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FLASH GENE

Symbol

CHRNE

contributors: mct - updated : 12-01-2016

HGNC name	cholinergic receptor, nicotinic, epsilon
HGNC id	1966

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMS4A congenital myasthenic syndrome, type IV A
Location	17p13.2      Physical location : 4.801.063 - 4.806.369
Synonym name	acetylcholine receptor protein, epsilon chain precursor
	cholinergic receptor, nicotinic, epsilon polypeptide
Synonym symbol(s)	ACHRE, FCCMS, SCCMS

DNA

TYPE	functioning gene
STRUCTURE	5.36 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

provisional

Map	pter - D17S5 - CHRNE - D17S31 - CHRNB1 - TP53 - D17S122 - D17S71 - cen
Authors	Lobos (93)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000080 12 - 2460 NP_000071 - 493 - 2003 14532324

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Nervous brain

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid         Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune lymphocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	umbilical cord

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a large N terminal extracellular domain
	four transmembrane segments (4TM) with the M2 domain comprising the cation-selective pore

mono polymer

pentamer

HOMOLOGY

interspecies

homolog to murine Chrne

Homologene

FAMILY	cholinergic receptor family
	ligand gated ion channel family

CATEGORY

receptor membrane

SUBCELLULAR LOCALIZATION	plasma membrane,junction
	intracellular
	intracellular,cytoplasm

basic FUNCTION	cholinergic receptor, nicotinic
	mediating synaptic transmission at the neuromuscular junction
	after binding acetylcholine, involved in opening of an ion-conducting channel across the plasma membrane (through an extensive change in conformation that affects all subunits)
	during muscle cell determination and differentiation, specific histone modifications are targeted to the CHRNE subunit locus
	plays likely a crucial role in controlling Ca(2+) permeability of endplate AChR-channel

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

neurotransmission

a component

pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains

INTERACTION

DNA

RNA

small molecule

protein

during muscle cell determination and differentiation, histone modifications were targeted to the CHRNE subunit locus in a series of distinct steps to achieve a histone modification pattern that could promote transcriptional activation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMS4A

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS