CHRNA4

This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

Description

Cholinergic receptor nicotinic alpha 4 subunit

Tissue specificity

Tissue enhanced (brain, liver, parathyroid gland)

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Kim et al 2014)
Transporters

Chromosome

20 (63343223 - 63378401)

Ensembl ID

ENSG00000101204  (ver. 103.38)

Orthologs

Mouse Chrna4: ENSMUSG00000027577

UniProt

P43681

neXtProt

NX_P43681

Human splice variants
Mouse splice variants

Protein structure