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CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit)

Gene

1137

Cholinergic receptor nicotinic alpha 4 subunit

CHRNA4

BFNC, EBN, EBN1, NACHR, NACHRA4, NACRA4

20q13.33

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	Reference
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(46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	ISS
GO:0001666	Process	Response to hypoxia	IDA	12189247
GO:0005515	Function	Protein binding	IPI	16238698, 27344019, 32814053
GO:0005886	Component	Plasma membrane	ISS
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:0006281	Process	DNA repair	IMP	16332175
GO:0006811	Process	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	IBA	21873635
GO:0007165	Process	Signal transduction	IDA	8906617
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0007268	Process	Chemical synaptic transmission	NAS	7550350
GO:0007271	Process	Synaptic transmission, cholinergic	IBA	21873635
GO:0007271	Process	Synaptic transmission, cholinergic	ISS
GO:0009897	Component	External side of plasma membrane	ISS
GO:0014059	Process	Regulation of dopamine secretion	ISS
GO:0015276	Function	Ligand-gated ion channel activity	TAS	20438829
GO:0015464	Function	Acetylcholine receptor activity	IDA	8906617
GO:0016020	Component	Membrane	ISS
GO:0016021	Component	Integral component of membrane	NAS	8906617
GO:0019233	Process	Sensory perception of pain	ISS
GO:0022848	Function	Acetylcholine-gated cation-selective channel activity	IDA	8906617
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:0035094	Process	Response to nicotine	IBA	21873635
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	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:0045202	Component	Synapse	IBA	21873635
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0050877	Process	Nervous system process	IBA	21873635
GO:0050877	Process	Nervous system process	IMP	7550350, 17613539
GO:0050890	Process	Cognition	IMP	14623738
GO:0051899	Process	Membrane depolarization	ISS
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0060080	Process	Inhibitory postsynaptic potential	ISS

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

Associated diseases

Show/Hide Causal Diseases (6)

Causal
Disease name	Disease term	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention Deficit Disorder, Attention deficit hyperactivity disorder	rs120074176, rs786205019	21748252
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	15046869
Epilepsy	Epilepsy, Frontal Lobe, Frontal Epilepsy, Benign, Childhood, Epilepsy, Supplementary Motor, Epilepsy, Cingulate, Epilepsy, Opercular, Epilepsy, Anterior Fronto-Polar, Epilepsy, Orbito-Frontal, Epilepsy, Nocturnal Frontal Lobe, Type 4, Epilepsy, Nocturnal Frontal Lobe, Type 1, Epilepsy, Nocturnal Frontal Lobe, Type 3	rs113994140, rs119454947, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs1805032, rs387906420, rs121917752, rs121918622, rs121434579, rs1581220270, rs281865564, rs387907313, rs397514564, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777363, rs587777364, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs1554169267, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	14996991, 12823585, 17881519, 12823585, 14996991, 17881519, 14996991, 17881519, 12823585, 17881519, 14996991, 12823585, 12823585, 17881519, 14996991, 17881519, 12823585, 14996991, 7647781, 14623738, 7550350, 10563623
Nocturnal epilepsy	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	rs74315291, rs121909580, rs28931591, rs104894063, rs397515405, rs397515406, rs397515407, rs281865067, rs281865070, rs397518459, rs201740530, rs886037653, rs587777264, rs797044544, rs1554771469, rs1554514507, rs1588385233, rs2092986219	7550350, 22118295, 10563623, 10939581, 12887446, 19237585
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	17884806, 21368748, 20817066, 21979958
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, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130	16339034, 10942032, 10942032, 16339034

Show/Hide Unknown Diseases (11)

Unknown
Disease name	Disease term	dbSNP ID	References
Acth deficiency	ACTH Deficiency, Isolated
Clonic seizures	Clonic Seizures		10942032, 16339034
Development disorder	Developmental Disabilities, Child Development Deviations, Child Development Disorders, Specific		20805988
Hypotonic seizures	Epileptic drop attack		16339034, 10942032
Jacksonian seizure	Jacksonian Seizure		10942032, 16339034
Mental depression	Mental Depression, Depressive disorder	rs587778876, rs587778877	22760121, 22008229, 18690103, 22760121, 18690103, 22008229
Minimal brain dysfunction	Minimal Brain Dysfunction		21748252
Nervous system disorder	nervous system disorder		20805988
Short sleeper syndromes	Short Sleeper Syndrome		16339034
Sleep disorders	Sleep Disorders		16339034
Sleep wake disorders	Sleep Wake Disorders		16339034

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