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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1136
Gene name	Cholinergic receptor nicotinic alpha 3 subunit
Gene symbol	CHRNA3
Synonyms (NCBI Gene)	BAIPRCKLNCR2NACHRA3PAOD2
Chromosome	15
Chromosome location	15q25.1
Summary	This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains charac

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs578776	G>A,C	Drug-response	3 prime UTR variant, intron variant
rs1051730	G>A	Drug-response, risk-factor	Non coding transcript variant, coding sequence variant, synonymous variant
rs199547652	A>C,G	Pathogenic	Splice donor variant
rs200551904	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1596073421	GT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

Show/Hide all (64)

miRTarBase ID	miRNA	Experiments
MIRT891725	hsa-miR-1197	CLIP-seq
MIRT891726	hsa-miR-1206	CLIP-seq
MIRT891727	hsa-miR-1224-5p	CLIP-seq
MIRT891728	hsa-miR-1294	CLIP-seq
MIRT891729	hsa-miR-129-5p	CLIP-seq
MIRT891730	hsa-miR-3148	CLIP-seq
MIRT891731	hsa-miR-3607-5p	CLIP-seq
MIRT891732	hsa-miR-4316	CLIP-seq
MIRT891733	hsa-miR-450b-5p	CLIP-seq
MIRT891734	hsa-miR-4640-3p	CLIP-seq
MIRT891735	hsa-miR-4704-3p	CLIP-seq
MIRT891736	hsa-miR-4751	CLIP-seq
MIRT891737	hsa-miR-507	CLIP-seq
MIRT891738	hsa-miR-548ae	CLIP-seq
MIRT891739	hsa-miR-548aj	CLIP-seq
MIRT891740	hsa-miR-548am	CLIP-seq
MIRT891741	hsa-miR-548x	CLIP-seq
MIRT891742	hsa-miR-557	CLIP-seq
MIRT891743	hsa-miR-3685	CLIP-seq
MIRT891744	hsa-miR-384	CLIP-seq
MIRT891745	hsa-miR-586	CLIP-seq
MIRT891729	hsa-miR-129-5p	CLIP-seq
MIRT1964287	hsa-miR-150	CLIP-seq
MIRT1964288	hsa-miR-192	CLIP-seq
MIRT1964289	hsa-miR-215	CLIP-seq
MIRT1964290	hsa-miR-4312	CLIP-seq
MIRT891733	hsa-miR-450b-5p	CLIP-seq
MIRT1964291	hsa-miR-4535	CLIP-seq
MIRT1964292	hsa-miR-4776-5p	CLIP-seq
MIRT1964293	hsa-miR-492	CLIP-seq
MIRT891737	hsa-miR-507	CLIP-seq
MIRT891742	hsa-miR-557	CLIP-seq
MIRT1964287	hsa-miR-150	CLIP-seq
MIRT1964288	hsa-miR-192	CLIP-seq
MIRT1964289	hsa-miR-215	CLIP-seq
MIRT1964290	hsa-miR-4312	CLIP-seq
MIRT1964291	hsa-miR-4535	CLIP-seq
MIRT1964292	hsa-miR-4776-5p	CLIP-seq
MIRT1964293	hsa-miR-492	CLIP-seq
MIRT2427324	hsa-miR-4261	CLIP-seq
MIRT2427325	hsa-miR-4666-5p	CLIP-seq
MIRT2427326	hsa-miR-494	CLIP-seq
MIRT2427327	hsa-miR-587	CLIP-seq
MIRT1964287	hsa-miR-150	CLIP-seq
MIRT2503228	hsa-miR-1915	CLIP-seq
MIRT2503229	hsa-miR-3617	CLIP-seq
MIRT2503230	hsa-miR-3913-3p	CLIP-seq
MIRT2503231	hsa-miR-4269	CLIP-seq
MIRT2503232	hsa-miR-4457	CLIP-seq
MIRT2503233	hsa-miR-4514	CLIP-seq
MIRT2503234	hsa-miR-4645-5p	CLIP-seq
MIRT2503235	hsa-miR-4673	CLIP-seq
MIRT2503236	hsa-miR-4692	CLIP-seq
MIRT2503237	hsa-miR-4713-5p	CLIP-seq
MIRT2503238	hsa-miR-4726-3p	CLIP-seq
MIRT2503239	hsa-miR-4731-3p	CLIP-seq
MIRT2503240	hsa-miR-4753-3p	CLIP-seq
MIRT2503241	hsa-miR-4801	CLIP-seq
MIRT2503242	hsa-miR-489	CLIP-seq
MIRT2503243	hsa-miR-532-3p	CLIP-seq
MIRT2503244	hsa-miR-641	CLIP-seq
MIRT2503245	hsa-miR-642b	CLIP-seq
MIRT2503246	hsa-miR-656	CLIP-seq
MIRT2503247	hsa-miR-940	CLIP-seq

