• Gene id: 8973

Gene Summary

• Gene Symbol: CHRNA6   Gene   UCSC   Ensembl
• Aliases: CHNRA6
• Gene name: cholinergic receptor nicotinic alpha 6 subunit
• Alternate names: neuronal acetylcholine receptor subunit alpha-6, acetylcholine receptor, nicotinic, alpha 6 (neuronal), cholinergic receptor, nicotinic alpha 6, cholinergic receptor, nicotinic, alpha 6 (neuronal), cholinergic receptor, nicotinic, alpha polypeptide 6,
• Gene location: 8p11.21 (42768785: 42752619)     Exons: 6     NC_000008.11
• Gene summary(Entrez): This gene encodes an alpha subunit of neuronal nicotinic acetylcholine receptors. These receptors consist of five subunits and function as ion channels involved in neurotransmission. The encoded protein is a subunit of neuronal nicotinic acetylcholine rec

Protein Summary

• Protein general information: Q15825  
  • Name: Neuronal acetylcholine receptor subunit alpha 6
  • Length: 494  
  • Mass: 56898
• Sequence:

  MLTSKGQGFLHGGLCLWLCVFTPFFKGCVGCATEERLFHKLFSHYNQFIRPVENVSDPVTVHFEVAITQLANVDE
  VNQIMETNLWLRHIWNDYKLRWDPMEYDGIETLRVPADKIWKPDIVLYNNAVGDFQVEGKTKALLKYNGMITWTP
  PAIFKSSCPMDITFFPFDHQNCSLKFGSWTYDKAEIDLLIIGSKVDMNDFWENSEWEIIDASGYKHDIKYNCCEE
  IYTDITYSFYIRRLPMFYTINLIIPCLFISFLTVLVFYLPSDCGEKVTLCISVLLSLTVFLLVITETIPSTSLVV
  PLVGEYLLFTMIFVTLSIVVTVFVLNIHYRTPTTHTMPRWVKTVFLKLLPQVLLMRWPLDKTRGTGSDAVPRGLA
  RRPAKGKLASHGEPRHLKECFHCHKSNELATSKRRLSHQPLQWVVENSEHSPEVEDVINSVQFIAENMKSHNETK
  EVEDDWKYVAMVVDRVFLWVFIIVCVFGTAGLFLQPLLGNTGKS

• Structural information:
  • Interpro: IPR006202  IPR036734  IPR006201  IPR036719  IPR006029   IPR018000  IPR002394  
  • Prosite: PS00236
  • STRING: ENSP00000276410
• Other Databases: GeneCards:  CHRNA6  Malacards:  CHRNA6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005892	acetylcholine-gated channel complex	IBA	cellular component
GO:0007165	signal transduction	IBA	biological process
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0042166	acetylcholine binding	IBA	contributes to
GO:0043005	neuron projection	IBA	cellular component
GO:0050877	nervous system process	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007271	synaptic transmission, cholinergic	IBA	biological process
GO:0007274	neuromuscular synaptic transmission	IBA	biological process
GO:0015464	acetylcholine receptor activity	IBA	contributes to
GO:0030594	neurotransmitter receptor activity	IBA	molecular function
GO:0034220	ion transmembrane transport	IBA	biological process
GO:0035094	response to nicotine	IBA	biological process
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0045202	synapse	IBA	cellular component
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:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0015464	acetylcholine receptor activity	TAS	molecular function
GO:0022848	acetylcholine-gated cation-selective channel activity	TAS	molecular function
GO:0005892	acetylcholine-gated channel complex	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0007268	chemical synaptic transmission	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:2000300	regulation of synaptic vesicle exocytosis	IEA	biological process
GO:0099055	integral component of postsynaptic membrane	IEA	cellular component
GO:0098691	dopaminergic synapse	IEA	cellular component
GO:0022848	acetylcholine-gated cation-selective channel activity	IEA	molecular function
GO:0014059	regulation of dopamine secretion	IEA	biological process
GO:0005892	acetylcholine-gated channel complex	IEA	cellular component
GO:0099056	integral component of presynaptic membrane	IEA	cellular component
GO:0051899	membrane depolarization	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma 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: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

KEGG pathways

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

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray