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CHRNB3 cholinergic receptor nicotinic beta 3 subunit [ Homo sapiens (human) ]

Gene ID: 1142, updated on 2-Mar-2021

Summary

Official Symbol
CHRNB3provided by HGNC
Official Full Name
cholinergic receptor nicotinic beta 3 subunitprovided by HGNC
Primary source
HGNC:HGNC:1963
See related
Ensembl:ENSG00000147432 MIM:118508
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See CHRNB3 in Genome Data Viewer
Location:
8p11.21
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (42697366..42737407)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (42552509..42592550)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene voltage dependent anion channel 3 Neighboring gene solute carrier family 20 member 2 Neighboring gene small integral membrane protein 19 Neighboring gene uncharacterized LOC105379396 Neighboring gene ribosomal protein L7 like 1 pseudogene Neighboring gene cholinergic receptor nicotinic alpha 6 subunit Neighboring gene THAP domain containing 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
CHRNB3 is more strongly associated with Fagerström test for cigarette dependence-based nicotine dependence than cigarettes per day: phenotype definition changes genome-wide association studies results.
GeneReviews: Not available
Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetylcholine binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to acetylcholine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acetylcholine-gated cation-selective channel activity IEA
Inferred from Electronic Annotation
more info
 
channel activity TAS
Traceable Author Statement
more info
PubMed 
neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to nicotine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic transmission, cholinergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
acetylcholine-gated channel complex IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
neuronal acetylcholine receptor subunit beta-3
Names
acetylcholine receptor, neuronal nicotinic, beta-3 subunit
acetylcholine receptor, nicotinic, beta 3 (neuronal)
cholinergic receptor, nicotinic beta 3
cholinergic receptor, nicotinic, beta 3 (neuronal)
cholinergic receptor, nicotinic, beta polypeptide 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_000749.5NP_000740.1  neuronal acetylcholine receptor subunit beta-3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_000740.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC087533, AC090739, AC103843
    Consensus CDS
    CCDS6134.1
    UniProtKB/Swiss-Prot
    Q05901
    Related
    ENSP00000289957.2, ENST00000289957.3
    Conserved Domains (1) summary
    cl27321
    Location:23449
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  2. NM_001347717.2NP_001334646.1  neuronal acetylcholine receptor subunit beta-3 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC087533, AC090739, AC103843

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    42697366..42737407
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544390.2XP_011542692.1  neuronal acetylcholine receptor subunit beta-3 isoform X1

    Conserved Domains (2) summary
    pfam02931
    Location:1104
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:111317
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
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