Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1145
Gene name Gene Name - the full gene name approved by the HGNC.	Cholinergic receptor nicotinic epsilon subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CHRNE
Synonyms (NCBI Gene) Gene synonyms aliases	ACHRE, CMS1A1, CMS1D, CMS1E, CMS2A, CMS4A, CMS4B, CMS4C, FCCMS, FIM1, FIMG, FIMG1, MGI, SCCMS
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17p13.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(99)

miRTarBase ID	miRNA	Experiments	Reference
MIRT714672	hsa-miR-4687-5p	HITS-CLIP	19536157
MIRT714671	hsa-miR-4639-3p	HITS-CLIP	19536157
MIRT714670	hsa-miR-4270	HITS-CLIP	19536157
MIRT714669	hsa-miR-4441	HITS-CLIP	19536157
MIRT714668	hsa-miR-6754-5p	HITS-CLIP	19536157
MIRT714667	hsa-miR-1233-3p	HITS-CLIP	19536157
MIRT714666	hsa-miR-6827-5p	HITS-CLIP	19536157
MIRT714665	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT714664	hsa-miR-4732-5p	HITS-CLIP	19536157
MIRT714672	hsa-miR-4687-5p	HITS-CLIP	19536157
MIRT714671	hsa-miR-4639-3p	HITS-CLIP	19536157
MIRT714670	hsa-miR-4270	HITS-CLIP	19536157
MIRT714669	hsa-miR-4441	HITS-CLIP	19536157
MIRT714668	hsa-miR-6754-5p	HITS-CLIP	19536157
MIRT714667	hsa-miR-1233-3p	HITS-CLIP	19536157
MIRT714666	hsa-miR-6827-5p	HITS-CLIP	19536157
MIRT714665	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT714664	hsa-miR-4732-5p	HITS-CLIP	19536157
MIRT892104	hsa-miR-1299	CLIP-seq
MIRT892105	hsa-miR-19a	CLIP-seq
MIRT892106	hsa-miR-19b	CLIP-seq
MIRT892107	hsa-miR-2110	CLIP-seq
MIRT892108	hsa-miR-3074-5p	CLIP-seq
MIRT892109	hsa-miR-3160-5p	CLIP-seq
MIRT892110	hsa-miR-3185	CLIP-seq
MIRT892111	hsa-miR-339-5p	CLIP-seq
MIRT892112	hsa-miR-3622a-3p	CLIP-seq
MIRT892113	hsa-miR-3622b-3p	CLIP-seq
MIRT892114	hsa-miR-4271	CLIP-seq
MIRT892115	hsa-miR-4324	CLIP-seq
MIRT892116	hsa-miR-4463	CLIP-seq
MIRT892117	hsa-miR-4685-5p	CLIP-seq
MIRT892118	hsa-miR-4688	CLIP-seq
MIRT892119	hsa-miR-4725-3p	CLIP-seq
MIRT892120	hsa-miR-4782-5p	CLIP-seq
MIRT892121	hsa-miR-486-3p	CLIP-seq
MIRT892122	hsa-miR-491-5p	CLIP-seq
MIRT892123	hsa-miR-516b	CLIP-seq
MIRT892124	hsa-miR-548v	CLIP-seq
MIRT892125	hsa-miR-7	CLIP-seq
MIRT892126	hsa-miR-875-3p	CLIP-seq
MIRT892104	hsa-miR-1299	CLIP-seq
MIRT892109	hsa-miR-3160-5p	CLIP-seq
MIRT892112	hsa-miR-3622a-3p	CLIP-seq
MIRT892113	hsa-miR-3622b-3p	CLIP-seq
MIRT892115	hsa-miR-4324	CLIP-seq
MIRT892116	hsa-miR-4463	CLIP-seq
MIRT892120	hsa-miR-4782-5p	CLIP-seq
MIRT892123	hsa-miR-516b	CLIP-seq
MIRT892125	hsa-miR-7	CLIP-seq
MIRT892126	hsa-miR-875-3p	CLIP-seq
MIRT892104	hsa-miR-1299	CLIP-seq
MIRT892109	hsa-miR-3160-5p	CLIP-seq
MIRT892112	hsa-miR-3622a-3p	CLIP-seq
MIRT892113	hsa-miR-3622b-3p	CLIP-seq
MIRT892115	hsa-miR-4324	CLIP-seq
MIRT892116	hsa-miR-4463	CLIP-seq
MIRT892120	hsa-miR-4782-5p	CLIP-seq
MIRT892123	hsa-miR-516b	CLIP-seq
MIRT892125	hsa-miR-7	CLIP-seq
MIRT892126	hsa-miR-875-3p	CLIP-seq
MIRT892104	hsa-miR-1299	CLIP-seq
MIRT1964376	hsa-miR-1470	CLIP-seq
MIRT892109	hsa-miR-3160-5p	CLIP-seq
MIRT892112	hsa-miR-3622a-3p	CLIP-seq
MIRT892113	hsa-miR-3622b-3p	CLIP-seq
MIRT1964377	hsa-miR-4287	CLIP-seq
MIRT892115	hsa-miR-4324	CLIP-seq
MIRT892116	hsa-miR-4463	CLIP-seq
MIRT1964378	hsa-miR-4469	CLIP-seq
MIRT1964379	hsa-miR-4667-3p	CLIP-seq
MIRT1964380	hsa-miR-4685-3p	CLIP-seq
MIRT1964381	hsa-miR-4713-5p	CLIP-seq
MIRT892120	hsa-miR-4782-5p	CLIP-seq
MIRT892123	hsa-miR-516b	CLIP-seq
MIRT892125	hsa-miR-7	CLIP-seq
MIRT892126	hsa-miR-875-3p	CLIP-seq
MIRT892104	hsa-miR-1299	CLIP-seq
MIRT2200525	hsa-miR-3127-3p	CLIP-seq
MIRT892109	hsa-miR-3160-5p	CLIP-seq
MIRT2200526	hsa-miR-338-3p	CLIP-seq
MIRT892116	hsa-miR-4463	CLIP-seq
MIRT2200527	hsa-miR-4530	CLIP-seq
MIRT892120	hsa-miR-4782-5p	CLIP-seq
MIRT892123	hsa-miR-516b	CLIP-seq
MIRT892125	hsa-miR-7	CLIP-seq
MIRT2200528	hsa-miR-766	CLIP-seq
MIRT892126	hsa-miR-875-3p	CLIP-seq
MIRT2200529	hsa-miR-922	CLIP-seq
MIRT892104	hsa-miR-1299	CLIP-seq
MIRT892109	hsa-miR-3160-5p	CLIP-seq
MIRT892112	hsa-miR-3622a-3p	CLIP-seq
MIRT892113	hsa-miR-3622b-3p	CLIP-seq
MIRT892115	hsa-miR-4324	CLIP-seq
MIRT892116	hsa-miR-4463	CLIP-seq
MIRT892120	hsa-miR-4782-5p	CLIP-seq
MIRT892123	hsa-miR-516b	CLIP-seq
MIRT892125	hsa-miR-7	CLIP-seq
MIRT892126	hsa-miR-875-3p	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
ETS2	Activation	9677435

