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FLASH GENE

Symbol

CHRNA4

contributors: mct - updated : 18-09-2012

HGNC name	cholinergic receptor, nicotinic, alpha polypeptide 4
HGNC id	1958

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ENFL1 epilepsy, nocturnal frontal lobe, type 1
Location	20q13.33      Physical location : 61.974.664 - 61.992.695
Synonym name	neuronal nicotinic acetylcholine receptor alpha-4 subunit
Synonym symbol(s)	BFNC, EBN, EBN1, NACRA4, NACHR, NACHRA4

DNA

TYPE	functioning gene
STRUCTURE	18.09 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D20S24 - CHRNA4 - D20S20 - qter
Authors	Steinlein (94)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001256573 6 - 5474 NP_001243502 - 451 - 2009 19301390 NM_000744 6 - 5543 NP_000735 - 627 - 2009 19301390

EXPRESSION

Type	restricted

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 Digestive liver         Endocrine adrenal gland         Nervous brain diencephalon hypothalamus     Urinary kidney         Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

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

conjugated

GlycoP

mono polymer

heteromer , pentamer

HOMOLOGY

Homologene

FAMILY

cholinergic receptor family

CATEGORY

receptor membrane ligand ion channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

cholinergic receptor, nicotinic, ligand gated ion channel, mediating fast signal transmission at synapses

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

heteropentamer alpha 4(2), beta 2 (3subunits)

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ENFL1

Susceptibility

to nicotine addiction to attentional network deficits to sporadic amyotrophic lateral sclerosis

Variant & Polymorphism SNP , other	variations in CHRNA4 exon 5 associated with attentional network deficits
	missense variants are associated with sporadic amyotrophic lateral sclerosis
	rs1044396 affects attention and negative emotionality in normal adults

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS