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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1142
Gene name	Cholinergic receptor nicotinic beta 3 subunit
Gene symbol	CHRNB3
Synonyms (NCBI Gene)	-
Chromosome	8
Chromosome location	8p11.21
Summary	The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are (hetero)pentamers composed of homologous subunits. The subunits that make up the mus

Show/Hide all (19)

miRTarBase ID	miRNA	Experiments
MIRT892058	hsa-miR-1207-5p	CLIP-seq
MIRT892059	hsa-miR-1231	CLIP-seq
MIRT892060	hsa-miR-1909	CLIP-seq
MIRT892061	hsa-miR-3153	CLIP-seq
MIRT892062	hsa-miR-3192	CLIP-seq
MIRT892063	hsa-miR-3714	CLIP-seq
MIRT892064	hsa-miR-4314	CLIP-seq
MIRT892065	hsa-miR-4646-5p	CLIP-seq
MIRT892066	hsa-miR-4668-5p	CLIP-seq
MIRT892067	hsa-miR-4763-3p	CLIP-seq
MIRT892068	hsa-miR-940	CLIP-seq
MIRT1964368	hsa-miR-4719	CLIP-seq
MIRT2200492	hsa-miR-4639-3p	CLIP-seq
MIRT2200493	hsa-miR-4645-5p	CLIP-seq
MIRT2200494	hsa-miR-4660	CLIP-seq
MIRT2200495	hsa-miR-4673	CLIP-seq
MIRT2200496	hsa-miR-646	CLIP-seq
MIRT2386071	hsa-miR-2113	CLIP-seq
MIRT2386072	hsa-miR-562	CLIP-seq

Show/Hide all (43)

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:0005886	Component	Plasma membrane	IBA
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	11118490, 16835356
GO:0005892	Component	Acetylcholine-gated channel complex	IEA
GO:0005892	Component	Acetylcholine-gated channel complex	TAS	7690916
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007165	Process	Signal transduction	TAS	7690916
GO:0007271	Process	Synaptic transmission, cholinergic	IBA
GO:0007271	Process	Synaptic transmission, cholinergic	TAS	7690916
GO:0007274	Process	Neuromuscular synaptic transmission	IBA
GO:0015267	Function	Channel activity	TAS	7690916
GO:0015464	Function	Acetylcholine receptor activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	8906617
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IBA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	TAS	7690916
GO:0032991	Component	Protein-containing complex	IEA
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
GO:0035094	Process	Response to nicotine	IBA
GO:0042166	Function	Acetylcholine binding	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051899	Process	Membrane depolarization	IBA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0095500	Process	Acetylcholine receptor signaling pathway	IBA
GO:0097060	Component	Synaptic membrane	IEA
GO:0098691	Component	Dopaminergic synapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098878	Component	Neurotransmitter receptor complex	IDA	11118490, 16835356
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IBA
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IEA
GO:1901363	Function	Heterocyclic compound binding	IEA

MIM	HGNC	e!Ensembl
118508	1963	ENSG00000147432

Q05901

Protein name

Neuronal acetylcholine receptor subunit beta-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

8A5U

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	29 → 233	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	240 → 387	Neurotransmitter-gated ion-channel transmembrane region	Family
PF02932	Neur_chan_memb	355 → 446	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MLPDFMLVLIVLGIPSSATTGFNSIAENEDALLRHLFQGYQKWVRPVLHSNDTIKVYFGL
KISQLVDVDEKNQLMTTNVWLKQEWTDHKLRWNPDDYGGIHSIKVPSESLWLPDIVLFEN
ADGRFEGSLMTKVIVKSNGTVVWTPPASYKSSCTMDVTFFPFDRQNCSMKFGSWTYDGTM
VDLILINENVDRKDFFDNGEWEILNAKGMKGNRRDGVYSYPFITYSFVLRRLPLFYTLFL
IIPCLGLSFLTVLVFYLPSDEGEKLSLSTSVLVSLTVFLLVIEEIIPSSSKVIPLIGEYL
LFIMIFVTLSIIVTVFVINVHHRSSSTYHPMAPWVKRLFLQKLPKLLCMKDHVDRYSSPE
KEESQPVVKGKVLEKKKQKQLSDGEKVLVAFLEKAADSIRYISRHVKKEHFISQVVQDWK
FVAQVLDRIFLWLFLIVSVTGSVLIFTPALKMWLHSYH

Sequence length

458

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction		Highly calcium permeable postsynaptic nicotinic acetylcholine receptors Highly calcium permeable nicotinic acetylcholine receptors

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Alcoholism	Associate	28850771	★★★★★ ★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Associate	27085880	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Associate	23899432	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Associate	21191315	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cocaine Related Disorders	Associate	24675634	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Associate	10205274	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Associate	35069789	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	25233467	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	35618786	★★★★★ ★☆☆☆☆ Found in Text Mining only
Recombinant chromosome 8 syndrome	Associate	35618786	★★★★★ ★☆☆☆☆ Found in Text Mining only
Substance Related Disorders	Associate	27085880	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tobacco Use Disorder	Associate	19500157, 20584212, 28850771	★★★★★ ★☆☆☆☆ Found in Text Mining only

CHRNB3 (cholinergic receptor nicotinic beta 3 subunit)