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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1143
Gene name	Cholinergic receptor nicotinic beta 4 subunit
Gene symbol	CHRNB4
Synonyms (NCBI Gene)	-
Chromosome	15
Chromosome location	15q25.1
Summary	This gene is found within a conserved gene cluster and encodes one of the beta subunits of the nicotinic acetylcholine receptor (nAChRs) superfamily which form ligand-gated ion channels with a central pore that forms a cation channel. Neuronal nAChRs are

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018694	hsa-miR-335-5p	Microarray	18185580
MIRT892069	hsa-miR-1262	CLIP-seq
MIRT892070	hsa-miR-1293	CLIP-seq
MIRT892071	hsa-miR-1304	CLIP-seq
MIRT892072	hsa-miR-2054	CLIP-seq
MIRT892073	hsa-miR-3065-5p	CLIP-seq
MIRT892074	hsa-miR-3122	CLIP-seq
MIRT892075	hsa-miR-3162-5p	CLIP-seq
MIRT892076	hsa-miR-3665	CLIP-seq
MIRT892077	hsa-miR-3689a-3p	CLIP-seq
MIRT892078	hsa-miR-3689c	CLIP-seq
MIRT892079	hsa-miR-3913-5p	CLIP-seq
MIRT892080	hsa-miR-3926	CLIP-seq
MIRT892081	hsa-miR-4433	CLIP-seq
MIRT892082	hsa-miR-4459	CLIP-seq
MIRT892083	hsa-miR-4483	CLIP-seq
MIRT892084	hsa-miR-4493	CLIP-seq
MIRT892085	hsa-miR-4701-3p	CLIP-seq
MIRT892086	hsa-miR-4728-5p	CLIP-seq
MIRT892087	hsa-miR-4736	CLIP-seq
MIRT892088	hsa-miR-4747-5p	CLIP-seq
MIRT892089	hsa-miR-4757-5p	CLIP-seq
MIRT892090	hsa-miR-4768-3p	CLIP-seq
MIRT892091	hsa-miR-500a	CLIP-seq
MIRT892092	hsa-miR-509-3p	CLIP-seq
MIRT892093	hsa-miR-548s	CLIP-seq
MIRT892094	hsa-miR-579	CLIP-seq
MIRT892095	hsa-miR-876-3p	CLIP-seq
MIRT1964369	hsa-miR-1827	CLIP-seq
MIRT892072	hsa-miR-2054	CLIP-seq
MIRT892074	hsa-miR-3122	CLIP-seq
MIRT1964370	hsa-miR-34b	CLIP-seq
MIRT1964371	hsa-miR-3545-3p	CLIP-seq
MIRT1964372	hsa-miR-3614-5p	CLIP-seq
MIRT892077	hsa-miR-3689a-3p	CLIP-seq
MIRT892078	hsa-miR-3689c	CLIP-seq
MIRT892079	hsa-miR-3913-5p	CLIP-seq
MIRT1964373	hsa-miR-4722-5p	CLIP-seq
MIRT892086	hsa-miR-4728-5p	CLIP-seq
MIRT892090	hsa-miR-4768-3p	CLIP-seq
MIRT892091	hsa-miR-500a	CLIP-seq
MIRT1964374	hsa-miR-661	CLIP-seq
MIRT1964375	hsa-miR-940	CLIP-seq
MIRT2200497	hsa-miR-106a	CLIP-seq
MIRT2200498	hsa-miR-106b	CLIP-seq
MIRT2200499	hsa-miR-1178	CLIP-seq
MIRT892071	hsa-miR-1304	CLIP-seq
MIRT2200500	hsa-miR-15a	CLIP-seq
MIRT2200501	hsa-miR-15b	CLIP-seq
MIRT2200502	hsa-miR-16	CLIP-seq
MIRT2200503	hsa-miR-17	CLIP-seq
MIRT1964369	hsa-miR-1827	CLIP-seq
MIRT2200504	hsa-miR-1912	CLIP-seq
MIRT2200505	hsa-miR-195	CLIP-seq
MIRT892072	hsa-miR-2054	CLIP-seq
MIRT2200506	hsa-miR-20a	CLIP-seq
MIRT2200507	hsa-miR-20b	CLIP-seq
MIRT2200508	hsa-miR-24	CLIP-seq
MIRT892074	hsa-miR-3122	CLIP-seq
MIRT2200509	hsa-miR-342-3p	CLIP-seq
MIRT1964370	hsa-miR-34b	CLIP-seq
MIRT1964372	hsa-miR-3614-5p	CLIP-seq
MIRT892076	hsa-miR-3665	CLIP-seq
MIRT2200510	hsa-miR-3677-5p	CLIP-seq
MIRT892077	hsa-miR-3689a-3p	CLIP-seq
MIRT892078	hsa-miR-3689c	CLIP-seq
MIRT2200511	hsa-miR-371b-3p	CLIP-seq
MIRT892079	hsa-miR-3913-5p	CLIP-seq
MIRT2200512	hsa-miR-3919	CLIP-seq
MIRT892080	hsa-miR-3926	CLIP-seq
MIRT2200513	hsa-miR-424	CLIP-seq
MIRT2200514	hsa-miR-4284	CLIP-seq
MIRT2200515	hsa-miR-4690-3p	CLIP-seq
MIRT2200516	hsa-miR-4699-3p	CLIP-seq
MIRT1964373	hsa-miR-4722-5p	CLIP-seq
MIRT892086	hsa-miR-4728-5p	CLIP-seq
MIRT892087	hsa-miR-4736	CLIP-seq
MIRT2200517	hsa-miR-4756-3p	CLIP-seq
MIRT892090	hsa-miR-4768-3p	CLIP-seq
MIRT2200518	hsa-miR-497	CLIP-seq
MIRT892091	hsa-miR-500a	CLIP-seq
MIRT2200519	hsa-miR-519d	CLIP-seq
MIRT2200520	hsa-miR-520g	CLIP-seq
MIRT2200521	hsa-miR-520h	CLIP-seq
MIRT2200522	hsa-miR-545	CLIP-seq
MIRT892093	hsa-miR-548s	CLIP-seq
MIRT892094	hsa-miR-579	CLIP-seq
MIRT2200523	hsa-miR-890	CLIP-seq
MIRT2200524	hsa-miR-93	CLIP-seq
MIRT1964375	hsa-miR-940	CLIP-seq
MIRT892071	hsa-miR-1304	CLIP-seq
MIRT1964369	hsa-miR-1827	CLIP-seq
MIRT892072	hsa-miR-2054	CLIP-seq
MIRT892074	hsa-miR-3122	CLIP-seq
MIRT1964370	hsa-miR-34b	CLIP-seq
MIRT2386073	hsa-miR-3607-3p	CLIP-seq
MIRT1964372	hsa-miR-3614-5p	CLIP-seq
MIRT2386074	hsa-miR-3686	CLIP-seq
MIRT892077	hsa-miR-3689a-3p	CLIP-seq
MIRT892078	hsa-miR-3689c	CLIP-seq
MIRT892079	hsa-miR-3913-5p	CLIP-seq
MIRT2386075	hsa-miR-4486	CLIP-seq
MIRT1964373	hsa-miR-4722-5p	CLIP-seq
MIRT892086	hsa-miR-4728-5p	CLIP-seq
MIRT892090	hsa-miR-4768-3p	CLIP-seq
MIRT892091	hsa-miR-500a	CLIP-seq
MIRT1964374	hsa-miR-661	CLIP-seq
MIRT2200523	hsa-miR-890	CLIP-seq
MIRT1964375	hsa-miR-940	CLIP-seq
MIRT2447024	hsa-miR-1246	CLIP-seq
MIRT1964369	hsa-miR-1827	CLIP-seq
MIRT2447025	hsa-miR-186	CLIP-seq
MIRT892072	hsa-miR-2054	CLIP-seq
MIRT892074	hsa-miR-3122	CLIP-seq
MIRT1964370	hsa-miR-34b	CLIP-seq
MIRT1964372	hsa-miR-3614-5p	CLIP-seq
MIRT892077	hsa-miR-3689a-3p	CLIP-seq
MIRT892078	hsa-miR-3689c	CLIP-seq
MIRT892079	hsa-miR-3913-5p	CLIP-seq
MIRT2386075	hsa-miR-4486	CLIP-seq
MIRT2447026	hsa-miR-4649-5p	CLIP-seq
MIRT1964373	hsa-miR-4722-5p	CLIP-seq
MIRT892086	hsa-miR-4728-5p	CLIP-seq
MIRT892090	hsa-miR-4768-3p	CLIP-seq
MIRT892091	hsa-miR-500a	CLIP-seq
MIRT1964374	hsa-miR-661	CLIP-seq
MIRT1964375	hsa-miR-940	CLIP-seq
MIRT1964369	hsa-miR-1827	CLIP-seq
MIRT892072	hsa-miR-2054	CLIP-seq
MIRT892074	hsa-miR-3122	CLIP-seq
MIRT892077	hsa-miR-3689a-3p	CLIP-seq
MIRT892078	hsa-miR-3689c	CLIP-seq
MIRT892079	hsa-miR-3913-5p	CLIP-seq
MIRT892086	hsa-miR-4728-5p	CLIP-seq
MIRT892091	hsa-miR-500a	CLIP-seq
MIRT892072	hsa-miR-2054	CLIP-seq
MIRT892074	hsa-miR-3122	CLIP-seq
MIRT892077	hsa-miR-3689a-3p	CLIP-seq
MIRT892078	hsa-miR-3689c	CLIP-seq
MIRT892079	hsa-miR-3913-5p	CLIP-seq
MIRT892086	hsa-miR-4728-5p	CLIP-seq
MIRT892091	hsa-miR-500a	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
ASCL1	Unknown	20124469
SP1	Unknown	10771000
SP3	Unknown	10771000

Show/Hide all (59)

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	27344019, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IC	11742001
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, 16835356, 20881005, 24467848, 31488329
GO:0005892	Component	Acetylcholine-gated channel complex	IEA
GO:0005892	Component	Acetylcholine-gated channel complex	ISS
GO:0005892	Component	Acetylcholine-gated channel complex	TAS	11742001
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	TAS	8906617
GO:0006939	Process	Smooth muscle contraction	IEA
GO:0006940	Process	Regulation of smooth muscle contraction	IEA
GO:0007165	Process	Signal transduction	IDA	8906617
GO:0007271	Process	Synaptic transmission, cholinergic	TAS	1330682
GO:0007626	Process	Locomotory behavior	IEA
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	TAS	20438829
GO:0015464	Function	Acetylcholine receptor activity	IBA
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:0019228	Process	Neuronal action potential	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IBA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IDA	18387948
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	TAS	8906617, 11742001, 20438829
GO:0034220	Process	Monoatomic ion transmembrane transport	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034703	Component	Cation channel complex	IDA	11118490, 16835356, 20881005, 24467848, 31488329
GO:0034703	Component	Cation channel complex	ISS
GO:0035094	Process	Response to nicotine	IEA
GO:0035095	Process	Behavioral response to nicotine	IEA
GO:0035579	Component	Specific granule membrane	TAS
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046928	Process	Regulation of neurotransmitter secretion	NAS	11742001
GO:0051899	Process	Membrane depolarization	IBA
GO:0051971	Process	Positive regulation of transmission of nerve impulse	IEA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0060084	Process	Synaptic transmission involved in micturition	IBA
GO:0060084	Process	Synaptic transmission involved in micturition	IEA
GO:0060084	Process	Synaptic transmission involved in micturition	IMP	11450844
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0095500	Process	Acetylcholine receptor signaling pathway	IBA
GO:0097060	Component	Synaptic membrane	IEA
GO:0098878	Component	Neurotransmitter receptor complex	IDA	11118490, 16835356, 20881005, 24467848, 31488329
GO:0098878	Component	Neurotransmitter receptor complex	ISS
GO:0098981	Component	Cholinergic synapse	IEA
GO:0099634	Component	Postsynaptic specialization membrane	IEA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA

MIM	HGNC	e!Ensembl
118509	1964	ENSG00000117971

P30926

Protein name

Neuronal acetylcholine receptor subunit beta-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

6PV7 , 6PV8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	27 → 232	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	239 → 478	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MRRAPSLVLFFLVALCGRGNCRVANAEEKLMDDLLNKTRYNNLIRPATSSSQLISIKLQL
SLAQLISVNEREQIMTTNVWLKQEWTDYRLTWNSSRYEGVNILRIPAKRIWLPDIVLYNN
ADGTYEVSVYTNLIVRSNGSVLWLPPAIYKSACKIEVKYFPFDQQNCTLKFRSWTYDHTE
IDMVLMTPTASMDDFTPSGEWDIVALPGRRTVNPQDPSYVDVTYDFIIKRKPLFYTINLI
IPCVLTTLLAILVFYLPSDCGEKMTLCISVLLALTFFLLLISKIVPPTSLDVPLIGKYLM
FTMVLVTFSIVTSVCVLNVHHRSPSTHTMAPWVKRCFLHKLPTFLFMKRPGPDSSPARAF
PPSKSCVTKPEATATSTSPSNFYGNSMYFVNPASAASKSPAGSTPVAIPRDFWLRSSGRF
RQDVQEALEGVSFIAQHMKNDDEDQSVVEDWKYVAMVVDRLFLWVFMFVCVLGTVGLFLP
PLFQTHAASEGPYAAQRD

Sequence length

498

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 Neutrophil degranulation

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Frontotemporal dementia	Likely pathogenic	rs2141385401, rs774714066	RCV001848608 RCV001848609

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Amyotrophic lateral sclerosis	Benign; Uncertain significance	rs56317523, rs148540431, rs548549089	RCV001095407 RCV001095408 RCV001095409
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs780934865	RCV004558124
Lung adenocarcinoma	Uncertain significance	rs2542849908	RCV003129708

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alcoholism	Associate	22438940
Anxiety	Associate	23689675
Brain Diseases	Associate	34206324
Cardiovascular Diseases	Associate	26689306, 30882151
Death	Associate	26689306
Epilepsy Rolandic	Associate	32580138
Esophageal Squamous Cell Carcinoma	Associate	27610024
Heart Arrest	Associate	26689306
Laryngeal Neoplasms	Associate	37875354
Lung Diseases	Associate	25072098
Lung Neoplasms	Associate	18780872, 19443489, 19706762, 20584212, 20587604, 21586512, 21747048, 22438940, 22945651, 23029550, 23094028, 23591849, 25072098, 26352532, 26689306 View all (5 more)
Neoplasms	Associate	22945651, 26689306
Peripheral Arterial Disease	Associate	26689306
Precancerous Conditions	Associate	23591849
Pulmonary Disease Chronic Obstructive	Associate	20584212, 22438940, 25072098, 26689306, 27462996, 33106845
Schizophrenia	Associate	29228394
Smoke Inhalation Injury	Associate	21228559, 21436384, 22438940, 25948103
Substance Related Disorders	Associate	22438940
Tobacco Use Disorder	Associate	19706762, 20584212, 21228559, 22438940, 22945651, 23029550, 26689306, 34206324

CHRNB4 (cholinergic receptor nicotinic beta 4 subunit)