CHRNB4 - cholinergic receptor nicotinic beta 4 subunit Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1143

About CHRNB4

Cytogenetic location: 15q25.1 Genomic coordinates (GRCh38): 15:78,624,111-78,661,641 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues and 45 paralogues. Biased expression in testis (RPKM 1.1), adrenal (RPKM 0.6) and 7 other tissues.

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 pentameric structures that can be either homomeric or heteromeric, with heteromeric structures containing both alpha and beta subunits. Each subunit contains an extracellular amino terminus and four transmembrane domains. Nicotine is one of the agonists that binds to the receptor. Variants in this gene have been associated with nicotine dependence and lung Cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2017]

CHRNB4 Products (2)

mRNA	Protein	Name
NM_000750.5	NP_000741.1	neuronal acetylcholine receptor subunit beta-4 isoform 1 precursor
NM_001256567.3	NP_001243496.1	neuronal acetylcholine receptor subunit beta-4 isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables acetylcholine receptor activity	IDA IDA: Inferred from direct assay	8906617	GOA
enables acetylcholine-gated monoatomic cation-selective channel activity	IDA IDA: Inferred from direct assay	18387948	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	27344019	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in signal transduction	IDA IDA: Inferred from direct assay	8906617	GOA
involved in synaptic transmission involved in micturition	IMP IMP: Inferred from mutant phenotype	11450844	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of acetylcholine-gated channel complex	IDA IDA: Inferred from direct assay	8906617	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHRNB4 Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
498 a.a.

Protein Preferred Names	Protein Names
neuronal acetylcholine receptor subunit beta-4	acetylcholine receptor, nicotinic, beta 4 (neuronal)

CHRNB4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CHRNB4	P30926	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	CHRNB4	P30926	MEOX2	Homo sapiens	Q6FHY5	Validated Y2H	32296183
Intra	CHRNB4	P30926	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

CHRNB4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84250	CHRNB4 Antibody (YA3947)	ICC/IF, FC, ELISA	Human
HY-P84250A	CHRNB4 Antibody (YA3947)(PBS only)	ICC/IF, FC, ELISA	Human

Related Diseases

Diseases	Alias
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
Tobacco Addiction	Nicotine Dependence Tobacco Addiction, Susceptibility To Nicotine Addiction Tobacco Use Disorder Smoking Habit Nicotine Dependence, Protection Against Nicotine Addiction, Protection From Cigarette Habituation Cigarette Habituation, Susceptibility To Smoking Habit, Susceptibility To Nicotine Dependence, Susceptibility To Nicotine Addiction, Susceptibility To Addiction, Tobacco, Susceptibility To Compulsive Tobacco User Syndrome Tobacco Dependence Tobacco Dependence Syndrome Cigarette Addiction Cigarette Dependence Smoking Addiction Smokers Syndrome
Substance Dependence
Cocaine Dependence
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Adnfle Autosomal Dominant Sleep-Related Hypermotor Epilepsy Enfl Benign Familial Infantile Seizures 6 Benign Familial Infantile Seizures, 6 Nocturnal Frontal Lobe Epilepsy-4 Enfl1 Epilepsy, Nocturnal Frontal Lobe, 1 Epilepsy, Nocturnal Frontal Lobe, Type 1
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
Drug Dependence
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Berdon Syndrome MMIHS Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Megacystis, Microcolon, Hypoperistalsis Syndrome Visceral Myopathy Mmih Syndrome Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome MMIHS1 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih Mmhs

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02677	CHRNB4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CHRNB4	MGD	MGI:87892
Rattus norvegicus	CHRNB4	RGD	RGD:2351
Macaca mulatta	CHRNB4	VGNC	VGNC:104701
Felis catus	CHRNB4	VGNC	VGNC:60886
Canis familiaris	CHRNB4	VGNC	VGNC:39245
Bos taurus	CHRNB4	VGNC	VGNC:27333