Show/Hide all(39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003009	Process	Skeletal muscle contraction	IBA
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8872460
GO:0005892	Component	Acetylcholine-gated channel complex	IBA
GO:0005892	Component	Acetylcholine-gated channel complex	TAS	7531341
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006936	Process	Muscle contraction	IEA
GO:0006936	Process	Muscle contraction	TAS	8872460
GO:0007165	Process	Signal transduction	TAS	8872460
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007271	Process	Synaptic transmission, cholinergic	TAS	8872460
GO:0008324	Function	Monoatomic cation transmembrane transporter activity	TAS	8872460
GO:0015464	Function	Acetylcholine receptor activity	IBA
GO:0015464	Function	Acetylcholine receptor activity	TAS	8872460
GO:0016020	Component	Membrane	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IBA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	TAS	7531341
GO:0031594	Component	Neuromuscular junction	IDA	7531341
GO:0031594	Component	Neuromuscular junction	IMP	7531341
GO:0034220	Process	Monoatomic ion transmembrane transport	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051899	Process	Membrane depolarization	IBA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0095500	Process	Acetylcholine receptor signaling pathway	IBA
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IDA	7531341
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IMP	7531341
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	ISS

MIM	HGNC	e!Ensembl
100725	1966	ENSG00000108556

Protein

UniProt ID

Q04844

Protein name

Acetylcholine receptor subunit epsilon

Protein function

After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	24 → 240	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	247 → 474	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MARAPLGVLLLLGLLGRGVGKNEELRLYHHLFNNYDPGSRPVREPEDTVTISLKVTLTNL
ISLNEKEETLTTSVWIGIDWQDYRLNYSKDDFGGIETLRVPSELVWLPEIVLENNIDGQF
GVAYDANVLVYEGGSVTWLPPAIYRSVCAVEVTYFPFDWQNCSLIFRSQTYNAEEVEFTF
AVDNDGKTINKIDIDTEAYTENGEWAIDFCPGVIRRHHGGATDGPGETDVIYSLIIRRKP
LFYVINIIVPCVLISGLVLLAYFLPAQAGGQKCTVSINVLLAQTVFLFLIAQKIPETSLS
VPLLGRFLIFVMVVATLIVMNCVIVLNVSQRTPTTHAMSPRLRHVLLELLPRLLGSPPPP
EAPRAASPPRRASSVGLLLRAEELILKKPRSELVFEGQRHRQGTWTAAFCQSLGAAAPEV
RCCVDAVNFVAESTRDQEATGEEVSDWVRMGNALDNICFWAALVLFSVGSSLIFLGAYFN
RVPDLPYAPCIQP

Sequence length

493

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction		Highly sodium permeable postsynaptic acetylcholine nicotinic receptors

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Myasthenic Syndrome	Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4C	rs762368691, rs879255562, rs1597613302, rs1597622118, rs1555546465, rs753828284, rs879255563, rs1255916068, rs121909510, rs932032926, rs781774131, rs1597613479, rs1555547003, rs1597618854, rs121909511 View all (47 more)	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alzheimer Disease	Associate	34099642, 40542379
Bulbar Palsy Progressive	Associate	29383513
Congenital myasthenic syndrome ib	Associate	27717316, 29702980
Cumulative Trauma Disorders	Associate	27779167
Esophageal Neoplasms	Associate	23874846
Muscle Weakness	Associate	27779167, 29383513
Myasthenic syndrome congenital type Id	Associate	28690392
Myasthenic Syndromes Congenital	Associate	20562457, 27375219, 27717316, 27779167, 28024842, 28690392, 29383513, 29702980, 31560172, 34932651, 35466948, 35670010, 36891870, 37721175, 9539130
Myoclonus	Associate	27779167
Scoliosis	Associate	27779167

CHRNE (cholinergic receptor nicotinic epsilon subunit)