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

    Gene ID: 1142, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:1963
    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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (42697366..42737407)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (42965410..43005503)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (42552509..42592550)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancers GRCh37_chr8:42248902-42249402 and GRCh37_chr8:42249403-42249903 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:42258699-42258918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27311 Neighboring gene voltage dependent anion channel 3 Neighboring gene solute carrier family 20 member 2 Neighboring gene Sharpr-MPRA regulatory region 15103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42331955-42332466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42332467-42332978 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42333451-42333976 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42333977-42334500 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:42350219-42351086 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:42359656-42360855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19156 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19157 Neighboring gene Sharpr-MPRA regulatory region 9023 Neighboring gene NANOG hESC enhancer GRCh37_chr8:42409514-42410035 Neighboring gene small integral membrane protein 19 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27312 Neighboring gene Sharpr-MPRA regulatory region 2659 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42516917-42517417 Neighboring gene uncharacterized LOC124900250 Neighboring gene uncharacterized LOC105379396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42575441-42575940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27314 Neighboring gene RPL7L1 pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27315 Neighboring gene cholinergic receptor nicotinic alpha 6 subunit Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42649154-42649988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27317 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:42671563-42671730 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:42698061-42698851 Neighboring gene uncharacterized LOC124901940 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

    EBI GWAS Catalog

    Description
    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.
    EBI GWAS Catalog
    Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acetylcholine binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to acetylcholine receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables acetylcholine-gated monoatomic cation-selective channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables heterocyclic compound binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in acetylcholine receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in membrane depolarization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in monoatomic ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuromuscular synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in presynaptic modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nicotine IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in synaptic transmission, cholinergic IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of acetylcholine-gated channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in dopaminergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    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)

    NEW Try the new Transcript table

    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, Q15827
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011544390.3XP_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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      42965410..43005503
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359692.1XP_054215667.1  neuronal acetylcholine receptor subunit beta-3 isoform X1