The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are (hetero)pentamers composed of homologous subunits. The subunits that make up the muscle and neuronal forms of nAChRs are encoded by separate genes and have different primary structure. There are several subtyp... See more...

Aliases for CHRNB3 Gene

Aliases for CHRNB3 Gene

  • Cholinergic Receptor Nicotinic Beta 3 Subunit 2 3 5
  • Acetylcholine Receptor, Nicotinic, Beta 3 (Neuronal) 2 3
  • Cholinergic Receptor, Nicotinic, Beta Polypeptide 3 2 3
  • Cholinergic Receptor, Nicotinic, Beta 3 (Neuronal) 2 3
  • Neuronal Acetylcholine Receptor Subunit Beta-3 3 4
  • Cholinergic Receptor, Nicotinic Beta 3 2 3
  • Acetylcholine Receptor, Neuronal Nicotinic, Beta-3 Subunit 3

External Ids for CHRNB3 Gene

Previous GeneCards Identifiers for CHRNB3 Gene

  • GC08P042340
  • GC08P042622
  • GC08P042569
  • GC08P042671
  • GC08P042552
  • GC08P041074

Summaries for CHRNB3 Gene

Entrez Gene Summary for CHRNB3 Gene

  • The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are (hetero)pentamers composed of homologous subunits. The subunits that make up the muscle and neuronal forms of nAChRs are encoded by separate genes and have different primary structure. There are several subtypes of neuronal nAChRs that vary based on which homologous subunits are arranged around the central channel. They are classified as alpha-subunits if, like muscle alpha-1 (MIM 100690), they have a pair of adjacent cysteines as part of the presumed acetylcholine binding site. Subunits lacking these cysteine residues are classified as beta-subunits (Groot Kormelink and Luyten, 1997 [PubMed 9009220]). Elliott et al. (1996) [PubMed 8906617] stated that the proposed structure for each subunit is a conserved N-terminal extracellular domain followed by 3 conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region.[supplied by OMIM, Apr 2010]

GeneCards Summary for CHRNB3 Gene

CHRNB3 (Cholinergic Receptor Nicotinic Beta 3 Subunit) is a Protein Coding gene. Diseases associated with CHRNB3 include Duane Retraction Syndrome and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy. Among its related pathways are Transmission across Chemical Synapses and Postsynaptic nicotinic acetylcholine receptors. Gene Ontology (GO) annotations related to this gene include drug binding. An important paralog of this gene is CHRNA5.

UniProtKB/Swiss-Prot Summary for CHRNB3 Gene

  • After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

Gene Wiki entry for CHRNB3 Gene

Additional gene information for CHRNB3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHRNB3 Gene

Genomics for CHRNB3 Gene

GeneHancer (GH) Regulatory Elements for CHRNB3 Gene

Promoters and enhancers for CHRNB3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J042695 Promoter/Enhancer 0.9 EPDnew Ensembl 500.7 -0.2 -165 3.6 FOS IKZF1 GATA2 TBX21 CEBPB JUN ZNF677 HLF IKZF2 RUNX3 CHRNB3 piR-50443-361 LOC105379396 RF00017-7012
GH08J042739 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 12.2 +44.5 44535 6.2 KAT7 SAP130 ARNT MXD4 SMARCA5 ELF1 DRAP1 ZGPAT NR2F1 CBX2 CHRNB3 piR-50444-452 LOC100288666 lnc-CHRNA6-2 RF00017-7015 RF00017-7012
GH08J042789 Enhancer 0.9 ENCODE 11.6 +92.9 92929 1.7 SP1 GTF2E2 EP300 AFF1 MEF2C CTBP1 TRIM22 ATF2 TAF9B HDAC3 CHRNB3 ENSG00000255101 HOOK3 RNF170 piR-31470-485 CHRNA6 piR-40154-188 RF00017-7012
GH08J042753 Enhancer 0.7 Ensembl ENCODE 11.6 +57.4 57435 2.8 RELA NBN IKZF1 NR2F1 PBX3 CTCF TAF1 PAX5 MLLT1 DPF2 piR-57133-580 ENSG00000255101 CHRNB3 HOOK3 RNF170 piR-33804-119 CHRNA6 RF00017-7012
GH08J042783 Enhancer 0.6 Ensembl 12.1 +86.8 86835 1.6 SRF ARNT MEF2B NBN EBF1 IKZF1 NR2F1 ZBTB33 ZNF217 SPI1 CHRNB3 ENSG00000255101 piR-58297-468 piR-44110-083 CHRNA6 RF00017-7012
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHRNB3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHRNB3

Top Transcription factor binding sites by QIAGEN in the CHRNB3 gene promoter:
  • AREB6
  • ER-alpha
  • IRF-7A
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Nkx6-1
  • Pbx1a

