• Gene id: 1145

Gene Summary

• Gene Symbol: CHRNE   Gene   UCSC   Ensembl
• Aliases: ACHRE, CMS1D, CMS1E, CMS2A, CMS4A, CMS4B, CMS4C, FCCMS, SCCMS
• Gene name: cholinergic receptor nicotinic epsilon subunit
• Alternate names: acetylcholine receptor subunit epsilon, AchR epsilon subunit, acetylcholine receptor, nicotinic, epsilon (muscle), cholinergic receptor, nicotinic epsilon, cholinergic receptor, nicotinic, epsilon (muscle), cholinergic receptor, nicotinic, epsilon polypeptide,
• Gene location: 17p13.2 (4905018: 4897770)     Exons: 13     NC_000017.11
• Gene summary(Entrez): Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit c
• OMIM: 100725

Protein Summary

• Protein general information: Q04844  
  • Name: Acetylcholine receptor subunit epsilon
  • Length: 493  
  • Mass: 54697
• Sequence:

  MARAPLGVLLLLGLLGRGVGKNEELRLYHHLFNNYDPGSRPVREPEDTVTISLKVTLTNLISLNEKEETLTTSVW
  IGIDWQDYRLNYSKDDFGGIETLRVPSELVWLPEIVLENNIDGQFGVAYDANVLVYEGGSVTWLPPAIYRSVCAV
  EVTYFPFDWQNCSLIFRSQTYNAEEVEFTFAVDNDGKTINKIDIDTEAYTENGEWAIDFCPGVIRRHHGGATDGP
  GETDVIYSLIIRRKPLFYVINIIVPCVLISGLVLLAYFLPAQAGGQKCTVSINVLLAQTVFLFLIAQKIPETSLS
  VPLLGRFLIFVMVVATLIVMNCVIVLNVSQRTPTTHAMSPRLRHVLLELLPRLLGSPPPPEAPRAASPPRRASSV
  GLLLRAEELILKKPRSELVFEGQRHRQGTWTAAFCQSLGAAAPEVRCCVDAVNFVAESTRDQEATGEEVSDWVRM
  GNALDNICFWAALVLFSVGSSLIFLGAYFNRVPDLPYAPCIQP

• Structural information:
  • Interpro: IPR006202  IPR036734  IPR006201  IPR036719  IPR006029   IPR018000  IPR002394  
  • Prosite: PS00236
  • PDB: 2DF9
  • PDBsum: 2DF9
  • STRING: ENSP00000293780
• Other Databases: GeneCards:  CHRNE  Malacards:  CHRNE

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: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:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008324	cation transmembrane transporter activity	TAS	molecular function
GO:0015464	acetylcholine receptor activity	TAS	molecular function
GO:0022848	acetylcholine-gated cation-selective channel activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0007271	synaptic transmission, cholinergic	TAS	biological process
GO:0005892	acetylcholine-gated channel complex	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0022848	acetylcholine-gated cation-selective channel activity	IEA	molecular function
GO:0099060	integral component of postsynaptic specialization membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0031594	neuromuscular junction	IEA	cellular component
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:0098655	cation transmembrane transport	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:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IMP	molecular function
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IMP	molecular function
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IDA	molecular function
GO:0031594	neuromuscular junction	IMP	cellular component
GO:0031594	neuromuscular junction	IMP	cellular component
GO:0031594	neuromuscular junction	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction

Diseases

Associated diseases	References
Congenital myasthenic syndrome	KEGG:H00770
Congenital myasthenic syndrome	KEGG:H00770
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray