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FLASH GENE

Symbol

CHRNA5

contributors: mct/npt - updated : 28-01-2020

HGNC name	cholinergic receptor, nicotinic, alpha 5
HGNC id	1959

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	15q25.1      Physical location : 78.857.861 - 78.887.610
Synonym name	neuronal nicotinic acetylcholine receptor, alpha5 subunit
	cholinergic receptor, nicotinic, alpha polypeptide 5
Synonym symbol(s)	LNCR2, NACHRA5

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	CHRNA5-CHRNA3-CHRNB4 gene cluster
STRUCTURE	28.55 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - D15S44 - D15S28 - CHRNA5 - D15S105 /D15S34 /D15S46 - D15S52 - D15S99 - D15S27 - D15S37 - qter
Authors	Donlon (92)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed CHRNA5 6 - 2468 52.9 468 - Elliott (1996)

EXPRESSION

Type

widely

constitutive of

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 stomach       highly Endocrine neuroendocrine pituitary     highly Urinary bladder       highly

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

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

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

HOMOLOGY

Homologene

FAMILY	cholinergic receptor family
	ligand gated ion channel family

CATEGORY

receptor , transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	after binding acetylcholine, responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane
	involved in susceptibility to alcohol dependence (Joslyn 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

composed of two different type of subunits: alpha and non-alpha

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to lung cancer to alcohol and nicotine use disorders to nicotine dependence and lung cancer (Spitz 2008) to chronic obstructive pulmonary disease (COPD)

Variant & Polymorphism SNP	rs8034191
	variants were associated with higher risks of lung cancer in lower smoking-exposed strata, and in individuals with a strong family history of lung or smoking-related cancers (Spitz 2008)

Candidate gene	for low penetrance, high-frequency lung cancer susceptiblity genes
Marker
Therapy target

ANIMAL & CELL MODELS