• Gene id: 1137

Gene Summary

• Gene Symbol: CHRNA4   Gene   UCSC   Ensembl
• Aliases: BFNC, EBN, EBN1, NACHR, NACHRA4, NACRA4
• Gene name: cholinergic receptor nicotinic alpha 4 subunit
• Alternate names: neuronal acetylcholine receptor subunit alpha-4, cholinergic receptor, nicotinic alpha 4, cholinergic receptor, nicotinic, alpha 4 (neuronal), cholinergic receptor, nicotinic, alpha polypeptide 4, neuronal nicotinic acetylcholine receptor alpha-4 subunit,
• Gene location: 20q13.33 (63375470: 63343222)     Exons: 10     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 613141

Protein Summary

• Protein general information: P43681  
  • Name: Neuronal acetylcholine receptor subunit alpha 4
  • Length: 627  
  • Mass: 69957
• Sequence:

  MELGGPGAPRLLPPLLLLLGTGLLRASSHVETRAHAEERLLKKLFSGYNKWSRPVANISDVVLVRFGLSIAQLID
  VDEKNQMMTTNVWVKQEWHDYKLRWDPADYENVTSIRIPSELIWRPDIVLYNNADGDFAVTHLTKAHLFHDGRVQ
  WTPPAIYKSSCSIDVTFFPFDQQNCTMKFGSWTYDKAKIDLVNMHSRVDQLDFWESGEWVIVDAVGTYNTRKYEC
  CAEIYPDITYAFVIRRLPLFYTINLIIPCLLISCLTVLVFYLPSECGEKITLCISVLLSLTVFLLLITEIIPSTS
  LVIPLIGEYLLFTMIFVTLSIVITVFVLNVHHRSPRTHTMPTWVRRVFLDIVPRLLLMKRPSVVKDNCRRLIESM
  HKMASAPRFWPEPEGEPPATSGTQSLHPPSPSFCVPLDVPAEPGPSCKSPSDQLPPQQPLEAEKASPHPSPGPCR
  PPHGTQAPGLAKARSLSVQHMSSPGEAVEGGVRCRSRSIQYCVPRDDAAPEADGQAAGALASRNTHSAELPPPDQ
  PSPCKCTCKKEPSSVSPSATVKTRSTKAPPPHLPLSPALTRAVEGVQYIADHLKAEDTDFSVKEDWKYVAMVIDR
  IFLWMFIIVCLLGTVGLFLPPWLAGMI

• Structural information:
  • Interpro: IPR006202  IPR036734  IPR006201  IPR036719  IPR006029   IPR018000  IPR002394  
  • Prosite: PS00236
  • PDB: 2GVT 2LLY 5KXI 6CNJ 6CNK
  • PDBsum: 2GVT 2LLY 5KXI 6CNJ 6CNK
  • STRING: ENSP00000359285
• Other Databases: GeneCards:  CHRNA4  Malacards:  CHRNA4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050877	nervous system process	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0042166	acetylcholine binding	IBA	contributes to
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0007165	signal transduction	IBA	biological process
GO:0005892	acetylcholine-gated channel complex	IBA	cellular component
GO:0045202	synapse	IBA	cellular component
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0035094	response to nicotine	IBA	biological process
GO:0034220	ion transmembrane transport	IBA	biological process
GO:0030594	neurotransmitter receptor activity	IBA	molecular function
GO:0007274	neuromuscular synaptic transmission	IBA	biological process
GO:0007271	synaptic transmission, cholinergic	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0022848	acetylcholine-gated cation-selective channel activity	TAS	molecular function
GO:0015276	ligand-gated ion channel activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005230	extracellular ligand-gated ion channel activity	IEA	molecular function
GO:0022848	acetylcholine-gated cation-selective channel activity	IEA	molecular function
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001508	action potential	IEA	biological process
GO:0005892	acetylcholine-gated channel complex	IEA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0014059	regulation of dopamine secretion	IEA	biological process
GO:0022848	acetylcholine-gated cation-selective channel activity	IEA	molecular function
GO:0035095	behavioral response to nicotine	IEA	biological process
GO:0050877	nervous system process	IEA	biological process
GO:0098691	dopaminergic synapse	IEA	cellular component
GO:2000300	regulation of synaptic vesicle exocytosis	IEA	biological process
GO:0005216	ion channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0007271	synaptic transmission, cholinergic	IEA	biological process
GO:0007585	respiratory gaseous exchange by respiratory system	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0015464	acetylcholine receptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0019233	sensory perception of pain	IEA	biological process
GO:0035094	response to nicotine	IEA	biological process
GO:0035640	exploration behavior	IEA	biological process
GO:0042113	B cell activation	IEA	biological process
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0051899	membrane depolarization	IEA	biological process
GO:0060080	inhibitory postsynaptic potential	IEA	biological process
GO:0095500	acetylcholine receptor signaling pathway	IEA	biological process
GO:0099056	integral component of presynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0042166	acetylcholine binding	IC	molecular function
GO:0001666	response to hypoxia	IDA	biological process
GO:0015464	acetylcholine receptor activity	IDA	molecular function
GO:0035094	response to nicotine	IDA	biological process
GO:0007165	signal transduction	IDA	biological process
GO:0005892	acetylcholine-gated channel complex	IDA	cellular component
GO:0022848	acetylcholine-gated cation-selective channel activity	IDA	molecular function
GO:0050877	nervous system process	IMP	biological process
GO:0035095	behavioral response to nicotine	IMP	biological process
GO:0030425	dendrite	ISS	cellular component
GO:0014059	regulation of dopamine secretion	ISS	biological process
GO:0007268	chemical synaptic transmission	NAS	biological process
GO:0006281	DNA repair	IMP	biological process
GO:0001508	action potential	ISS	biological process
GO:0060080	inhibitory postsynaptic potential	ISS	biological process
GO:0050890	cognition	IMP	biological process
GO:0043025	neuronal cell body	ISS	cellular component
GO:0042391	regulation of membrane potential	ISS	biological process
GO:0042113	B cell activation	ISS	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0006979	response to oxidative stress	IMP	biological process
GO:0050877	nervous system process	IMP	biological process
GO:0006816	calcium ion transport	ISS	biological process
GO:0051899	membrane depolarization	ISS	biological process
GO:0019233	sensory perception of pain	ISS	biological process
GO:0016020	membrane	ISS	cellular component
GO:0009897	external side of plasma membrane	ISS	cellular component
GO:0007271	synaptic transmission, cholinergic	ISS	biological process
GO:0006811	ion transport	NAS	biological process
GO:0005886	plasma membrane	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04725	Cholinergic synapse
hsa05033	Nicotine addiction

Diseases

Associated diseases	References
Nocturnal frontal lobe epilepsy	KEGG:H00807
Nocturnal frontal lobe epilepsy	KEGG:H00807
Alzheimer's disease	PMID:15465084
Lewy body dementia	PMID:15465084
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq