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.	1141
Gene name Gene Name - the full gene name approved by the HGNC.	Cholinergic receptor nicotinic beta 2 subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CHRNB2
Synonyms (NCBI Gene) Gene synonyms aliases	EFNL3, nAChRB2
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q21.3
Summary Summary of gene provided in NCBI Entrez Gene.	Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in r

Show/Hide all(13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2072661	G>A	Drug-response	Non coding transcript variant, 3 prime UTR variant
rs74315291	G>A,C,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs112585933	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs144813907	C>G,T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs190374968	G>A,C,T	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs202079239	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs281865069	C>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs281865070	T>C	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs281865071	C>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, synonymous variant
rs281865072	T>A,G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs767533378	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs796052329	CAA>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, inframe deletion, non coding transcript variant, 5 prime UTR variant
rs1064796396	G>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant

Show/Hide all(174)

miRTarBase ID	miRNA	Experiments	Reference
MIRT496823	hsa-miR-6873-5p	PAR-CLIP	22291592
MIRT496822	hsa-miR-4292	PAR-CLIP	22291592
MIRT496821	hsa-miR-6791-5p	PAR-CLIP	22291592
MIRT496820	hsa-miR-3192-5p	PAR-CLIP	22291592
MIRT496819	hsa-miR-1291	PAR-CLIP	22291592
MIRT496818	hsa-miR-6775-3p	PAR-CLIP	22291592
MIRT496817	hsa-miR-6878-5p	PAR-CLIP	22291592
MIRT496816	hsa-miR-6731-5p	PAR-CLIP	22291592
MIRT496815	hsa-miR-8085	PAR-CLIP	22291592
MIRT496814	hsa-miR-30c-1-3p	PAR-CLIP	22291592
MIRT496813	hsa-miR-30c-2-3p	PAR-CLIP	22291592
MIRT496812	hsa-miR-6788-5p	PAR-CLIP	22291592
MIRT496811	hsa-miR-514b-5p	PAR-CLIP	22291592
MIRT738224	hsa-miR-4693-5p	HITS-CLIP	33718276
MIRT738225	hsa-miR-4318	HITS-CLIP	33718276
MIRT496823	hsa-miR-6873-5p	PAR-CLIP	22291592
MIRT496822	hsa-miR-4292	PAR-CLIP	22291592
MIRT496821	hsa-miR-6791-5p	PAR-CLIP	22291592
MIRT496820	hsa-miR-3192-5p	PAR-CLIP	22291592
MIRT496819	hsa-miR-1291	PAR-CLIP	22291592
MIRT496818	hsa-miR-6775-3p	PAR-CLIP	22291592
MIRT496817	hsa-miR-6878-5p	PAR-CLIP	22291592
MIRT496816	hsa-miR-6731-5p	PAR-CLIP	22291592
MIRT496815	hsa-miR-8085	PAR-CLIP	22291592
MIRT496814	hsa-miR-30c-1-3p	PAR-CLIP	22291592
MIRT496813	hsa-miR-30c-2-3p	PAR-CLIP	22291592
MIRT496812	hsa-miR-6788-5p	PAR-CLIP	22291592
MIRT496811	hsa-miR-514b-5p	PAR-CLIP	22291592
MIRT891988	hsa-miR-1	CLIP-seq
MIRT891989	hsa-miR-1184	CLIP-seq
MIRT891990	hsa-miR-1224-3p	CLIP-seq
MIRT891991	hsa-miR-1260	CLIP-seq
MIRT891992	hsa-miR-1260b	CLIP-seq
MIRT891993	hsa-miR-1269	CLIP-seq
MIRT891994	hsa-miR-1269b	CLIP-seq
MIRT891995	hsa-miR-1273f	CLIP-seq
MIRT891996	hsa-miR-1280	CLIP-seq
MIRT891997	hsa-miR-1285	CLIP-seq
MIRT891998	hsa-miR-1299	CLIP-seq
MIRT891999	hsa-miR-130a	CLIP-seq
MIRT892000	hsa-miR-130b	CLIP-seq
MIRT892001	hsa-miR-1321	CLIP-seq
MIRT892002	hsa-miR-148a	CLIP-seq
MIRT892003	hsa-miR-148b	CLIP-seq
MIRT892004	hsa-miR-150	CLIP-seq
MIRT892005	hsa-miR-152	CLIP-seq
MIRT892006	hsa-miR-1825	CLIP-seq
MIRT892007	hsa-miR-1976	CLIP-seq
MIRT892008	hsa-miR-19a	CLIP-seq
MIRT892009	hsa-miR-19b	CLIP-seq
MIRT892010	hsa-miR-206	CLIP-seq
MIRT892011	hsa-miR-301a	CLIP-seq
MIRT892012	hsa-miR-301b	CLIP-seq
MIRT892013	hsa-miR-3117-5p	CLIP-seq
MIRT892014	hsa-miR-3176	CLIP-seq
MIRT892015	hsa-miR-3187-5p	CLIP-seq
MIRT892016	hsa-miR-320e	CLIP-seq
MIRT892017	hsa-miR-3661	CLIP-seq
MIRT892018	hsa-miR-3666	CLIP-seq
MIRT892019	hsa-miR-3673	CLIP-seq
MIRT892020	hsa-miR-377	CLIP-seq
MIRT892021	hsa-miR-3922-3p	CLIP-seq
MIRT892022	hsa-miR-425	CLIP-seq
MIRT892023	hsa-miR-4252	CLIP-seq
MIRT892024	hsa-miR-4254	CLIP-seq
MIRT892025	hsa-miR-4256	CLIP-seq
MIRT892026	hsa-miR-4295	CLIP-seq
MIRT892027	hsa-miR-4421	CLIP-seq
MIRT892028	hsa-miR-4457	CLIP-seq
MIRT892029	hsa-miR-4529-3p	CLIP-seq
MIRT892030	hsa-miR-4534	CLIP-seq
MIRT892031	hsa-miR-454	CLIP-seq
MIRT892032	hsa-miR-4639-3p	CLIP-seq
MIRT892033	hsa-miR-4640-5p	CLIP-seq
MIRT892034	hsa-miR-4641	CLIP-seq
MIRT892035	hsa-miR-4686	CLIP-seq
MIRT892036	hsa-miR-4691-3p	CLIP-seq
MIRT738227	hsa-miR-4691-5p	CLIP-seq
MIRT892037	hsa-miR-4713-5p	CLIP-seq
MIRT892038	hsa-miR-4717-3p	CLIP-seq
MIRT892039	hsa-miR-4726-5p	CLIP-seq
MIRT892040	hsa-miR-4738-3p	CLIP-seq
MIRT892041	hsa-miR-4739	CLIP-seq
MIRT892042	hsa-miR-4756-3p	CLIP-seq
MIRT892043	hsa-miR-4756-5p	CLIP-seq
MIRT892044	hsa-miR-4757-5p	CLIP-seq
MIRT892045	hsa-miR-4802-5p	CLIP-seq
MIRT892046	hsa-miR-5096	CLIP-seq
MIRT892047	hsa-miR-513b	CLIP-seq
MIRT892048	hsa-miR-532-3p	CLIP-seq
MIRT892049	hsa-miR-612	CLIP-seq
MIRT892050	hsa-miR-613	CLIP-seq
MIRT892051	hsa-miR-619	CLIP-seq
MIRT892052	hsa-miR-627	CLIP-seq
MIRT892053	hsa-miR-631	CLIP-seq
MIRT892054	hsa-miR-671-5p	CLIP-seq
MIRT892055	hsa-miR-875-3p	CLIP-seq
MIRT892056	hsa-miR-890	CLIP-seq
MIRT738226	hsa-miR-892a	CLIP-seq
MIRT892057	hsa-miR-924	CLIP-seq
MIRT1964340	hsa-miR-1207-5p	CLIP-seq
MIRT1964341	hsa-miR-1228	CLIP-seq
MIRT1964342	hsa-miR-1238	CLIP-seq
MIRT892001	hsa-miR-1321	CLIP-seq
MIRT1964343	hsa-miR-2110	CLIP-seq
MIRT1964344	hsa-miR-2355-5p	CLIP-seq
MIRT1964345	hsa-miR-2467-3p	CLIP-seq
MIRT1964346	hsa-miR-3124-3p	CLIP-seq
MIRT1964347	hsa-miR-3126-5p	CLIP-seq
MIRT1964348	hsa-miR-3153	CLIP-seq
MIRT1964349	hsa-miR-3185	CLIP-seq
MIRT1964350	hsa-miR-3612	CLIP-seq
MIRT1964351	hsa-miR-3667-3p	CLIP-seq
MIRT1964352	hsa-miR-3977	CLIP-seq
MIRT1964353	hsa-miR-4271	CLIP-seq
MIRT1964354	hsa-miR-4276	CLIP-seq
MIRT1964355	hsa-miR-4297	CLIP-seq
MIRT1964356	hsa-miR-4313	CLIP-seq
MIRT1964357	hsa-miR-4443	CLIP-seq
MIRT1964358	hsa-miR-4447	CLIP-seq
MIRT1964359	hsa-miR-4472	CLIP-seq
MIRT892030	hsa-miR-4534	CLIP-seq
MIRT892034	hsa-miR-4641	CLIP-seq
MIRT1964360	hsa-miR-4725-3p	CLIP-seq
MIRT1964361	hsa-miR-4736	CLIP-seq
MIRT892041	hsa-miR-4739	CLIP-seq
MIRT892043	hsa-miR-4756-5p	CLIP-seq
MIRT1964362	hsa-miR-4763-3p	CLIP-seq
MIRT892045	hsa-miR-4802-5p	CLIP-seq
MIRT1964363	hsa-miR-491-5p	CLIP-seq
MIRT1964364	hsa-miR-510	CLIP-seq
MIRT1964365	hsa-miR-512-5p	CLIP-seq
MIRT1964366	hsa-miR-583	CLIP-seq
MIRT1964367	hsa-miR-650	CLIP-seq
MIRT2200475	hsa-miR-125a-5p	CLIP-seq
MIRT2200476	hsa-miR-125b	CLIP-seq
MIRT2200477	hsa-miR-145	CLIP-seq
MIRT2200478	hsa-miR-3140-3p	CLIP-seq
MIRT2200479	hsa-miR-329	CLIP-seq
MIRT2200480	hsa-miR-362-3p	CLIP-seq
MIRT2200481	hsa-miR-4267	CLIP-seq
MIRT2200482	hsa-miR-431	CLIP-seq
MIRT2200483	hsa-miR-4319	CLIP-seq
MIRT2200484	hsa-miR-4675	CLIP-seq
MIRT2200485	hsa-miR-4690-5p	CLIP-seq
MIRT2200486	hsa-miR-4711-3p	CLIP-seq
MIRT2200487	hsa-miR-4732-3p	CLIP-seq
MIRT2200488	hsa-miR-4741	CLIP-seq
MIRT2200489	hsa-miR-513a-3p	CLIP-seq
MIRT2200490	hsa-miR-587	CLIP-seq
MIRT2200491	hsa-miR-670	CLIP-seq
MIRT892004	hsa-miR-150	CLIP-seq
MIRT2386068	hsa-miR-1827	CLIP-seq
MIRT1964350	hsa-miR-3612	CLIP-seq
MIRT2386069	hsa-miR-432	CLIP-seq
MIRT1964357	hsa-miR-4443	CLIP-seq
MIRT892037	hsa-miR-4713-5p	CLIP-seq
MIRT892048	hsa-miR-532-3p	CLIP-seq
MIRT1964367	hsa-miR-650	CLIP-seq
MIRT892056	hsa-miR-890	CLIP-seq
MIRT2386070	hsa-miR-942	CLIP-seq
MIRT1964343	hsa-miR-2110	CLIP-seq
MIRT2447017	hsa-miR-3151	CLIP-seq
MIRT2447018	hsa-miR-34a	CLIP-seq
MIRT2447019	hsa-miR-34c-5p	CLIP-seq
MIRT1964353	hsa-miR-4271	CLIP-seq
MIRT2447020	hsa-miR-4302	CLIP-seq
MIRT2447021	hsa-miR-4436b-3p	CLIP-seq
MIRT1964358	hsa-miR-4447	CLIP-seq
MIRT1964359	hsa-miR-4472	CLIP-seq
MIRT2447022	hsa-miR-449a	CLIP-seq
MIRT2447023	hsa-miR-449b	CLIP-seq
MIRT1964360	hsa-miR-4725-3p	CLIP-seq
MIRT1964363	hsa-miR-491-5p	CLIP-seq

Show/Hide all(63)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IDA	12189247
GO:0005515	Function	Protein binding	IPI	8663494, 27344019, 29720657
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:0006816	Process	Calcium ion transport	ISS
GO:0006939	Process	Smooth muscle contraction	ISS
GO:0007165	Process	Signal transduction	IBA	21873635
GO:0007165	Process	Signal transduction	IDA	8906617
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0007271	Process	Synaptic transmission, cholinergic	ISS
GO:0007601	Process	Visual perception	ISS
GO:0007605	Process	Sensory perception of sound	ISS
GO:0007612	Process	Learning	IMP	15964197
GO:0007613	Process	Memory	IMP	15964197
GO:0007626	Process	Locomotory behavior	ISS
GO:0008306	Process	Associative learning	ISS
GO:0008542	Process	Visual learning	IMP	15964197
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:0016021	Component	Integral component of membrane	NAS	8906617
GO:0019233	Process	Sensory perception of pain	ISS
GO:0021562	Process	Vestibulocochlear nerve development	ISS
GO:0021631	Process	Optic nerve morphogenesis	ISS
GO:0021771	Process	Lateral geniculate nucleus development	ISS
GO:0021952	Process	Central nervous system projection neuron axonogenesis	ISS
GO:0022848	Function	Acetylcholine-gated cation-selective channel activity	IDA	8906617, 18387948
GO:0022848	Function	Acetylcholine-gated cation-selective channel activity	ISS
GO:0022848	Function	Acetylcholine-gated cation-selective channel activity	TAS	20438829
GO:0030594	Function	Neurotransmitter receptor activity	IBA	21873635
GO:0030890	Process	Positive regulation of B cell proliferation	ISS
GO:0032225	Process	Regulation of synaptic transmission, dopaminergic	ISS
GO:0033603	Process	Positive regulation of dopamine secretion	ISS
GO:0034220	Process	Ion transmembrane transport	IBA	21873635
GO:0035094	Process	Response to nicotine	IDA	12189247
GO:0035095	Process	Behavioral response to nicotine	IMP	17559419
GO:0035176	Process	Social behavior	ISS
GO:0042053	Process	Regulation of dopamine metabolic process	ISS
GO:0042113	Process	B cell activation	ISS
GO:0042166	Function	Acetylcholine binding	IC	8906617
GO:0042166	Function	Acetylcholine binding	IMP	15964197
GO:0042220	Process	Response to cocaine	ISS
GO:0042320	Process	Regulation of circadian sleep/wake cycle, REM sleep	ISS
GO:0042391	Process	Regulation of membrane potential	IBA	21873635
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0044853	Component	Plasma membrane raft	ISS
GO:0045202	Component	Synapse	IBA	21873635
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045471	Process	Response to ethanol	ISS
GO:0045759	Process	Negative regulation of action potential	ISS
GO:0048814	Process	Regulation of dendrite morphogenesis	ISS
GO:0050877	Process	Nervous system process	IBA	21873635
GO:0050877	Process	Nervous system process	IMP	17900292
GO:0050890	Process	Cognition	IMP	17559419
GO:0051899	Process	Membrane depolarization	ISS
GO:0051963	Process	Regulation of synapse assembly	ISS
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0060084	Process	Synaptic transmission involved in micturition	ISS
GO:0095500	Process	Acetylcholine receptor signaling pathway	ISS
GO:1905144	Process	Response to acetylcholine	ISS

MIM	HGNC	e!Ensembl
118507	1962	ENSG00000160716

Protein

UniProt ID

P17787

Protein name

Neuronal acetylcholine receptor subunit beta-2

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

2K58 , 2K59 , 2KSR , 2LM2 , 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	29 → 234	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	241 → 478	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MARRCGPVALLLGFGLLRLCSGVWGTDTEERLVEHLLDPSRYNKLIRPATNGSELVTVQL
MVSLAQLISVHEREQIMTTNVWLTQEWEDYRLTWKPEEFDNMKKVRLPSKHIWLPDVVLY
NNADGMYEVSFYSNAVVSYDGSIFWLPPAIYKSACKIEVKHFPFDQQNCTMKFRSWTYDR
TEIDLVLKSEVASLDDFTPSGEWDIVALPGRRNENPDDSTYVDITYDFIIRRKPLFYTIN
LIIPCVLITSLAILVFYLPSDCGEKMTLCISVLLALTVFLLLISKIVPPTSLDVPLVGKY
LMFTMVLVTFSIVTSVCVLNVHHRSPTTHTMAPWVKVVFLEKLPALLFMQQPRHHCARQR
LRLRRRQREREGAGALFFREAPGADSCTCFVNRASVQGLAGAFGAEPAPVAGPGRSGEPC
GCGLREAVDGVRFIADHMRSEDDDQSVSEDWKYVAMVIDRLFLWIFVFVCVFGTIGMFLQ
PLFQNYTTTTFLHSDHSAPSSK

Sequence length

502

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 (6)

Disease term	Disease name	dbSNP ID	References
Causal
Alzheimer disease	Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039 View all (65 more)	17192785
Attention deficit hyperactivity disorder	Attention Deficit Disorder, Attention deficit hyperactivity disorder	rs786205019	21748252
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)	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 3	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670 View all (165 more)	14996991, 11094099, 11062464, 11104662
Nocturnal epilepsy	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy	rs74315291, rs121909580, rs28931591, rs104894063, rs397515405, rs397515406, rs397515407, rs281865067, rs281865070, rs397518459, rs201740530, rs886037653, rs587777264, rs797044544, rs1554771469 View all (3 more)	11062464
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	18762859, 16636791

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Evidence	Source
Unknown
Nocturnal Epilepsy	autosomal dominant nocturnal frontal lobe epilepsy 3, autosomal dominant nocturnal frontal lobe epilepsy		GenCC
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.	GWAS, CBGDA

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text Mining
Alzheimer Disease	Stimulate	18830724
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Associate	11952766, 17385675, 17900292, 22036597
Cholangitis Sclerosing	Associate	38302916
Cognition Disorders	Associate	22036597
Colitis Ulcerative	Associate	38302916
Epilepsy	Associate	21204805
Epileptic Syndromes	Associate	17385675
Intellectual Disability	Associate	22036597
Schizophrenia	Associate	22036597

CHRNB2 (cholinergic receptor nicotinic beta 2 subunit)