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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1137
Gene name Gene Name - the full gene name approved by the HGNC.	Cholinergic receptor nicotinic alpha 4 subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CHRNA4
Synonyms (NCBI Gene) Gene synonyms aliases	BFNC, EBN, EBN1, NACHR, NACHRA4, NACRA4
Chromosome Chromosome number	20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	20q13.33
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change

Show/Hide all(21)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28931591	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs45588436	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs56142348	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs56175056	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs76378652	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, non coding transcript variant, missense variant, synonymous variant
rs77345643	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs111969225	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs121909580	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121912253	C>G,T	Not-provided, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs121912283	C>A,T	Not-provided, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs137860047	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs142646795	G>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs143103435	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, not-provided	Coding sequence variant, upstream transcript variant, missense variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs150336658	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs200243948	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs281865066	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs281865067	->CAG	Pathogenic	Coding sequence variant, inframe insertion, non coding transcript variant
rs281865068	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs755416498	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs796052317	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs796052318	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant

Show/Hide all(79)

miRTarBase ID	miRNA	Experiments
MIRT891746	hsa-miR-1233	CLIP-seq
MIRT891747	hsa-miR-1291	CLIP-seq
MIRT891748	hsa-miR-1470	CLIP-seq
MIRT891749	hsa-miR-184	CLIP-seq
MIRT891750	hsa-miR-188-5p	CLIP-seq
MIRT891751	hsa-miR-1972	CLIP-seq
MIRT891752	hsa-miR-1973	CLIP-seq
MIRT891753	hsa-miR-199a-5p	CLIP-seq
MIRT891754	hsa-miR-199b-5p	CLIP-seq
MIRT891755	hsa-miR-2909	CLIP-seq
MIRT891756	hsa-miR-3173-5p	CLIP-seq
MIRT891757	hsa-miR-3177-3p	CLIP-seq
MIRT891758	hsa-miR-3194-5p	CLIP-seq
MIRT891759	hsa-miR-328	CLIP-seq
MIRT891760	hsa-miR-342-5p	CLIP-seq
MIRT891761	hsa-miR-3616-3p	CLIP-seq
MIRT891762	hsa-miR-3622b-5p	CLIP-seq
MIRT891763	hsa-miR-3921	CLIP-seq
MIRT891764	hsa-miR-3940-3p	CLIP-seq
MIRT891765	hsa-miR-4251	CLIP-seq
MIRT891766	hsa-miR-4253	CLIP-seq
MIRT891767	hsa-miR-4270	CLIP-seq
MIRT891768	hsa-miR-4278	CLIP-seq
MIRT891769	hsa-miR-4323	CLIP-seq
MIRT891770	hsa-miR-4329	CLIP-seq
MIRT891771	hsa-miR-4434	CLIP-seq
MIRT891772	hsa-miR-4441	CLIP-seq
MIRT891773	hsa-miR-4516	CLIP-seq
MIRT891774	hsa-miR-4653-5p	CLIP-seq
MIRT891775	hsa-miR-4664-5p	CLIP-seq
MIRT891776	hsa-miR-4667-3p	CLIP-seq
MIRT891777	hsa-miR-4685-5p	CLIP-seq
MIRT891778	hsa-miR-4701-5p	CLIP-seq
MIRT891779	hsa-miR-4716-3p	CLIP-seq
MIRT891780	hsa-miR-4717-5p	CLIP-seq
MIRT891781	hsa-miR-4722-3p	CLIP-seq
MIRT891782	hsa-miR-4755-3p	CLIP-seq
MIRT891783	hsa-miR-4761-3p	CLIP-seq
MIRT891784	hsa-miR-4786-3p	CLIP-seq
MIRT891785	hsa-miR-4786-5p	CLIP-seq
MIRT891786	hsa-miR-588	CLIP-seq
MIRT891787	hsa-miR-769-5p	CLIP-seq
MIRT1964294	hsa-miR-1184	CLIP-seq
MIRT1964295	hsa-miR-1254	CLIP-seq
MIRT1964296	hsa-miR-1324	CLIP-seq
MIRT1964297	hsa-miR-3116	CLIP-seq
MIRT1964298	hsa-miR-4706	CLIP-seq
MIRT1964299	hsa-miR-4749-5p	CLIP-seq
MIRT1964300	hsa-miR-550a	CLIP-seq
MIRT1964301	hsa-miR-661	CLIP-seq
MIRT2200405	hsa-miR-146b-3p	CLIP-seq
MIRT2200406	hsa-miR-15a	CLIP-seq
MIRT2200407	hsa-miR-15b	CLIP-seq
MIRT2200408	hsa-miR-16	CLIP-seq
MIRT891749	hsa-miR-184	CLIP-seq
MIRT2200409	hsa-miR-195	CLIP-seq
MIRT2200410	hsa-miR-31	CLIP-seq
MIRT2200411	hsa-miR-3128	CLIP-seq
MIRT891756	hsa-miR-3173-5p	CLIP-seq
MIRT891761	hsa-miR-3616-3p	CLIP-seq
MIRT891762	hsa-miR-3622b-5p	CLIP-seq
MIRT2200412	hsa-miR-3665	CLIP-seq
MIRT2200413	hsa-miR-424	CLIP-seq
MIRT891766	hsa-miR-4253	CLIP-seq
MIRT891777	hsa-miR-4685-5p	CLIP-seq
MIRT891781	hsa-miR-4722-3p	CLIP-seq
MIRT891782	hsa-miR-4755-3p	CLIP-seq
MIRT891783	hsa-miR-4761-3p	CLIP-seq
MIRT2200414	hsa-miR-4761-5p	CLIP-seq
MIRT891784	hsa-miR-4786-3p	CLIP-seq
MIRT2200415	hsa-miR-497	CLIP-seq
MIRT2200416	hsa-miR-645	CLIP-seq
MIRT2200417	hsa-miR-874	CLIP-seq
MIRT2386062	hsa-miR-1915	CLIP-seq
MIRT2386063	hsa-miR-345	CLIP-seq
MIRT891781	hsa-miR-4722-3p	CLIP-seq
MIRT2386064	hsa-miR-4726-3p	CLIP-seq
MIRT2386065	hsa-miR-4732-3p	CLIP-seq
MIRT2200414	hsa-miR-4761-5p	CLIP-seq

