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

    Gene ID: 1141, updated on 5-Feb-2016
    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; HPRD:00335; MIM:118507; Vega:OTTHUMG00000037262
    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]
    Orthologs
    See CHRNB2 in Epigenomics, MapViewer
    Location:
    1q21.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (154567781..154579878)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154540257..154552354)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tudor domain containing 10 Neighboring gene UBE2Q1 antisense RNA 1 Neighboring gene ubiquitin conjugating enzyme E2Q family member 1 Neighboring gene adenosine deaminase, RNA-specific Neighboring gene potassium calcium-activated channel subfamily N member 3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acetylcholine binding IC
    Inferred by Curator
    more info
    PubMed 
    acetylcholine binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acetylcholine receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acetylcholine-activated cation-selective channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acetylcholine-activated cation-selective channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    drug binding IEA
    Inferred from Electronic Annotation
    more info
     
    ligand-gated ion channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    B cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    action potential IEA
    Inferred from Electronic Annotation
    more info
     
    associative learning ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    behavioral response to nicotine IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    calcium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cation transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    cation transmembrane transport TAS
    Traceable Author Statement
    more info
    PubMed 
    central nervous system projection neuron axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cognition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    conditioned taste aversion IEA
    Inferred from Electronic Annotation
    more info
     
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
    PubMed 
    ion transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    lateral geniculate nucleus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    locomotory behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane depolarization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    memory IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neurological system process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuromuscular synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    optic nerve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of B cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of dopamine secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of synaptic transmission, dopaminergic IEA
    Inferred from Electronic Annotation
    more info
     
    protein heterooligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of circadian sleep/wake cycle, REM sleep ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of circadian sleep/wake cycle, non-REM sleep IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of dendrite morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of dopamine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of dopamine secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of synapse assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of synaptic transmission, dopaminergic ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to cocaine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to ethanol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to nicotine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sensory perception of pain ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sensory perception of sound ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    smooth muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    social behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    synaptic transmission TAS
    Traceable Author Statement
    more info
     
    synaptic transmission involved in micturition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    synaptic transmission, cholinergic IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    synaptic transmission, cholinergic ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    vestibulocochlear nerve development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    visual learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    visual perception ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    acetylcholine-gated channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    external side of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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
      5001..17098
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000748.2NP_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
      UniProtKB/TrEMBL
      Q5SXY3
      Related
      ENSP00000357461, OTTHUMP00000035374, ENST00000368476, OTTHUMT00000090697
      Conserved Domains (3) summary
      pfam02931
      Location:29234
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:241478
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
      TIGR00860
      Location:29479
      LIC; Cation transporter family protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

      Range
      154567781..154579878
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      155936657..155948754
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)