Genomic Locations for CHRNB3 Gene

Genomic Locations for CHRNB3 Gene
chr8:42,697,366-42,737,407
(GRCh38/hg38)
Size:
40,042 bases
Orientation:
Plus strand
chr8:42,552,519-42,592,550
(GRCh37/hg19)
Size:
40,032 bases
Orientation:
Plus strand

Genomic View for CHRNB3 Gene

Genes around CHRNB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRNB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRNB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRNB3 Gene

Proteins for CHRNB3 Gene

  • Protein details for CHRNB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q05901-ACHB3_HUMAN
    Recommended name:
    Neuronal acetylcholine receptor subunit beta-3
    Protein Accession:
    Q05901
    Secondary Accessions:
    • Q15827

    Protein attributes for CHRNB3 Gene

    Size:
    458 amino acids
    Molecular mass:
    52729 Da
    Quaternary structure:
    • Neuronal AChR seems to be composed of two different type of subunits: alpha and beta.

neXtProt entry for CHRNB3 Gene

Post-translational modifications for CHRNB3 Gene

  • Glycosylation at Asn51, Asn138, and Asn166
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRNB3 Gene

No data available for DME Specific Peptides for CHRNB3 Gene

Domains & Families for CHRNB3 Gene

Gene Families for CHRNB3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CHRNB3 Gene

Blocks:
  • Nicotinic acetylcholine receptor signature
  • Neurotransmitter-gated ion-channel
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CHRNB3 Gene

GenScript: Design optimal peptide antigens:
  • Neuronal acetylcholine receptor subunit beta-3 (ACHB3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q05901

UniProtKB/Swiss-Prot:

ACHB3_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-3/CHRNB3 sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-3/CHRNB3 sub-subfamily.
genes like me logo Genes that share domains with CHRNB3: view

Function for CHRNB3 Gene

Molecular function for CHRNB3 Gene

UniProtKB/Swiss-Prot Function:
After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
GENATLAS Biochemistry:
cholinergic receptor,nicotinic,beta 3 polypeptide,neuronal

Phenotypes From GWAS Catalog for CHRNB3 Gene

Gene Ontology (GO) - Molecular Function for CHRNB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005230 contributes_to extracellular ligand-gated ion channel activity IBA 21873635
GO:0008144 drug binding IEA --
GO:0015267 channel activity TAS 7690916
GO:0015464 contributes_to acetylcholine receptor activity IBA 21873635
genes like me logo Genes that share ontologies with CHRNB3: view
genes like me logo Genes that share phenotypes with CHRNB3: view

Animal Models for CHRNB3 Gene

MGI Knock Outs for CHRNB3:

Animal Model Products

  • Taconic Biosciences Mouse Models for CHRNB3

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHRNB3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CHRNB3 Gene

Localization for CHRNB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRNB3 Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHRNB3 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CHRNB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0005892 acetylcholine-gated channel complex IBA,IEA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 8906617
genes like me logo Genes that share ontologies with CHRNB3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CHRNB3 Gene

Pathways & Interactions for CHRNB3 Gene

genes like me logo Genes that share pathways with CHRNB3: view

Gene Ontology (GO) - Biological Process for CHRNB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0007165 signal transduction TAS,IBA 21873635
GO:0007268 chemical synaptic transmission IBA 21873635
GO:0007271 synaptic transmission, cholinergic TAS,IBA 21873635
GO:0007274 neuromuscular synaptic transmission IBA 21873635
genes like me logo Genes that share ontologies with CHRNB3: view

No data available for SIGNOR curated interactions for CHRNB3 Gene

Drugs & Compounds for CHRNB3 Gene

(4) Drugs for CHRNB3 Gene - From: DrugBank, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanol Approved Pharma Target 3220
Galantamine Approved Pharma Target, allosteric modulator Acetylcholinesterase inhibitor 108
Nicotine Approved Pharma Antagonist, Activation, Activator, Target, agonist 1469
α-Conotoxin PIA Pharma 0

(1) ApexBio Compounds for CHRNB3 Gene

Compound Action Cas Number
α-Conotoxin PIA 669050-68-4
genes like me logo Genes that share compounds with CHRNB3: view

Drug Products

Transcripts for CHRNB3 Gene

mRNA/cDNA for CHRNB3 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHRNB3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHRNB3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8
SP1: - -
SP2:
SP3: -

Relevant External Links for CHRNB3 Gene

GeneLoc Exon Structure for
CHRNB3

Expression for CHRNB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHRNB3 Gene

mRNA differential expression in normal tissues according to GTEx for CHRNB3 Gene

This gene is overexpressed in Brain - Substantia nigra (x15.4), Brain - Cerebellar Hemisphere (x11.1), Brain - Cerebellum (x8.5), and Pancreas (x5.7).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHRNB3