Show/Hide all(66)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	ISS
GO:0001666	Process	Response to hypoxia	IDA	12189247
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:0005515	Function	Protein binding	IPI	16238698, 27344019, 29720657, 32814053
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005892	Component	Acetylcholine-gated channel complex	IBA
GO:0005892	Component	Acetylcholine-gated channel complex	IDA	8906617, 17132685, 20881005, 27698419, 29720657, 38454578
GO:0005892	Component	Acetylcholine-gated channel complex	IEA
GO:0006281	Process	DNA repair	IMP	16332175
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	NAS	8906617
GO:0006816	Process	Calcium ion transport	ISS
GO:0006979	Process	Response to oxidative stress	IMP	16332175
GO:0007165	Process	Signal transduction	IDA	8906617
GO:0007268	Process	Chemical synaptic transmission	NAS	7550350
GO:0007271	Process	Synaptic transmission, cholinergic	IBA
GO:0007271	Process	Synaptic transmission, cholinergic	IDA	17132685, 27698419, 29720657, 38454578
GO:0007271	Process	Synaptic transmission, cholinergic	ISS
GO:0007274	Process	Neuromuscular synaptic transmission	IBA
GO:0009897	Component	External side of plasma membrane	ISS
GO:0014059	Process	Regulation of dopamine secretion	ISS
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	TAS	20438829
GO:0015464	Function	Acetylcholine receptor activity	IDA	8906617
GO:0015464	Function	Acetylcholine receptor activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016020	Component	Membrane	NAS	8906617
GO:0019233	Process	Sensory perception of pain	ISS
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IBA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IDA	8906617, 17132685, 27698419, 29720657, 38454578
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	TAS	20438829
GO:0030425	Component	Dendrite	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034703	Component	Cation channel complex	IDA	17132685, 20881005, 38454578
GO:0035094	Process	Response to nicotine	IBA
GO:0035094	Process	Response to nicotine	IDA	12189247
GO:0035095	Process	Behavioral response to nicotine	IMP	17955458
GO:0042113	Process	B cell activation	ISS
GO:0042166	Function	Acetylcholine binding	IC	8906617
GO:0042391	Process	Regulation of membrane potential	ISS
GO:0042734	Component	Presynaptic membrane	ISS
GO:0043005	Component	Neuron projection	IBA
GO:0043025	Component	Neuronal cell body	ISS
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0050877	Process	Nervous system process	IMP	7550350, 17613539
GO:0050890	Process	Cognition	IMP	14623738
GO:0051899	Process	Membrane depolarization	IBA
GO:0051899	Process	Membrane depolarization	ISS
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0060080	Process	Inhibitory postsynaptic potential	ISS
GO:0095500	Process	Acetylcholine receptor signaling pathway	IBA
GO:0095500	Process	Acetylcholine receptor signaling pathway	IDA	11752216, 17132685, 27698419, 29720657, 38454578
GO:0097060	Component	Synaptic membrane	IEA
GO:0098878	Component	Neurotransmitter receptor complex	IDA	17132685, 20881005, 38454578
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IBA
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IDA	11752216

