• Gene id: 1141

Gene Summary

• Gene Symbol: CHRNB2   Gene   UCSC   Ensembl
• Aliases: EFNL3, nAChRB2
• Gene name: cholinergic receptor nicotinic beta 2 subunit
• Alternate names: neuronal acetylcholine receptor subunit beta-2, acetylcholine receptor, nicotinic, beta 2 (neuronal), beta2 human neuronal nicotinic acetylcholine receptor, cholinergic receptor, nicotinic beta 2, cholinergic receptor, nicotinic, beta 2 (neuronal), cholinergic,
• Gene location: 1q21.3 (154567777: 154584707)     Exons: 7     NC_000001.11
• Gene summary(Entrez): Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in r
• OMIM: 607894

Protein Summary

• Protein general information: P17787  
  • Name: Neuronal acetylcholine receptor subunit beta 2
  • Length: 502  
  • Mass: 57019
• Sequence:

  MARRCGPVALLLGFGLLRLCSGVWGTDTEERLVEHLLDPSRYNKLIRPATNGSELVTVQLMVSLAQLISVHEREQ
  IMTTNVWLTQEWEDYRLTWKPEEFDNMKKVRLPSKHIWLPDVVLYNNADGMYEVSFYSNAVVSYDGSIFWLPPAI
  YKSACKIEVKHFPFDQQNCTMKFRSWTYDRTEIDLVLKSEVASLDDFTPSGEWDIVALPGRRNENPDDSTYVDIT
  YDFIIRRKPLFYTINLIIPCVLITSLAILVFYLPSDCGEKMTLCISVLLALTVFLLLISKIVPPTSLDVPLVGKY
  LMFTMVLVTFSIVTSVCVLNVHHRSPTTHTMAPWVKVVFLEKLPALLFMQQPRHHCARQRLRLRRRQREREGAGA
  LFFREAPGADSCTCFVNRASVQGLAGAFGAEPAPVAGPGRSGEPCGCGLREAVDGVRFIADHMRSEDDDQSVSED
  WKYVAMVIDRLFLWIFVFVCVFGTIGMFLQPLFQNYTTTTFLHSDHSAPSSK

• Structural information:
  • Interpro: IPR032932  IPR006202  IPR036734  IPR006201  IPR036719   IPR006029  IPR018000  IPR002394  
  • Prosite: PS00236
  • PDB: 2GVT 2K58 2K59 2KSR 2LM2 5KXI 6CNJ 6CNK
  • PDBsum: 2GVT 2K58 2K59 2KSR 2LM2 5KXI 6CNJ 6CNK
  • STRING: ENSP00000357461
• Other Databases: GeneCards:  CHRNB2  Malacards:  CHRNB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0022848	acetylcholine-gated cation-selective channel activity	ISS	molecular function
GO:0044853	plasma membrane raft	ISS	cellular component
GO:1905144	response to acetylcholine	ISS	biological process
GO:0095500	acetylcholine receptor signaling pathway	ISS	biological process
GO:0050877	nervous system process	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
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:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic 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:0005892	acetylcholine-gated channel complex	IEA	cellular component
GO:0022848	acetylcholine-gated cation-selective channel activity	IEA	molecular function
GO:0033603	positive regulation of dopamine secretion	IEA	biological process
GO:0042166	acetylcholine binding	IEA	molecular function
GO:0098981	cholinergic synapse	IEA	cellular component
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA	molecular function
GO:0001508	action potential	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0005892	acetylcholine-gated channel complex	IEA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0006939	smooth muscle contraction	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0007613	memory	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0014059	regulation of dopamine secretion	IEA	biological process
GO:0021771	lateral geniculate nucleus development	IEA	biological process
GO:0022848	acetylcholine-gated cation-selective channel activity	IEA	molecular function
GO:0032225	regulation of synaptic transmission, dopaminergic	IEA	biological process
GO:0032226	positive regulation of synaptic transmission, dopaminergic	IEA	biological process
GO:0033603	positive regulation of dopamine secretion	IEA	biological process
GO:0035095	behavioral response to nicotine	IEA	biological process
GO:0035176	social behavior	IEA	biological process
GO:0042053	regulation of dopamine metabolic process	IEA	biological process
GO:0042320	regulation of circadian sleep/wake cycle, REM sleep	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0051963	regulation of synapse assembly	IEA	biological process
GO:0098691	dopaminergic synapse	IEA	cellular component
GO:0098981	cholinergic synapse	IEA	cellular component
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA	molecular function
GO:2000300	regulation of synaptic vesicle exocytosis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007271	synaptic transmission, cholinergic	IEA	biological process
GO:0008144	drug binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0035094	response to nicotine	IEA	biological process
GO:0044853	plasma membrane raft	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0095500	acetylcholine receptor signaling pathway	IEA	biological process
GO:0099056	integral component of presynaptic membrane	IEA	cellular component
GO:0099060	integral component of postsynaptic specialization membrane	IEA	cellular component
GO:1905144	response to acetylcholine	IEA	biological process
GO:0001661	conditioned taste aversion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0007612	learning	IEA	biological process
GO:0008306	associative learning	IEA	biological process
GO:0008542	visual learning	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0019233	sensory perception of pain	IEA	biological process
GO:0021562	vestibulocochlear nerve development	IEA	biological process
GO:0021631	optic nerve morphogenesis	IEA	biological process
GO:0021952	central nervous system projection neuron axonogenesis	IEA	biological process
GO:0021955	central nervous system neuron axonogenesis	IEA	biological process
GO:0030890	positive regulation of B cell proliferation	IEA	biological process
GO:0035094	response to nicotine	IEA	biological process
GO:0042113	B cell activation	IEA	biological process
GO:0042220	response to cocaine	IEA	biological process
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0045188	regulation of circadian sleep/wake cycle, non-REM sleep	IEA	biological process
GO:0045759	negative regulation of action potential	IEA	biological process
GO:0048814	regulation of dendrite morphogenesis	IEA	biological process
GO:0051899	membrane depolarization	IEA	biological process
GO:0060084	synaptic transmission involved in micturition	IEA	biological process
GO:0095500	acetylcholine receptor signaling pathway	IEA	biological process
GO:0099056	integral component of presynaptic membrane	IEA	cellular component
GO:0099060	integral component of postsynaptic specialization 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:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0035094	response to nicotine	IDA	biological process
GO:0015464	acetylcholine receptor activity	IDA	molecular function
GO:0022848	acetylcholine-gated cation-selective channel activity	IDA	molecular function
GO:0042166	acetylcholine binding	IC	molecular function
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:0001666	response to hypoxia	IDA	biological process
GO:0042320	regulation of circadian sleep/wake cycle, REM sleep	ISS	biological process
GO:0035176	social behavior	ISS	biological process
GO:0032225	regulation of synaptic transmission, dopaminergic	ISS	biological process
GO:0021771	lateral geniculate nucleus development	ISS	biological process
GO:0014059	regulation of dopamine secretion	ISS	biological process
GO:0007626	locomotory behavior	ISS	biological process
GO:0006939	smooth muscle contraction	ISS	biological process
GO:0060084	synaptic transmission involved in micturition	ISS	biological process
GO:0045759	negative regulation of action potential	ISS	biological process
GO:0021952	central nervous system projection neuron axonogenesis	ISS	biological process
GO:0021562	vestibulocochlear nerve development	ISS	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0008542	visual learning	IMP	biological process
GO:0007612	learning	IMP	biological process
GO:0007605	sensory perception of sound	ISS	biological process
GO:0006811	ion transport	NAS	biological process
GO:0051963	regulation of synapse assembly	ISS	biological process
GO:0050877	nervous system process	IMP	biological process
GO:0045471	response to ethanol	ISS	biological process
GO:0042166	acetylcholine binding	IMP	molecular function
GO:0042053	regulation of dopamine metabolic process	ISS	biological process
GO:0035095	behavioral response to nicotine	IMP	biological process
GO:0033603	positive regulation of dopamine secretion	ISS	biological process
GO:0007613	memory	IMP	biological process
GO:0007601	visual perception	ISS	biological process
GO:0006816	calcium ion transport	ISS	biological process
GO:0051899	membrane depolarization	ISS	biological process
GO:0050890	cognition	IMP	biological process
GO:0048814	regulation of dendrite morphogenesis	ISS	biological process
GO:0042220	response to cocaine	ISS	biological process
GO:0042113	B cell activation	ISS	biological process
GO:0030890	positive regulation of B cell proliferation	ISS	biological process
GO:0021631	optic nerve morphogenesis	ISS	biological process
GO:0019233	sensory perception of pain	ISS	biological process
GO:0009897	external side of plasma membrane	ISS	cellular component
GO:0008306	associative learning	ISS	biological process
GO:0007271	synaptic transmission, cholinergic	ISS	biological process

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
Autosomal dominant nocturnal frontal lobe epilepsy	PMID:11104662
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