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

Gene ID: 1141, updated on 8-Dec-2018

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

Genomic context

See CHRNB2 in Genome Data Viewer
Location:
1q21.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (154567781..154584708)
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 UBE2Q1 antisense RNA 1 Neighboring gene uncharacterized LOC107985206 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 uncharacterized LOC105371449

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 FunctionsWhat'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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to acetylcholine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acetylcholine binding IC
Inferred by Curator
more info
PubMed 
acetylcholine binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to acetylcholine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acetylcholine receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
acetylcholine-gated cation-selective channel activity IDA
Inferred from Direct Assay
more info
PubMed 
acetylcholine-gated cation-selective channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
acetylcholine-gated cation-selective channel activity TAS
Traceable Author Statement
more info
PubMed 
contributes_to extracellular ligand-gated ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
acetylcholine receptor signaling pathway 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
 
central nervous system projection neuron axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
conditioned taste aversion IEA
Inferred from Electronic Annotation
more info
 
excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
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
 
nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nervous system process IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuromuscular synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
regulation of synaptic vesicle exocytosis IEA
Inferred from Electronic Annotation
more info
 
response to acetylcholine 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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 involved in micturition ISS
Inferred from Sequence or Structural Similarity
more info
 
synaptic transmission, cholinergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acetylcholine-gated channel complex IDA
Inferred from Direct Assay
more info
PubMed 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cholinergic synapse IEA
Inferred from Electronic Annotation
more info
 
dopaminergic synapse 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 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
plasma membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
 
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)

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
    ENSP00000357461.3, ENST00000368476.3
    Conserved Domains (2) 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    154567781..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

RNA

  1. XR_001736952.2 RNA Sequence

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