• Gene id: 1143

Gene Summary

• Gene Symbol: CHRNB4   Gene   UCSC   Ensembl
• Gene name: cholinergic receptor nicotinic beta 4 subunit
• Alternate names: neuronal acetylcholine receptor subunit beta-4, acetylcholine receptor, nicotinic, beta 4 (neuronal), cholinergic receptor, nicotinic, beta 4 (neuronal), cholinergic receptor, nicotinic, beta polypeptide 4, neuronal nicotinic receptor beta 4 subunit,
• Gene location: 15q25.1 (78655585: 78623281)     Exons: 15     NC_000015.10
• Gene summary(Entrez): This gene is found within a conserved gene cluster and encodes one of the beta subunits of the nicotinic acetylcholine receptor (nAChRs) superfamily which form ligand-gated ion channels with a central pore that forms a cation channel. Neuronal nAChRs are
• OMIM: 603110

Protein Summary

• Protein general information: P30926  
  • Name: Neuronal acetylcholine receptor subunit beta 4
  • Length: 498  
  • Mass: 56380
• Sequence:

  MRRAPSLVLFFLVALCGRGNCRVANAEEKLMDDLLNKTRYNNLIRPATSSSQLISIKLQLSLAQLISVNEREQIM
  TTNVWLKQEWTDYRLTWNSSRYEGVNILRIPAKRIWLPDIVLYNNADGTYEVSVYTNLIVRSNGSVLWLPPAIYK
  SACKIEVKYFPFDQQNCTLKFRSWTYDHTEIDMVLMTPTASMDDFTPSGEWDIVALPGRRTVNPQDPSYVDVTYD
  FIIKRKPLFYTINLIIPCVLTTLLAILVFYLPSDCGEKMTLCISVLLALTFFLLLISKIVPPTSLDVPLIGKYLM
  FTMVLVTFSIVTSVCVLNVHHRSPSTHTMAPWVKRCFLHKLPTFLFMKRPGPDSSPARAFPPSKSCVTKPEATAT
  STSPSNFYGNSMYFVNPASAASKSPAGSTPVAIPRDFWLRSSGRFRQDVQEALEGVSFIAQHMKNDDEDQSVVED
  WKYVAMVVDRLFLWVFMFVCVLGTVGLFLPPLFQTHAASEGPYAAQRD

• Structural information:
  • Interpro: IPR006202  IPR036734  IPR006201  IPR036719  IPR006029   IPR018000  IPR002394  
  • Prosite: PS00236
  • PDB: 2ASG 6PV7 6PV8
  • PDBsum: 2ASG 6PV7 6PV8
  • STRING: ENSP00000261751
• Other Databases: GeneCards:  CHRNB4  Malacards:  CHRNB4

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:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0007271	synaptic transmission, cholinergic	TAS	biological process
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:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0070821	tertiary granule membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0001508	action potential	IEA	biological process
GO:0006939	smooth muscle contraction	IEA	biological process
GO:0006940	regulation of smooth muscle contraction	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0035095	behavioral response to nicotine	IEA	biological process
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:0005892	acetylcholine-gated channel complex	IEA	cellular component
GO:0042166	acetylcholine binding	IEA	molecular function
GO:0043005	neuron projection	IEA	cellular component
GO:0035094	response to nicotine	IEA	biological process
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0051971	positive regulation of transmission of nerve impulse	IEA	biological process
GO:0060084	synaptic transmission involved in micturition	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0008144	drug binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
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: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:0022848	acetylcholine-gated cation-selective channel activity	IDA	molecular function
GO:0007165	signal transduction	IDA	biological process
GO:0005892	acetylcholine-gated channel complex	IDA	cellular component
GO:0015464	acetylcholine receptor activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IC	cellular component
GO:0022848	acetylcholine-gated cation-selective channel activity	TAS	molecular function
GO:0016021	integral component of membrane	NAS	cellular component
GO:0046928	regulation of neurotransmitter secretion	NAS	biological process
GO:0005892	acetylcholine-gated channel complex	TAS	cellular component
GO:0022848	acetylcholine-gated cation-selective channel activity	TAS	molecular function
GO:0060084	synaptic transmission involved in micturition	IMP	biological process
GO:0006811	ion transport	TAS	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R