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CHRNB4 cholinergic receptor nicotinic beta 4 subunit [ Homo sapiens (human) ]

Gene ID: 1143, updated on 17-Feb-2019

Summary

Official Symbol
CHRNB4provided by HGNC
Official Full Name
cholinergic receptor nicotinic beta 4 subunitprovided by HGNC
Primary source
HGNC:HGNC:1964
See related
Ensembl:ENSG00000117971 MIM:118509
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
Summary
This gene is found within a conserved gene cluster and encodes one of the beta subunits of the nicotinic acetylcholine receptor (nAChRs) superfamily which form ligand-gated ion channels with a central pore that forms a cation channel. Neuronal nAChRs are pentameric structures that can be either homomeric or heteromeric, with heteromeric structures containing both alpha and beta subunits. Each subunit contains an extracellular amino terminus and four transmembrane domains. Nicotine is one of the agonists that binds to the receptor. Variants in this gene have been associated with nicotine dependence and lung cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2017]
Expression
Biased expression in testis (RPKM 1.1), adrenal (RPKM 0.6) and 7 other tissues See more
Orthologs

Genomic context

See CHRNB4 in Genome Data Viewer
Location:
15q25.1
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (78623282..78655586, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (78916636..78933587, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene proteasome subunit alpha 4 Neighboring gene cholinergic receptor nicotinic alpha 5 subunit Neighboring gene cholinergic receptor nicotinic alpha 3 subunit Neighboring gene uncharacterized LOC112268142 Neighboring gene ribosomal protein L18 pseudogene 11 Neighboring gene uncharacterized LOC105370913

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?

Phenotypes

NHGRI GWAS Catalog

Description
A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25.
NHGRI GWA Catalog
A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.
NHGRI GWA Catalog
Beyond cigarettes-per-day: A genome-wide association study of the biomarker carbon monoxide.
NHGRI GWA Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer.
NHGRI GWA Catalog
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
NHGRI GWA Catalog

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 
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 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
action potential IEA
Inferred from Electronic Annotation
more info
 
behavioral response to nicotine IEA
Inferred from Electronic Annotation
more info
 
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 TAS
Traceable Author Statement
more info
PubMed 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuromuscular synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
positive regulation of transmission of nerve impulse IEA
Inferred from Electronic Annotation
more info
 
protein heterooligomerization IEA
Inferred from Electronic Annotation
more info
 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of neurotransmitter secretion NAS
Non-traceable Author Statement
more info
PubMed 
regulation of smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
response to nicotine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IEA
Inferred from Electronic Annotation
more info
 
synaptic transmission involved in micturition IMP
Inferred from Mutant Phenotype
more info
PubMed 
synaptic transmission, cholinergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
acetylcholine-gated channel complex TAS
Traceable Author Statement
more info
PubMed 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cholinergic synapse IEA
Inferred from Electronic Annotation
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 plasma membrane IC
Inferred by Curator
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
specific granule membrane TAS
Traceable Author Statement
more info
 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tertiary granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
neuronal acetylcholine receptor subunit beta-4
Names
acetylcholine receptor, nicotinic, beta 4 (neuronal)
cholinergic receptor, nicotinic, beta 4 (neuronal)
cholinergic receptor, nicotinic, beta polypeptide 4
neuronal nicotinic receptor beta 4 subunit

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.

mRNA and Protein(s)

  1. NM_000750.5NP_000741.1  neuronal acetylcholine receptor subunit beta-4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_000741.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC067863, AI625439, BC096081, BF311784, BX348201, BY795907, CN366252, HY213565, U48861, U62439
    Consensus CDS
    CCDS10306.1
    UniProtKB/Swiss-Prot
    P30926
    Related
    ENSP00000261751.3, ENST00000261751.7
    Conserved Domains (1) summary
    cl27321
    Location:5480
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  2. NM_001256567.2NP_001243496.1  neuronal acetylcholine receptor subunit beta-4 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2) with a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC067863, AI625439, BC096081, U48861, U62439
    Consensus CDS
    CCDS58392.1
    UniProtKB/Swiss-Prot
    P30926
    Related
    ENSP00000416386.2, ENST00000412074.6
    Conserved Domains (1) summary
    pfam02931
    Location:27120
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

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_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    78623282..78655586 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521187.2XP_011519489.1  neuronal acetylcholine receptor subunit beta-4 isoform X1

    See identical proteins and their annotated locations for XP_011519489.1

    Conserved Domains (3) summary
    TIGR00860
    Location:21477
    LIC; Cation transporter family protein
    pfam02931
    Location:24229
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:236475
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  2. XM_011521186.2XP_011519488.1  neuronal acetylcholine receptor subunit beta-4 isoform X1

    See identical proteins and their annotated locations for XP_011519488.1

    Conserved Domains (3) summary
    TIGR00860
    Location:21477
    LIC; Cation transporter family protein
    pfam02931
    Location:24229
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:236475
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  3. XM_011521192.2XP_011519494.1  neuronal acetylcholine receptor subunit beta-4 isoform X7

    Conserved Domains (2) summary
    pfam02931
    Location:950
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:57296
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  4. XM_011521191.2XP_011519493.1  neuronal acetylcholine receptor subunit beta-4 isoform X6

    See identical proteins and their annotated locations for XP_011519493.1

    Conserved Domains (2) summary
    pfam02931
    Location:1158
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:165404
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  5. XM_017021886.1XP_016877375.1  neuronal acetylcholine receptor subunit beta-4 isoform X2

    Conserved Domains (3) summary
    TIGR00860
    Location:2450
    LIC; Cation transporter family protein
    pfam02931
    Location:1202
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:209448
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  6. XM_017021885.1XP_016877374.1  neuronal acetylcholine receptor subunit beta-4 isoform X2

    Conserved Domains (3) summary
    TIGR00860
    Location:2450
    LIC; Cation transporter family protein
    pfam02931
    Location:1202
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:209448
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  7. XM_011521190.2XP_011519492.1  neuronal acetylcholine receptor subunit beta-4 isoform X6

    See identical proteins and their annotated locations for XP_011519492.1

    Conserved Domains (2) summary
    pfam02931
    Location:1158
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:165404
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  8. XM_017021889.2XP_016877378.1  neuronal acetylcholine receptor subunit beta-4 isoform X5

  9. XM_017021888.1XP_016877377.1  neuronal acetylcholine receptor subunit beta-4 isoform X4

  10. XM_017021887.1XP_016877376.1  neuronal acetylcholine receptor subunit beta-4 isoform X3

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