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

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: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (154567778..154580013)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (153704898..153717133)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (154540254..154552489)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sleep-related hypermotor epilepsy associated mutations uncover important kinetic roles of alpha4beta2- nicotinic acetylcholine receptor intracellular structures.
Title: Sleep-related hypermotor epilepsy associated mutations uncover important kinetic roles of α4β2- nicotinic acetylcholine receptor intracellular structures.
Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular Epilepsy.
Title: Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular Epilepsy.
The alpha7 and beta2 nicotinic acetylcholine receptor subunits regulate apoptosis in the infant hippocampus, and in sudden infant death syndrome (SIDS).
Title: The α7 and β2 nicotinic acetylcholine receptor subunits regulate apoptosis in the infant hippocampus, and in sudden infant death syndrome (SIDS).
Identification of the initial steps in signal transduction in the alpha4beta2 nicotinic receptor has been reported.
Title: Identification of the Initial Steps in Signal Transduction in the α4β2 Nicotinic Receptor: Insights from Equilibrium and Nonequilibrium Simulations.
The fifth subunit in the (alpha4beta2)2 beta2 receptor isoform modulates maximal ACh responses. This effect appears to be driven by a modulatory, and asymmetric, association with the alpha4(+)/beta2(-) agonist sites.
Title: The fifth subunit of the (α4β2)2 β2 nicotinic ACh receptor modulates maximal ACh responses.
cryoelectron microscopy and the structural principles of distinct assemblies of the human alpha4beta2 nicotinic receptor
Title: Structural principles of distinct assemblies of the human α4β2 nicotinic receptor.
the mechanism of interaction between [Upsilon4E]GID and the agonist binding pockets of the alpha4beta2 and the halpha7 receptors, and to estimate their relative binding affinities, was investigated.
Title: Molecular simulation study of the unbinding of α-conotoxin [ϒ4E]GID at the α7 and α4β2 neuronal nicotinic acetylcholine receptors.
Reactive oxygen species, generated by 6-hydroxydopamine (6-OHDA), could cause the current rundown in alpha4beta2 nAChRs, which may play a role in Parkinson disease.
Title: Molecular basis of reactive oxygen species-induced inactivation of α4β2 nicotinic acetylcholine receptors.
Data suggest that amino acid residues alpha4Gly-41, alpha4Lys-64, and alpha4Thr-66 are critical for (alpha4)3(beta2)2 neuronal AChR potentiation by positive allosteric modulator (PAM) CMPI, but not by PAM NS9283; amino acid substitution at alpha4His-116, a known determinant of NS9283 binding and of agonist binding at alpha4:alpha4 subunit interface, did not reduce CMPI potentiation.
Title: Unraveling amino acid residues critical for allosteric potentiation of (α4)3(β2)2-type nicotinic acetylcholine receptor responses.
This study shows that unorthodox acetylcholine binding sites can form at the alpha5/alpha4 and beta3/alpha4 interfaces in (alpha4beta2)2alpha5 and (alpha4beta2)2beta3 nicotinic acetylcholine receptors (nAChRs) and at the alpha4/alpha5 in (beta2alpha4)2alpha5 nAChRs.
Title: Unorthodox Acetylcholine Binding Sites Formed by α5 and β3 Accessory Subunits in α4β2* Nicotinic Acetylcholine Receptors.

Submit: New GeneRIF Correction See all GeneRIFs (82)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal dominant nocturnal frontal lobe epilepsy 3 MedGen: C1854335 OMIM: 605375 GeneReviews: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70833 (e-PCR)
- UniSTS:10514

RH46993 (e-PCR)
- UniSTS:52767

STS-U62437 (e-PCR)
- UniSTS:68436

WI-19921 (e-PCR)
- UniSTS:43447

CHRNB2_23 (e-PCR)
- UniSTS:276176

STS-R37134 (e-PCR)
- UniSTS:45033

NoName (e-PCR)
- UniSTS:482289

Homology

Homologs of the CHRNB2 gene: The CHRNB2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 420 organisms have orthologs with human gene CHRNB2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acetylcholine binding	IC Inferred by Curator more info	PubMed
enables acetylcholine binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables acetylcholine receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables acetylcholine-gated cation-selective channel activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables acetylcholine-gated cation-selective channel activity	IDA Inferred from Direct Assay more info	PubMed
enables acetylcholine-gated cation-selective channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables acetylcholine-gated cation-selective channel activity	TAS Traceable Author Statement more info	PubMed
enables excitatory extracellular ligand-gated ion channel activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables heterocyclic compound binding	IEA Inferred from Electronic Annotation more info
enables ligand-gated ion channel activity	TAS Traceable Author Statement more info	PubMed
enables neurotransmitter receptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables quaternary ammonium group binding	IEA Inferred from Electronic Annotation more info
enables transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IBA Inferred from Biological aspect of Ancestor more info	PubMed

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 membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info	PubMed
is_active_in plasma membrane	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
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	PubMed

General protein information

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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

NG_008027.1 RefSeqGene

Range

4998..17233

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000748.3 → NP_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

Q5SXY3

Related

ENSP00000357461.3, ENST00000368476.4

Conserved Domains (2) summary

TIGR00860
Location:29 → 479

LIC; Cation transporter family protein

cd19025
Location:31 → 234

LGIC_ECD_nAChR_B2; extracellular domain of nicotinic acetylcholine receptor subunit beta 2 (CHRNB2)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

154567778..154580013

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (3) summary

TIGR00860
Location:1 → 309

LIC; Cation transporter family protein

cd19064
Location:65 → 154

LGIC_TM_nAChR; transmembrane domain of nicotinic acetylcholine receptor (nAChR)

cl28912
Location:1 → 64

LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))