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FLASH GENE

Symbol

CHRNA3

contributors: mct - updated : 28-01-2020

HGNC name	cholinergic receptor, nicotinic, alpha polypeptide 3
HGNC id	1957

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CAKUTAD congenital anomalies of the kidney and urinary tract and autonomic dysfunction
Location	15q25.1      Physical location : 78.885.396 - 78.913.637
Synonym name	neuronal nicotinic acetylcholine receptor, alpha3 subunit
Synonym symbol(s)	BAIPRCK, LNCR2, NACHRA3, PAOD2, MGC104879

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	CHRNA5-CHRNA3-CHRNB4 gene cluster
STRUCTURE	27.94 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001166694 6 - 1731 NP_001160166 - 489 - 2007 1734421 NM_000743 6 - 3015 NP_000734 - 505 - 2007 1734421

EXPRESSION

Type

widely

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 intestine small intestine     lowly Lymphoid/Immune thymus       highly Nervous nerve       highly   nerve cranial nerve     highly Urinary bladder         Homo sapiens Visual eye       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining uroepithelium   highly Homo sapiens 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

conjugated

GlycoP

HOMOLOGY

interspecies	homolog to rattus Chrna3
	homolog to murine Chrna3

Homologene

FAMILY	cholinergic receptor family
	ligand gated ion channel family

CATEGORY

receptor membrane

SUBCELLULAR LOCALIZATION	plasma membrane
text	postsynaptic membrane

basic FUNCTION	nicotinic acetylcholine-activated cation-selective channel activity
	regulating keratinocyte chemokinesis and chemotaxis, respectively, and signaling pathways mediating these functions, having clinical implications for wound healing and control of cancer metastases
	involved in susceptibility to alcohol dependence (Joslyn 2009)
	mediates fast synaptic transmission in the autonomic ganglia

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

Other

regulated by PHOX2A (regulates the promoter)

ASSOCIATED DISORDERS

corresponding disease(s)

CAKUTAD

Susceptibility

to lung cancer to alcohol dependance (Gelernter 2009) to chronic obstructive pulmonary disease (COPD) to nicotine dependence severity (NDS)

Variant & Polymorphism SNP	rs1051730
	rs578776 and rs938682 were significantly associated with the susceptibility of lung cancer
	in ever-smokers, the CHRNA3 rs1051730 genotype associated with reduced lung function and increased COPD severity
	rs660652[G] was significantly associated with nicotine dependence severity

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

ANIMAL & CELL MODELS