CHRNA4 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
CHRNA4
Official Name
cholinergic receptor nicotinic alpha 4 subunit [Source:HGNC Symbol;Acc:HGNC:1958]
Ensembl ID
ENSG00000101204
Bio databases IDs NCBI: 1137 Ensembl: ENSG00000101204
Aliases cholinergic receptor nicotinic alpha 4 subunit, acetylcholine receptor, nicotinic, alpha 4 (neuronal)
Synonyms Acra-4, alpha4 ACHR, alpha-4NACHR, alpha4* nAChR, BFNC, cholinergic receptor, nicotinic, alpha 4 (neuronal), cholinergic receptor nicotinic alpha 4 subunit, cholinergic receptor, nicotinic, alpha polypeptide 4, cholinergic receptor, nicotinic, α 4 (neuronal), cholinergic receptor nicotinic α 4 subunit, cholinergic receptor, nicotinic, α polypeptide 4, EBN, EBN1, ENFL1, NACHR, NACHRA4, nAChR α-4, NACRA4, NARAC, α-4NACHR
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CHRNA4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • excitatory extracellular ligand-gated ion channel
  • M2 domain
  • intracellular loop
  • channel/pore class transporter
  • extracellular ligand-gated ion channel
  • Cation transporter family protein
  • protein binding
  • ion channel
  • acetylcholine receptor
  • neurotransmitter receptor
  • binding protein
  • LGIC_ECD
  • Neurotransmitter-gated ion-channel transmembrane region
  • Neurotransmitter-gated ion-channel ligand binding domain
  • transmembrane domain
  • ligand-gated ion channel
  • acetylcholine binding
  • transmembrane receptor
  • cation channel

Pathways

Biological processes and signaling networks where the CHRNA4 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
disease
  • pain
  • coronary disease
  • HIV infection
  • psychosis
  • tobacco-related disorder
  • schizophrenia
  • bipolar disorder
  • major depression
  • hemodynamic instability
  • schizoaffective disorder
regulated by
regulates
role in cell
  • activation in
  • transmembrane potential
  • phosphorylation in
  • activation
  • firing
  • fragmentation
  • action potential
  • activity
  • depolarization
  • synaptic transmission

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cell surface
  • cellular membrane
  • microtubules
  • cytoplasmic matrix
  • cytosol
  • plasma membrane extracellular face
  • presynaptic membrane
  • synaptic membrane
  • synapse
  • rough endoplasmatic reticulum
  • perikaryon
  • dendrites
  • postsynaptic density
  • axon terminals

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CHRNA4 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of dopamine secretion
  • DNA repair
  • synaptic transmission, cholinergic
  • regulation of excitatory postsynaptic membrane potential
  • behavioral response to nicotine
  • signal transduction
  • ion transmembrane transport
  • synaptic transmission
  • B cell activation
  • response to nicotine
  • response to oxidative stress
  • ion transport
  • regulation of membrane potential
  • response to hypoxia
  • cognition
  • calcium ion transport
  • regulation of inhibitory postsynaptic membrane potential
  • sensory perception of pain
  • regulation of action potential
  • membrane depolarization
  • neurological system process

Cellular Component

Where in the cell the gene product is active
  • dendrite
  • postsynaptic membrane
  • membrane
  • external side of plasma membrane
  • synapse
  • acetylcholine-gated channel complex
  • neuronal cell body
  • neuron projection
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • acetylcholine receptor activity
  • ligand-gated ion channel activity
  • acetylcholine-gated cation channel activity
  • acetylcholine binding

Gene-Specific Assays for Results You Can Trust

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