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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1136
Gene name Gene Name - the full gene name approved by the HGNC.	Cholinergic receptor nicotinic alpha 3 subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CHRNA3
Synonyms (NCBI Gene) Gene synonyms aliases	BAIPRCK, LNCR2, NACHRA3, PAOD2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	BAIPRCK
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q25.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
ASCL1	Unknown	20124469

Show/Hide all(39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27344019
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005892	Component	Acetylcholine-gated channel complex	IDA	8906617
GO:0006811	Process	Ion transport	NAS	8906617
GO:0006940	Process	Regulation of smooth muscle contraction	ISS
GO:0007165	Process	Signal transduction	IBA	21873635
GO:0007165	Process	Signal transduction	IDA	8906617
GO:0007171	Process	Activation of transmembrane receptor protein tyrosine kinase activity	ISS
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0007271	Process	Synaptic transmission, cholinergic	ISS
GO:0007399	Process	Nervous system development	IMP	11450844
GO:0007626	Process	Locomotory behavior	ISS
GO:0014056	Process	Regulation of acetylcholine secretion, neurotransmission	ISS
GO:0014069	Component	Postsynaptic density	ISS
GO:0015276	Function	Ligand-gated ion channel activity	TAS	20438829
GO:0015464	Function	Acetylcholine receptor activity	IDA	8906617
GO:0016021	Component	Integral component of membrane	NAS	8906617
GO:0022848	Function	Acetylcholine-gated cation-selective channel activity	IDA	8906617
GO:0022848	Function	Acetylcholine-gated cation-selective channel activity	ISS
GO:0022848	Function	Acetylcholine-gated cation-selective channel activity	TAS	20438829
GO:0030425	Component	Dendrite	ISS
GO:0030594	Function	Neurotransmitter receptor activity	IBA	21873635
GO:0034220	Process	Ion transmembrane transport	IBA	21873635
GO:0035095	Process	Behavioral response to nicotine	IMP	18227835
GO:0042166	Function	Acetylcholine binding	IC	8906617
GO:0042391	Process	Regulation of membrane potential	IBA	21873635
GO:0042391	Process	Regulation of membrane potential	ISS
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0043025	Component	Neuronal cell body	ISS
GO:0044853	Component	Plasma membrane raft	ISS
GO:0045202	Component	Synapse	IBA	21873635
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048814	Process	Regulation of dendrite morphogenesis	ISS
GO:0050877	Process	Nervous system process	IBA	21873635
GO:0060079	Process	Excitatory postsynaptic potential	ISS
GO:0060084	Process	Synaptic transmission involved in micturition	IMP	11450844
GO:0095500	Process	Acetylcholine receptor signaling pathway	ISS
GO:1905144	Process	Response to acetylcholine	ISS

MIM	HGNC	e!Ensembl
118503	1957	ENSG00000080644

Protein

UniProt ID

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 (7)

Disease term	Disease name	dbSNP ID	References
Causal
Congenital anomalies of kidney and urinary tract	Cakut	rs267606865, rs121908436, rs281875326, rs879255515, rs75462234, rs869320679, rs760905589, rs797045022, rs869320624, rs745597204, rs1114167358, rs1555879360, rs1577330805, rs1008555507	31708116
Dysautonomia	Dysautonomia	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086 View all (27 more)	31708116
Lung carcinoma	Squamous cell carcinoma of lung, Carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355 View all (44 more)	28604730, 29924316, 30104567, 18978787, 18978790
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370 View all (5 more)	19836008
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	18385676, 18385738, 19654303, 18978787, 22899653, 18978790
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	29483656, 26198764, 31268507, 25056061, 30285260, 28991256, 31374203, 28540026, 20393456
Seizure	Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061 View all (179 more)	15275829

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Evidence	References	Source
Unknown
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease		25101718, 25241909, 29767774, 26634245, 29631575, 30804561, 21921092, 24621683	ClinVar
Coronary heart disease	Coronary heart disease		21347282	ClinVar
Nasopharyngeal carcinoma	Nasopharyngeal carcinoma	These data suggest that KAT7 can contribute NPC cell growth and survival through up-regulation of NPC-essential genes.	20512145	ClinVar, CBGDA

Show/Hide Text Mining Associations (57)

Disease Name	Relationship Type	References
Associations from Text Mining
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)