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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

Corresponding disease	ENFL3 epilepsy, nocturnal frontal lobe, type 3
Location	1q21.3      Physical location : 154.540.256 - 154.552.351
Synonym name	cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)
Synonym symbol(s)	ENFL3, nAChRB2

DNA

TYPE	functioning gene
STRUCTURE	12.10 kb     6 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - FLG - IVL ,LOR - CHRNB2 - qter
Authors	Lueders (99)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000748 6 - 5731 NP_000739 - 502 - -

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)