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FLASH GENE

Symbol

CHRNB2

contributors: npt/ - updated : 05-03-2007

HGNC name	cholinergic receptor, nicotinic, beta 2 (neuronal)
HGNC id	1962

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

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 Nervous brain           nerve

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
	four transmembrane segments (4TM) with the M2 domain comprising the cation-selective pore
	25 AA signal peptide

mono polymer

heteromer , pentamer

HOMOLOGY

interspecies

ortholog to murine Chrnb2

Homologene

FAMILY	cholinergic receptor family
	ligand gated ion channel family

CATEGORY

receptor , transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

having nicotinic acetylcholine-activated cation-selective channel activity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

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

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ENFL3

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

ADNFLE mouse model harboring the V287L missense mutation of the CHRNB2 subunit (Manfredi 2009)