1. Gene
  2. CHRNB3 - cholinergic receptor nicotinic beta 3 subunit Gene

CHRNB3 - cholinergic receptor nicotinic beta 3 subunit Gene

Homo sapiens
Gene ID: 1142 | Gene type: protein coding

About CHRNB3

Cytogenetic location: 8p11.21 Genomic coordinates (GRCh38): 8:42,697,366-42,737,407 (from NCBI)

This gene has 3 transcripts (splice variants), 265 orthologues and 45 paralogues. Low expression observed in reference dataset.

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 muscle and neuronal forms of nAChRs are encoded by separate genes and have different primary structure. There are several subtypes of neuronal nAChRs that vary based on which homologous subunits are arranged around the central channel. They are classified as alpha-subunits if, like muscle alpha-1 (MIM 100690), they have a pair of adjacent cysteines as part of the presumed acetylcholine binding site. Subunits lacking these cysteine residues are classified as beta-subunits (Groot Kormelink and Luyten, 1997 [PubMed 9009220]). Elliott et al. (1996) [PubMed 8906617] stated that the proposed structure for each subunit is a conserved N-terminal extracellular domain followed by 3 conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region.[supplied by OMIM, Apr 2010]

CHRNB3 Products(2)

mRNA Protein Name
NM_000749.5 NP_000740.1 neuronal acetylcholine receptor subunit beta-3 isoform 1 precursor
NM_001347717.2 NP_001334646.1 neuronal acetylcholine receptor subunit beta-3 isoform 2

CHRNB3 Protein Structure

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (29 - 232)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (240 - 446)

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  • 458 a.a.
Protein Preferred Names Protein Names

neuronal acetylcholine receptor subunit beta-3

acetylcholine receptor, neuronal nicotinic, beta-3 subunit

Recombinant CHRNB3 Proteins

Cat. No. Product Name Accession Purity
HY-P70056 CHRNB3 Protein, Human (HEK293, His) Q05901 (I25-L232) ≥95%

Related Diseases

Diseases Alias
Duane Retraction Syndrome

Stilling-Turk-Duane Syndrome

Duane'S Syndrome

Duane Syndrome

Isolated Duane Retraction Syndrome

Co-Contractive Retraction Syndrome

Duane Anomaly, Isolated

Ocular Retraction Syndrome

Drs

Durs

Compensatory Emphysema
Dystonia 6, Torsion

DYT6

Torsion Dystonia 6

Dystonia 6

Idiopathic Torsion Dystonia Of Mixed Type

Primary Dystonia, Dyt6 Type

Torsion Dystonia, Adult-Onset, Mixed Type

Dyt-Thap1

Adolescent-Onset Dystonia Of Mixed Type

Torsion Dystonia Adult Onset Mixed Type

Dyt6 Dystonia

Thap1 Dystonia

Generalized Cervical And Upper-Limb-Onset Dystonia

Adult-Onset Torsion Dystonia Mixed Type

Autosomal Dominant Torsion Dystonia 6

Dystonia-6

Torsion Dystonia Type 6

Dystonia, Type 6, Torsion

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

Cocaine Dependence
Substance Dependence
Drug 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

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

Orthologs Information

Species Symbol Source ID
Canis familiaris CHRNB3 VGNC VGNC:39244
Rattus norvegicus CHRNB3 RGD RGD:621544
Felis catus CHRNB3 VGNC VGNC:60885
Bos taurus CHRNB3 VGNC VGNC:27332
Mus musculus CHRNB3 MGD MGI:106212
Macaca mulatta CHRNB3 VGNC VGNC:104445
Others CHRNB3 NCBI