MIM	HGNC	e!Ensembl
118504	1958	ENSG00000101204

Protein

UniProt ID

P43681

Protein name

Neuronal acetylcholine receptor subunit alpha-4

Protein function

Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nA

PDB

2LLY , 5KXI , 6CNJ , 6CNK , 6UR8 , 6USF , 8SSZ , 8ST0 , 8ST1 , 8ST2 , 8ST3 , 8ST4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	37 → 243	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	250 → 618	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MELGGPGAPRLLPPLLLLLGTGLLRASSHVETRAHAEERLLKKLFSGYNKWSRPVANISD
VVLVRFGLSIAQLIDVDEKNQMMTTNVWVKQEWHDYKLRWDPADYENVTSIRIPSELIWR
PDIVLYNNADGDFAVTHLTKAHLFHDGRVQWTPPAIYKSSCSIDVTFFPFDQQNCTMKFG
SWTYDKAKIDLVNMHSRVDQLDFWESGEWVIVDAVGTYNTRKYECCAEIYPDITYAFVIR
RLPLFYTINLIIPCLLISCLTVLVFYLPSECGEKITLCISVLLSLTVFLLLITEIIPSTS
LVIPLIGEYLLFTMIFVTLSIVITVFVLNVHHRSPRTHTMPTWVRRVFLDIVPRLLLMKR
PSVVKDNCRRLIESMHKMASAPRFWPEPEGEPPATSGTQSLHPPSPSFCVPLDVPAEPGP
SCKSPSDQLPPQQPLEAEKASPHPSPGPCRPPHGTQAPGLAKARSLSVQHMSSPGEAVEG
GVRCRSRSIQYCVPRDDAAPEADGQAAGALASRNTHSAELPPPDQPSPCKCTCKKEPSSV
SPSATVKTRSTKAPPPHLPLSPALTRAVEGVQYIADHLKAEDTDFSVKEDWKYVAMVIDR
IFLWMFIIVCLLGTVGLFLPPWLAGMI

Sequence length

627

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Cholinergic synapse Nicotine addiction Chemical carcinogenesis - receptor activation		Highly sodium permeable postsynaptic acetylcholine nicotinic receptors Highly calcium permeable postsynaptic nicotinic acetylcholine receptors Highly calcium permeable nicotinic acetylcholine 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
Nocturnal Epilepsy	autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 1	rs28931591, rs281865067, rs121909580	N/A

Show/Hide Unknown Diseases (5)

