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

Gene ID: 1141, updated on 23-Nov-2021

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
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
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Genomic context

See CHRNB2 in Genome Data Viewer
Location:
1q21.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (154567778..154584708)
105.20201022 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 uncharacterized LOC107985206 Neighboring gene Sharpr-MPRA regulatory region 5811 Neighboring gene ubiquitin conjugating enzyme E2 Q1 Neighboring gene adenosine deaminase RNA specific Neighboring gene potassium calcium-activated channel subfamily N member 3 Neighboring gene Sharpr-MPRA regulatory region 6464 Neighboring gene Sharpr-MPRA regulatory region 4766

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?

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

Homology

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 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
PubMed 
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 ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ion transport NAS
Non-traceable Author Statement
more info
PubMed 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in memory IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of action potential ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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 integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in plasma membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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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.

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
    UniProtKB/TrEMBL
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    154567778..154584708
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000180.2XP_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_001736952.2 RNA Sequence

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