CHRNE - cholinergic receptor nicotinic epsilon subunit Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1145

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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IDA IDA: Inferred from direct assay	7531341	GOA
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IMP IMP: Inferred from mutant phenotype	7531341	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
is active in neuromuscular junction	IDA IDA: Inferred from direct assay	7531341	GOA
is active in neuromuscular junction	IMP IMP: Inferred from mutant phenotype	7531341	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

CHRNE Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P84484	CHRNE Antibody (YA4181)	WB, FC, ELISA	Human, Rat
HY-P84484A	CHRNE Antibody (YA4181)(PBS only)	WB, FC, ELISA	Human, Rat

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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS02679	CHRNE Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	CHRNE	NCBI