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.
Amyotrophic Lateral Sclerosis	amyotrophic lateral sclerosis	N/A	N/A	ClinVar
Epilepsy	familial sleep-related hypermotor epilepsy	N/A	N/A	GenCC
Frontotemporal dementia	frontotemporal dementia	N/A	N/A	ClinVar
Mental retardation	intellectual disability	N/A	N/A	ClinVar
seizure	Seizure	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (70)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute Kidney Injury	Associate	24569419
Adenocarcinoma	Associate	28726253
Albuminuria	Associate	24569419
Alcoholism	Associate	31294817
Alzheimer Disease	Inhibit	15234980
Alzheimer Disease	Associate	40159555
Aortic Aneurysm Abdominal	Associate	26952864
Aortic Aneurysm Familial Abdominal 1	Associate	26952864
Attention Deficit Disorder with Hyperactivity	Associate	17504247, 26598068, 37667328
Auditory Perceptual Disorders	Associate	17504247
Autistic Disorder	Associate	31294817
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Associate	10802757, 12887442, 12887446, 17385675, 17900292, 19237585, 19577488, 22036597, 23553139, 9758605
Brain Diseases	Associate	34206324
Breast Neoplasms	Associate	22085699, 31963558, 32272701
Carcinogenesis	Associate	16582591
Carcinoma Non Small Cell Lung	Associate	19139119, 19654299, 25028095
Carcinoma Pancreatic Ductal	Associate	23213073
Channelopathies	Associate	33652901
Cognition Disorders	Associate	22036597
COVID 19	Associate	34924680, 36982671
Dental Plaque	Associate	10037489
Depressive Disorder	Associate	22008229, 26125703
Diabetes Mellitus	Associate	22586585
Diabetes Mellitus Type 2	Associate	22586585
Disruptive Impulse Control and Conduct Disorders	Associate	17504247
Dyslexia	Associate	37667328
Epilepsies Partial	Associate	12887442
Epilepsy	Associate	19577488
Epilepsy Idiopathic Generalized	Associate	17385675, 19577488, 23553139
Epilepsy Nocturnal Frontal Lobe Type 1	Associate	10802757
Epilepsy Partial with Variable Foci	Associate	29630124
Epilepsy Rolandic	Associate	32342646
Epileptic Syndromes	Associate	17385675, 19577488, 29630124
Esophageal Motility Disorders	Associate	17962128
Exfoliation Syndrome	Associate	17488453
Familial paroxysmal dystonia	Associate	29454195
Fatigue Syndrome Chronic	Associate	27834303
Generalized Epilepsy With Febrile Seizures Plus Type 1	Associate	29454195
Glioblastoma	Associate	33276105
Heroin Dependence	Associate	31294817
Hirschsprung Disease	Associate	17962128
Inflammation	Associate	32230846
Insulin Resistance	Associate	22586585
Intellectual Disability	Associate	22036597
Kidney Diseases	Associate	24569419
Lung Neoplasms	Associate	20124469, 20332232, 23232035, 23843950, 26952864
Mitochondrial Diseases	Associate	36918699
Myasthenia Gravis	Associate	9649579
Myasthenic Syndromes Congenital	Associate	29497086, 33652901
Myoclonic Epilepsy Juvenile	Associate	19577488
Neoplasms	Associate	32272701
Nervous System Diseases	Associate	21949802
Neurologic Manifestations	Associate	20805988, 22036597, 29663646, 32463026
Nocturia	Associate	26125703
Nocturnal Paroxysmal Dystonia	Associate	31835056, 32097883, 35093606
Ovarian Neoplasms	Associate	32649943
Pain	Associate	26125703
Pancreatic Neoplasms	Associate	22188668
Parkinson Disease	Associate	21252231, 26125703
Peripheral Arterial Disease	Associate	26952864
Pulmonary Disease Chronic Obstructive	Associate	22438921, 23349703, 26952864
Respiratory Tract Diseases	Associate	33050277
Schizophrenia	Associate	22036597, 25934188, 31294817
Seizures	Associate	12887442
Seizures Febrile	Associate	12887442
Sleep Wake Disorders	Associate	26125703
Small Cell Lung Carcinoma	Associate	20124469
Smoke Inhalation Injury	Associate	26952864
Squamous Cell Carcinoma of Head and Neck	Associate	17465209, 25956553, 36284268
Tobacco Use Disorder	Associate	19237585, 20124469, 20584212, 21949802, 24569419, 26952864, 31294817

CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit)