CHRNB3 (cholinergic receptor nicotinic beta 3 subunit)

Gene

• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 118508
• HGNC: 1963
• e!Ensembl: ENSG00000147432

Protein

• UniProt ID: 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

Pathways

KEGG:

Neuroactive ligand-receptor interaction

Reactome:

Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
Highly calcium permeable nicotinic acetylcholine receptors

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Antisocial Personality Disorder	Antisocial personality disorder	Pubtator	27085880	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	23899432	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	23899432		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	19204725, 21191315, 24675634		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	21191315, 24675634		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	21191315	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of lung	Lung carcinoma	BEFREE	24792900, 27050379		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	19204725		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	10205274	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	10205274		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	35069789	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25233467	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24792900, 27050379		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26689306		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	19204725		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27050379		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35618786	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	24731518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	24792900		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25823894		★☆☆☆☆ Found in Text Mining only