMS; SCCMS

Gene ID: 1145 | Gene type: protein coding

About CHRNE

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:4,897,771-4,908,677 (from NCBI)

This gene has 5 transcripts (splice variants), 178 orthologues, 45 paralogues and is associated with 4 phenotypes. Broad expression in heart (RPKM 15.8), skin (RPKM 3.3) and 20 other tissues.

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]

CHRNE Products(1)

mRNA	Protein	Name
NM_000080.4	NP_000071.1	acetylcholine receptor subunit epsilon precursor

CHRNE Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
493 a.a.

Protein Preferred Names

Protein Names

acetylcholine receptor subunit epsilon

AchR epsilon subunit

Related Diseases

Diseases

Alias

Myasthenic Syndrome, Congenital, 4b, Fast-Channel

Congenital Myasthenic Syndrome 4b	CMS4B
Congenital Myasthenic Syndrome 4b Fast-Channel	Myasthenic Syndrome, Congenital, Type 4b, Fast-Channel

Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 4c	CMS4C
Cms Id	Cms1d
Congenital Myasthenic Syndrome Type Id	Fim1
Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency	Myasthenic Syndrome, Congenital, Type Id
Cms1d, Formerly	Cms Id, Formerly
Myasthenia, Familial Infantile, 1, Formerly	Fim1, Formerly
Congenital Myasthenic Syndrome 4c Associated With Acetylcholine Receptor Deficiency	Familial Infantile Myasthenia 1
Cms1e	Cms-Achrd
Cms Ie	Congenital Myasthenic Syndrome Post-Synaptic Associated With Acetylcholine Receptor Deficiency
Congenital Myasthenic Syndrome Type 1d	Congenital Myasthenic Syndrome Type 1e
Congenital Myasthenic Syndrome Type Ie	Congenital Myasthenic Syndrome With Facial Dysmorphism Associated With Acetylcholine Receptor Deficiency
Myasthenia, Familial Infantile, 1	Myasthenic Syndrome, Congenital, Type 4c, Associated With Acetylcholine Receptor Deficiency
Myasthenic Syndrome, Congenital, Ie

Myasthenic Syndrome, Congenital, 4a, Slow-Channel

CMS4A	Congenital Myasthenic Syndrome 4a
Cms Ia1	Cms1a1
Myasthenia, Familial Infantile, 1	Congenital Myasthenic Syndrome Type Ia1, Formerly
Cms1a1, Formerly	Cms Ia1, Formerly
Congenital Myasthenic Syndrome 4a Slow-Channel	Congenital Myasthenic Syndrometype Ia1
Congenital Myasthenic Syndrome Type Ia1	Myasthenic Syndrome, Congenital, Type 4a, Slow-Channel

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

Congenital Myasthenic Syndrome Associated With Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, 1b, Fast-Channel

CMS1B	Congenital Myasthenic Syndrome 1b
Myasthenic Syndrome, Congenital, Fast-Channel	Congenital Myasthenic Syndrome 1b, Fast-Channel
Fccms	Myasthenic Syndrome, Fast-Channel Congenital
Myasthenic Syndrome, Congenital, Type 1b, Fast-Channel	Congenital Myasthenic Syndrome Ib

Myasthenic Syndrome, Congenital, 2a, Slow-Channel

CMS2A	Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel
Myasthenic Syndrome, Congenital, Type Iia	Sccms
Myasthenic Syndrome, Slow-Channel Congenital	Slow-Channel Congenital Myasthenic Syndrome
Cms Iia	Myasthenic Syndrome, Congenital, Slow-Channel
Slow Channel Congenital Myasthenic Syndrome	Myasthenic Syndrome, Congenital, Type 2a, Slow-Channel
Myasthenic Syndromes, Congenital, Slow Channel

Postsynaptic Congenital Myasthenic Syndromes

Congenital Myasthenic Syndromes, Postsynaptic

Myasthenia Gravis

MG	Acquired Myasthenia
Autoimmune Myasthenia Gravis	Erb-Goldflam Disease
Mg - [Myasthenia Gravis]	Myasthenia Gravis Nos
Myasthenia

Neuromuscular Junction Disease

Neuromuscular Junction Diseases

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Brain Angioma

Brain Hemangioma

Epidermolysis Bullosa Simplex 5b, With Muscular Dystrophy

Epidermolysis Bullosa Simplex With Muscular Dystrophy	Md-Ebs
Epidermolysis Bullosa Simplex And Limb-Girdle Muscular Dystrophy	EBS5B
Ebsmd	Mdebs
Limb-Girdle Muscular Dystrophy With Epidermolysis Bullosa Simplex	Ebs-Md
Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy	Epidermolysa Bullosa Simplex With Muscular Dystrophy
Epidermolysis Bullosa Simplex - Limb Girdle Muscular Dystrophy	Ebs With Muscular Dystrophy
Muscular Dystrophy With Epidermolysis Bullosa Simplex	Epidermolysa Bullosa Simplex, With Muscular Dystrophy