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Transcription factor	Regulation	Reference
ASCL1	Unknown	20124469

Show/Hide all (64)

GO ID	Ontology	Definition	Evidence	Reference
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	26265139, 27344019
GO:0005730	Component	Nucleolus	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005892	Component	Acetylcholine-gated channel complex	IBA
GO:0005892	Component	Acetylcholine-gated channel complex	IDA	8906617, 11118490, 20881005, 31488329
GO:0005892	Component	Acetylcholine-gated channel complex	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	NAS	8906617
GO:0006940	Process	Regulation of smooth muscle contraction	ISS
GO:0007165	Process	Signal transduction	IDA	8906617
GO:0007271	Process	Synaptic transmission, cholinergic	IBA
GO:0007271	Process	Synaptic transmission, cholinergic	ISS
GO:0007274	Process	Neuromuscular synaptic transmission	IBA
GO:0007399	Process	Nervous system development	IMP	11450844
GO:0007626	Process	Locomotory behavior	ISS
GO:0014056	Process	Regulation of acetylcholine secretion, neurotransmission	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	NAS	8906617
GO:0016607	Component	Nuclear speck	IDA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IBA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IDA	8906617
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	ISS
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	11118490, 20881005, 31488329
GO:0034703	Component	Cation channel complex	ISS
GO:0035094	Process	Response to nicotine	IBA
GO:0035095	Process	Behavioral response to nicotine	IMP	18227835
GO:0036064	Component	Ciliary basal body	IDA
GO:0042166	Function	Acetylcholine binding	IC	8906617
GO:0042391	Process	Regulation of membrane potential	ISS
GO:0043005	Component	Neuron projection	IBA
GO:0043025	Component	Neuronal cell body	ISS
GO:0044853	Component	Plasma membrane raft	ISS
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048814	Process	Regulation of dendrite morphogenesis	ISS
GO:0051899	Process	Membrane depolarization	IBA
GO:0060079	Process	Excitatory postsynaptic potential	ISS
GO:0060084	Process	Synaptic transmission involved in micturition	IMP	11450844
GO:0095500	Process	Acetylcholine receptor signaling pathway	IBA
GO:0095500	Process	Acetylcholine receptor signaling pathway	ISS
GO:0097060	Component	Synaptic membrane	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098878	Component	Neurotransmitter receptor complex	IDA	11118490, 20881005, 31488329
GO:0098878	Component	Neurotransmitter receptor complex	ISS
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IBA
GO:1905144	Process	Response to acetylcholine	ISS

MIM	HGNC	e!Ensembl
118503	1957	ENSG00000080644

P32297

Protein name

Neuronal acetylcholine receptor subunit alpha-3

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

4ZK4 , 5SYO , 5TVC , 6PV7 , 6PV8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	35 → 241	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	248 → 495	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MGSGPLSLPLALSPPRLLLLLLLSLLPVARASEAEHRLFERLFEDYNEIIRPVANVSDPV
IIHFEVSMSQLVKVDEVNQIMETNLWLKQIWNDYKLKWNPSDYGGAEFMRVPAQKIWKPD
IVLYNNAVGDFQVDDKTKALLKYTGEVTWIPPAIFKSSCKIDVTYFPFDYQNCTMKFGSW
SYDKAKIDLVLIGSSMNLKDYWESGEWAIIKAPGYKHDIKYNCCEEIYPDITYSLYIRRL
PLFYTINLIIPCLLISFLTVLVFYLPSDCGEKVTLCISVLLSLTVFLLVITETIPSTSLV
IPLIGEYLLFTMIFVTLSIVITVFVLNVHYRTPTTHTMPSWVKTVFLNLLPRVMFMTRPT
SNEGNAQKPRPLYGAELSNLNCFSRAESKGCKEGYPCQDGMCGYCHHRRIKISNFSANLT
RSSSSESVDAVLSLSALSPEIKEAIQSVKYIAENMKAQNEAKEIQDDWKYVAMVIDRIFL
WVFTLVCILGTAGLFLQPLMAREDA

