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    CHRNB2 cholinergic receptor nicotinic beta 2 subunit [ Homo sapiens (human) ]

    Gene ID: 1141, updated on 2-Nov-2024

    Summary

    Official Symbol
    CHRNB2provided by HGNC
    Official Full Name
    cholinergic receptor nicotinic beta 2 subunitprovided by HGNC
    Primary source
    HGNC:HGNC:1962
    See related
    Ensembl:ENSG00000160716 MIM:118507; AllianceGenome:HGNC:1962
    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
    Also known as
    EFNL3; nAChRB2
    Summary
    Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 9.5), adrenal (RPKM 0.7) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CHRNB2 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (154567778..154580013)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (153704898..153719720)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154540254..154552489)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene UBE2Q1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154530992-154531573 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154531574-154532154 Neighboring gene ubiquitin conjugating enzyme E2 Q1 Neighboring gene uncharacterized LOC107985206 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1363 Neighboring gene Sharpr-MPRA regulatory region 5811 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:154561176-154562375 Neighboring gene adenosine deaminase RNA specific Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1780 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154581605-154582598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1781 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154599559-154600344 Neighboring gene uncharacterized LOC124904427 Neighboring gene uncharacterized LOC124904428

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 binds to nicotinic acetylcholine receptors in muscle cells and neurons PubMed

    Go to the HIV-1, Human Interaction Database

    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 B cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in acetylcholine receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in acetylcholine receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in associative learning ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in behavioral response to nicotine IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in calcium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in central nervous system projection neuron axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cognition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lateral geniculate nucleus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in locomotory behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in membrane depolarization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in membrane depolarization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in memory IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nervous system process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in optic nerve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of B cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of dopamine secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of circadian sleep/wake cycle, REM sleep ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of dendrite morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of dopamine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of dopamine secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of synapse assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of synaptic transmission, dopaminergic ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to acetylcholine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to cocaine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to ethanol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to nicotine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in sensory perception of pain ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sensory perception of sound ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in smooth muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in social behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in synaptic transmission involved in micturition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in synaptic transmission, cholinergic ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vestibulocochlear nerve development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in visual learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in visual perception ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 
    located_in cholinergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in external side of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    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 plasma membrane raft ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in postsynaptic specialization membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynaptic membrane 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-2
    Names
    acetylcholine receptor, nicotinic, beta 2 (neuronal)
    beta2 human neuronal nicotinic acetylcholine receptor
    cholinergic receptor, nicotinic beta 2
    cholinergic receptor, nicotinic, beta 2 (neuronal)
    cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)
    neuronal nicotinic acetylcholine receptor beta 2

    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.

    Genomic

    1. NG_008027.1 RefSeqGene

      Range
      4998..17233
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000748.3NP_000739.1  neuronal acetylcholine receptor subunit beta-2 precursor

      See identical proteins and their annotated locations for NP_000739.1

      Status: REVIEWED

      Source sequence(s)
      AL592078, R40506, U62437
      Consensus CDS
      CCDS1070.1
      UniProtKB/Swiss-Prot
      P17787, Q9UEH9
      UniProtKB/TrEMBL
      A0A1B0GVD7, Q5SXY3
      Related
      ENSP00000357461.3, ENST00000368476.4
      Conserved Domains (2) summary
      TIGR00860
      Location:29479
      LIC; Cation transporter family protein
      cd19025
      Location:31234
      LGIC_ECD_nAChR_B2; extracellular domain of nicotinic acetylcholine receptor subunit beta 2 (CHRNB2)

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      154567778..154580013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000180.3XP_016855669.1  neuronal acetylcholine receptor subunit beta-2 isoform X1

      Conserved Domains (3) summary
      TIGR00860
      Location:1309
      LIC; Cation transporter family protein
      cd19064
      Location:65154
      LGIC_TM_nAChR; transmembrane domain of nicotinic acetylcholine receptor (nAChR)
      cl28912
      Location:164
      LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))

    RNA

    1. XR_001736952.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      153704898..153719720
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334069.1XP_054190044.1  neuronal acetylcholine receptor subunit beta-2 isoform X1

    RNA

    1. XR_008485885.1 RNA Sequence