Myasthenic Syndrome, Congenital, 5

Endplate Acetylcholinesterase Deficiency	Congenital Myasthenic Syndrome 5
CMS5	Ead
Engel Congenital Myasthenic Syndrome	Myasthenic Syndrome, Congenital, Engel Type
Cms Ic	Congenital Myasthenic Syndrome Type Ic
Congenital Myasthenic Syndrome Type Ic, Formerly	Cms1c, Formerly
Cms Ic, Formerly	Congenital Myasthenic Syndrome Engel Type
End Plate Acetylcholinesterase Deficiency	Synaptic Congenital Myasthenic Syndromes
Cms1c	Cmse
Congenital Myasthenic Syndrome Type 1c	End-Plate Acetylcholinesterase Deficiency
Myasthenic Syndrome, Congenital, Type 5

Myasthenic Syndrome, Congenital, 13

Congenital Myasthenic Syndrome 13	CMS13
Cmsta2	Myasthenic Syndrome, Congenital, With Tubular Aggregates 2
Myasthenic Syndrome, Congenital, 13, With Tubular Aggregates	Congenital Myasthenic Syndrome 13 With Tubular Aggregates
Congenital Myasthenic Syndrome With Tubular Aggregates 2	Myasthenic Syndrome, Congenital, With Tubular Aggregates, 2
Myasthenic Syndrome, Congenital, With Tubular Aggregates, Type 2

Desmoid Disease, Hereditary

Fif	DESMD
Hereditary Desmoid Disease	Familial Infiltrative Fibromatosis
Fibromatosis, Familial Infiltrative	Fibromatosis, Aggressive

Myasthenic Syndrome, Congenital, 6, Presynaptic

Familial Infantile Myasthenia	CMS6
Cmsea	Congenital Myasthenic Syndrome 6
Familial Infantile Myasthenia Gravis 2	Fimg2
Myasthenic Syndrome, Congenital, Associated With Episodic Apnea	Myasthenic Syndrome, Presynaptic, Congenital, Associated With Episodic Apnea
Congenital Myasthenic Syndrome Type Ia2, Formerly	Cms1a2, Formerly
Cms Ia2, Formerly	Myasthenia, Familial Infantile, Formerly
Fim, Formerly	Myasthenia Gravis, Familial Infantile, 2, Formerly
Fimg2, Formerly	Cms Ia2
Cms1a2	Congenital Myasthenic Syndrome 6, Presynaptic
Congenital Myasthenic Syndrome Type Ia2	Congenital Presynaptic Myasthenic Syndrome Associated With Episodic Apnea
Fim	Cms1a
Cms-Ea	Cms Ia
Congenital Myasthenic Syndrome Pre-Synaptic Associated With Episodic Apnea	Congenital Myasthenic Syndrome Type 1a
Congenital Myasthenic Syndrome Type Ia	Myasthenic Syndrome, Congenital, Type 6, Presynaptic

Myasthenic Syndrome, Congenital, 14

Congenital Myasthenic Syndrome 14	CMS14
Cmsta3	Myasthenic Syndrome, Congenital, With Tubular Aggregates 3
Myasthenic Syndrome, Congenital, 14, With Tubular Aggregates	Congenital Myasthenic Syndrome 14, With Tubular Aggregates
Congenital Myasthenic Syndrome With Tubular Aggregates 3	Myasthenic Syndrome, Congenital, With Tubular Aggregates, 3
Myasthenic Syndrome, Congenital, Type 14, With Tubular Aggregates

Paramyotonia Congenita Of Von Eulenburg

Paramyotonia Congenita	PMC
Paralysis Periodica Paramyotonica	Eulenburg Disease
Myotonia Congenita Intermittens	Von Eulenburg Paramyotonia Congenita
Paralysis Periodica Paramyotonia	Von Eulenberg'S Disease
Paramyotonia Congenita Without Cold Paralysis	Eulenburg Syndrome
Paramyotonia

Cenani-Lenz Syndactyly Syndrome

Syndactyly Type 7	Cenani Syndactylism
Cenani-Lenz Syndactyly	CLSS
Syndactyly Cenani Lenz Type	Cenani-Lenz Syndrome
Syndactyly, Type Vii	Cenani-Lenz Type Syndactyly
Cenani Syndactyly	Syndactyly Type Vii

Hyperkalemic Periodic Paralysis

HYPP	Gamstorp Disease
Gamstorp Episodic Adynamy	Adynamia Episodica Hereditaria With Or Without Myotonia
Familial Hyperkalemic Periodic Paralysis	Hyperkpp
Hyperpp	Adynamia Episodica Hereditaria
Primary Hyperkalemic Periodic Paralysis	Hyperkalemic Periodic Paralysis, Type 2
Sodium Channel Muscle Disease	Familial Hyperpp
Hyperkalemic Pp	Primary Hyperpp
Periodic Paralysis Hyperkalemic	Periodic Paralysis Normokalemic
NKPP	Periodic Paralysis Eukalemic
Paralysis, Hyperkalemic Periodic	Paralysis, Periodic, Hyperkalemic
Potassium Aggravated Myotonia

Ocular Motility Disease

Ocular Motility Disorders	Abnormality Of Eye Movement
Disorder Of Eye Movements	Eye Movement Disorder
Eye Movement Disorders

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02679	CHRNE Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CHRNE	VGNC	VGNC:27335
Felis catus	CHRNE	VGNC	VGNC:98882
Rattus norvegicus	CHRNE	RGD	RGD:2353
Canis familiaris	CHRNE	VGNC	VGNC:39247
Macaca mulatta	CHRNE	VGNC	VGNC:71053
Mus musculus	CHRNE	MGD	MGI:87894

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