SOURCE GeneReport for Unigene cluster for CHRNB3 Gene:

Hs.654576

Evidence on tissue expression from TISSUES for CHRNB3 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with CHRNB3: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CHRNB3 Gene

Orthologs for CHRNB3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRNB3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHRNB3 31 30
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CHRNB3 31 30
  • 86 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHRNB3 31
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHRNB3 31
  • 83 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHRNB3 31 30
  • 82.68 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chrnb3 30
  • 82.58 (n)
mouse
(Mus musculus)
Mammalia Chrnb3 17 31 30
  • 81.98 (n)
chicken
(Gallus gallus)
Aves CHRNB3 31 30
  • 75.19 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHRNB3 31
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chrnb3 30
  • 71.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia chrnb3-prov 30
zebrafish
(Danio rerio)
Actinopterygii chrnb3b 31
  • 73 (a)
OneToMany
chrnb3a 31 30
  • 69.63 (n)
OneToMany
-- 30
fruit fly
(Drosophila melanogaster)
Insecta nAcRalpha-96Aa 32
  • 53 (a)
nAcRalpha-7E 32
  • 50 (a)
nAcRalpha-96Ab 32
  • 48 (a)
nAcRalpha-30D 32
  • 44 (a)
nAcR&bgr;-96A 32
  • 43 (a)
nAcR&bgr;-21C 32
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-63 32
  • 44 (a)
acr-2 32
  • 40 (a)
acr-3 32
  • 38 (a)
lev-1 32
  • 38 (a)
unc-29 32
  • 37 (a)
ZK973.5 32
  • 35 (a)
acr-13 32
  • 32 (a)
acr-8 32
  • 32 (a)
F18G5.4 32
  • 31 (a)
acr-22 32
  • 29 (a)
Y73F8A.30 32
  • 29 (a)
acr-14 32
  • 28 (a)
Species where no ortholog for CHRNB3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHRNB3 Gene

ENSEMBL:
Gene Tree for CHRNB3 (if available)
TreeFam:
Gene Tree for CHRNB3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHRNB3: view image

Paralogs for CHRNB3 Gene

Variants for CHRNB3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHRNB3 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
712805 Benign: not provided 42,736,592(+) A/G MISSENSE_VARIANT
788867 Benign: not provided 42,708,739(+) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
rs35327613 - p.Lys451Glu

Additional dbSNP identifiers (rs#s) for CHRNB3 Gene

Structural Variations from Database of Genomic Variants (DGV) for CHRNB3 Gene

Variant ID Type Subtype PubMed ID
dgv7186n100 CNV gain 25217958
esv2662041 CNV deletion 23128226
esv2666038 CNV deletion 23128226
esv2668251 CNV deletion 23128226
esv3543429 CNV deletion 23714750
esv3543430 CNV deletion 23714750
esv3572717 CNV loss 25503493
esv3572718 CNV loss 25503493
esv3617017 CNV loss 21293372
esv3617018 CNV loss 21293372
nsv1161758 CNV duplication 26073780
nsv397520 CNV deletion 16902084
nsv483102 CNV loss 15286789
nsv967583 CNV duplication 23825009

Variation tolerance for CHRNB3 Gene

Residual Variation Intolerance Score: 61.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.26; 52.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHRNB3 Gene

Human Gene Mutation Database (HGMD)
CHRNB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHRNB3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRNB3 Gene

Disorders for CHRNB3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CHRNB3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
duane retraction syndrome
  • drs
autosomal dominant nocturnal frontal lobe epilepsy
  • epilepsy, nocturnal frontal lobe, 1
cocaine dependence
drug dependence
tobacco addiction
  • tobacco addiction, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CHRNB3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CHRNB3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHRNB3 Gene

Publications for CHRNB3 Gene

  1. Association of genes coding for the alpha-4, alpha-5, beta-2 and beta-3 subunits of nicotinic receptors with cigarette smoking and nicotine dependence. (PMID: 19482438) Etter JF … Bertrand D (Addictive behaviors 2009) 3 23 41 54
  2. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 41 54
  3. Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. (PMID: 20418888) Thorgeirsson TE … Stefansson K (Nature genetics 2010) 3 41 54
  4. Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans. (PMID: 20584212) Saccone NL … Bierut LJ (Genes, brain, and behavior 2010) 3 41 54
  5. Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerström test for nicotine dependence. (PMID: 20736995) Wessel J … Bergen AW (Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2010) 3 41 54

Products for CHRNB3 Gene

  • Signalway ELISA kits for CHRNB3
  • Signalway Proteins for CHRNB3

Sources for CHRNB3 Gene