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    CHRNB4 cholinergic receptor nicotinic beta 4 subunit [ Homo sapiens (human) ]

    Gene ID: 1143, updated on 17-Jun-2024

    Summary

    Official Symbol
    CHRNB4provided by HGNC
    Official Full Name
    cholinergic receptor nicotinic beta 4 subunitprovided by HGNC
    Primary source
    HGNC:HGNC:1964
    See related
    Ensembl:ENSG00000117971 MIM:118509; AllianceGenome:HGNC:1964
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    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]
    Expression
    Biased expression in testis (RPKM 1.1), adrenal (RPKM 0.6) and 7 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CHRNB4 in Genome Data Viewer
    Location:
    15q25.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (78624111..78661641, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (76487585..76519049, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (78916453..78933552, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9919 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:78833042-78833934 Neighboring gene proteasome 20S subunit alpha 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6713 Neighboring gene cholinergic receptor nicotinic alpha 5 subunit Neighboring gene cholinergic receptor nicotinic alpha 3 subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:78921681-78922180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:78930031-78930532 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6714 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:78952684-78953883 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr15:78963837-78964728 Neighboring gene ribosomal protein L18 pseudogene 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:78965621-78966511 Neighboring gene uncharacterized LOC105370913 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:79019283-79019837 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:79019838-79020391 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:79027403-79027904 Neighboring gene golgin A6 family member D pseudogene

    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
    A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25.
    EBI GWAS Catalog
    A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.
    EBI GWAS Catalog
    Beyond cigarettes-per-day: A genome-wide association study of the biomarker carbon monoxide.
    EBI GWAS Catalog
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer.
    EBI GWAS Catalog
    GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in acetylcholine receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in behavioral response to nicotine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in locomotory behavior 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 monoatomic ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in neuronal action potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transmission of nerve impulse IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of neurotransmitter secretion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of smooth muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in smooth muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synaptic transmission involved in micturition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in synaptic transmission, cholinergic TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of acetylcholine-gated channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of acetylcholine-gated channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of acetylcholine-gated channel complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cholinergic 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 IC
    Inferred by Curator
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in tertiary granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

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

    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_000750.5NP_000741.1  neuronal acetylcholine receptor subunit beta-4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_000741.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC067863, AI625439, BC096081, BF311784, BX348201, BY795907, CN366252, HY213565, U48861, U62439
      Consensus CDS
      CCDS10306.1
      UniProtKB/Swiss-Prot
      A4FTX5, E9PHE8, P30926, Q16607, Q4VBA5, Q8WXC8, Q9BQR4
      Related
      ENSP00000261751.3, ENST00000261751.8
      Conserved Domains (1) summary
      cl27321
      Location:5480
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    2. NM_001256567.3NP_001243496.1  neuronal acetylcholine receptor subunit beta-4 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2) with a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC067863, AI625439, BC096081, U48861, U62439
      Consensus CDS
      CCDS58392.1
      UniProtKB/Swiss-Prot
      P30926
      Related
      ENSP00000416386.2, ENST00000412074.6
      Conserved Domains (1) summary
      pfam02931
      Location:27120
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      78624111..78661641 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521187.3XP_011519489.1  neuronal acetylcholine receptor subunit beta-4 isoform X1

      See identical proteins and their annotated locations for XP_011519489.1

      Conserved Domains (3) summary
      TIGR00860
      Location:21477
      LIC; Cation transporter family protein
      pfam02931
      Location:24229
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:236475
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    2. XM_011521186.3XP_011519488.1  neuronal acetylcholine receptor subunit beta-4 isoform X1

      See identical proteins and their annotated locations for XP_011519488.1

      Conserved Domains (3) summary
      TIGR00860
      Location:21477
      LIC; Cation transporter family protein
      pfam02931
      Location:24229
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:236475
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    3. XM_011521191.3XP_011519493.1  neuronal acetylcholine receptor subunit beta-4 isoform X6

      See identical proteins and their annotated locations for XP_011519493.1

      Conserved Domains (2) summary
      pfam02931
      Location:1158
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:165404
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    4. XM_017021886.2XP_016877375.1  neuronal acetylcholine receptor subunit beta-4 isoform X2

      Conserved Domains (3) summary
      TIGR00860
      Location:2450
      LIC; Cation transporter family protein
      pfam02931
      Location:1202
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:209448
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    5. XM_017021885.2XP_016877374.1  neuronal acetylcholine receptor subunit beta-4 isoform X2

      Conserved Domains (3) summary
      TIGR00860
      Location:2450
      LIC; Cation transporter family protein
      pfam02931
      Location:1202
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:209448
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    6. XM_011521190.3XP_011519492.1  neuronal acetylcholine receptor subunit beta-4 isoform X6

      See identical proteins and their annotated locations for XP_011519492.1

      Conserved Domains (2) summary
      pfam02931
      Location:1158
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:165404
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    7. XM_011521192.3XP_011519494.1  neuronal acetylcholine receptor subunit beta-4 isoform X7

      Conserved Domains (2) summary
      pfam02931
      Location:950
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:57296
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    8. XM_017021889.3XP_016877378.1  neuronal acetylcholine receptor subunit beta-4 isoform X5

    9. XM_017021888.2XP_016877377.1  neuronal acetylcholine receptor subunit beta-4 isoform X4

    10. XM_017021887.2XP_016877376.1  neuronal acetylcholine receptor subunit beta-4 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      76487585..76519049 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377235.1XP_054233210.1  neuronal acetylcholine receptor subunit beta-4 isoform X1

    2. XM_054377236.1XP_054233211.1  neuronal acetylcholine receptor subunit beta-4 isoform X1

    3. XM_054377242.1XP_054233217.1  neuronal acetylcholine receptor subunit beta-4 isoform X6

    4. XM_054377238.1XP_054233213.1  neuronal acetylcholine receptor subunit beta-4 isoform X2

    5. XM_054377237.1XP_054233212.1  neuronal acetylcholine receptor subunit beta-4 isoform X2

    6. XM_054377243.1XP_054233218.1  neuronal acetylcholine receptor subunit beta-4 isoform X6

    7. XM_054377244.1XP_054233219.1  neuronal acetylcholine receptor subunit beta-4 isoform X7

    8. XM_054377241.1XP_054233216.1  neuronal acetylcholine receptor subunit beta-4 isoform X5

    9. XM_054377240.1XP_054233215.1  neuronal acetylcholine receptor subunit beta-4 isoform X4

    10. XM_054377239.1XP_054233214.1  neuronal acetylcholine receptor subunit beta-4 isoform X3