Sequence length

505

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Cholinergic synapse 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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amyotrophic lateral sclerosis	Likely pathogenic	rs2053207945, rs2053208751, rs2053501632, rs2053539304	RCV001095526 RCV001095527 RCV001095528 RCV001095529
SMOKING AS A QUANTITATIVE TRAIT LOCUS 3	Likely pathogenic	rs2141325372	RCV001535888
Urinary bladder, atony of	Likely pathogenic; Pathogenic	rs2141325372, rs2542813635, rs1596073421, rs200551904, rs199547652	RCV001535888 RCV002463880 RCV000993664 RCV000993665 RCV000993666

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CHRNA3-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs200681637, rs538193392, rs777582527	RCV003926729 RCV000991220 RCV000991221
Lung adenocarcinoma	Uncertain significance	rs2053051171	RCV003129695
Lung cancer susceptibility 2	Benign	rs1051730	RCV000019055
Ovarian serous cystadenocarcinoma	Benign	rs74381441	RCV005902954
Squamous cell carcinoma	Uncertain significance	rs2542839818	RCV003129645

Show/Hide Text Mining Associations (57)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	22722785, 24686516
Adenocarcinoma of Lung	Associate	24686516, 25233467, 28181565
Alcoholism	Associate	22438940, 24588897
alpha 1 Antitrypsin Deficiency	Associate	22356581
Alzheimer Disease	Associate	28553097
Anxiety	Associate	23689675
Asthma	Associate	27187070, 28873088
Autonomic Nervous System Diseases	Associate	31708116
Bipolar Disorder	Associate	23196875
Brain Diseases	Associate	34206324
Breast Neoplasms	Associate	25139936
Cakut	Associate	31708116
Carcinoma Non Small Cell Lung	Associate	19641473, 20234319, 22722785
Carcinoma Squamous Cell	Associate	21623257, 21645942, 22722785
Cardiovascular Diseases	Associate	26689306, 27015805, 30882151
Constipation	Associate	33947782
Coronary Artery Disease	Associate	28873088
Death	Associate	26689306
Emphysema	Associate	20656943, 21232152, 22356581, 28553097
Epileptic Syndromes	Associate	33947782
Esophageal Neoplasms	Associate	22430803
Esophageal Squamous Cell Carcinoma	Associate	27610024
Fetal Growth Retardation	Associate	22496830
Genetic Diseases Inborn	Associate	33947782
Glioma	Associate	24393335
Glycogen Storage Disease Type II	Associate	20360305
Glycogen Storage Disease Type IV	Associate	23349703, 24588897
Head and Neck Neoplasms	Associate	22430803
Heart Arrest	Associate	26689306
Hypertension	Associate	25874685
Hypotension Orthostatic	Associate	33947782
Intervertebral disc disease	Associate	31362771
Lung Diseases	Associate	22441734, 25072098
Lung Neoplasms	Associate	18385676, 18780872, 19010884, 19247474, 19300482, 19641473, 19706762, 20234319, 20332232, 20395203, 20554942, 20564069, 20584212, 20587604, 21559498 View all (26 more)
Lung Neoplasms	Inhibit	40197297
Lymphatic Metastasis	Associate	20234319
Melanoma	Associate	27344179
Miosis	Associate	33947782
Mouth Neoplasms	Associate	24505444
Myasthenia Gravis	Associate	30734484
Neoplasms	Associate	20332232, 22280835, 22945651, 25139936, 26689306, 28181565
Neuroblastoma	Associate	19460840
Oculocutaneous albinism type 2	Associate	22441734
Peripheral Arterial Disease	Associate	26689306, 34601942
Primary Dysautonomias	Associate	31708116
Pulmonary Disease Chronic Obstructive	Associate	19300482, 20564069, 20584212, 20656943, 21232152, 22356581, 22438921, 22438940, 22441734, 22461431, 23056235, 23255854, 23299987, 23349703, 25006744 View all (10 more)
Pupil Disorders	Associate	31708116
Renal Insufficiency	Associate	33947782
Rufous oculocutaneous albinism	Associate	22441734
Schizophrenia	Associate	20393456, 23196875, 29228394
Smoke Inhalation Injury	Associate	19247474, 21228559, 21436384, 23701534, 25948103, 29631575, 30498225, 31362771, 31721775
Spinocerebellar Ataxia Autosomal Recessive 2	Associate	19247474
Thymoma	Associate	30734484
Tobacco Use Disorder	Associate	19247474, 19641473, 19706762, 20584212, 21228559, 21232152, 22438940, 22441734, 22945651, 23029550, 23196875, 23689675, 24588897, 25139936, 25233467, 26689306, 26751916 View all (2 more)
Triple Negative Breast Neoplasms	Associate	20393456
Urinary Bladder Diseases	Associate	31708116
Urologic Diseases	Associate	31708116

CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit)