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... See more...

Aliases for CHRNB2 Gene

Aliases for CHRNB2 Gene

  • Cholinergic Receptor Nicotinic Beta 2 Subunit 2 3 5
  • Cholinergic Receptor, Nicotinic, Beta Polypeptide 2 (Neuronal) 2 3
  • Acetylcholine Receptor, Nicotinic, Beta 2 (Neuronal) 2 3
  • Cholinergic Receptor, Nicotinic, Beta 2 (Neuronal) 2 3
  • Neuronal Acetylcholine Receptor Subunit Beta-2 3 4
  • Cholinergic Receptor, Nicotinic Beta 2 2 3
  • Beta2 Human Neuronal Nicotinic Acetylcholine Receptor 3
  • Neuronal Nicotinic Acetylcholine Receptor Beta 2 3
  • NAChRB2 3
  • CHRNB2 5
  • EFNL3 3

External Ids for CHRNB2 Gene

Previous GeneCards Identifiers for CHRNB2 Gene

  • GC01P152356
  • GC01P150271
  • GC01P151315
  • GC01P151758
  • GC01P151759
  • GC01P151353
  • GC01P152806
  • GC01P154540
  • GC01P125903

Summaries for CHRNB2 Gene

Entrez Gene Summary for CHRNB2 Gene

  • 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]

GeneCards Summary for CHRNB2 Gene

CHRNB2 (Cholinergic Receptor Nicotinic Beta 2 Subunit) is a Protein Coding gene. Diseases associated with CHRNB2 include Epilepsy, Nocturnal Frontal Lobe, 3 and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy. Among its related pathways are Nicotine addiction and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and extracellular ligand-gated ion channel activity. An important paralog of this gene is CHRNB4.

UniProtKB/Swiss-Prot Summary for CHRNB2 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 permeable to sodiun ions.

Tocris Summary for CHRNB2 Gene

  • Nicotinic alpha4beta2 receptors have high affinity for nicotine and account for >90% of [3H]-nicotine binding to brain tissues. A stoichiometry of (alpha4)2(beta2)3 has been proposed, generating two agonist binding sites consistent with the model of the muscle nAChR.

Gene Wiki entry for CHRNB2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHRNB2 Gene

Genomics for CHRNB2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CHRNB2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHRNB2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHRNB2

Top Transcription factor binding sites by QIAGEN in the CHRNB2 gene promoter:
  • AhR
  • Arnt
  • CUTL1
  • Egr-3
  • Evi-1
  • GATA-2
  • HOXA3
  • NRSF form 1
  • NRSF form 2
  • ZID

Genomic Locations for CHRNB2 Gene

Genomic Locations for CHRNB2 Gene
chr1:154,567,778-154,584,708
(GRCh38/hg38)
Size:
16,931 bases
Orientation:
Plus strand
chr1:154,540,257-154,552,502
(GRCh37/hg19)
Size:
12,246 bases
Orientation:
Plus strand

Genomic View for CHRNB2 Gene

Genes around CHRNB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRNB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRNB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRNB2 Gene

Proteins for CHRNB2 Gene

  • Protein details for CHRNB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17787-ACHB2_HUMAN
    Recommended name:
    Neuronal acetylcholine receptor subunit beta-2
    Protein Accession:
    P17787
    Secondary Accessions:
    • Q9UEH9

    Protein attributes for CHRNB2 Gene

    Size:
    502 amino acids
    Molecular mass:
    57019 Da
    Quaternary structure:
    • Neuronal AChR is composed of two different types of subunits: alpha and beta. Beta-2 subunit can be combined to alpha-2, alpha-3 or alpha-4 to give rise to functional receptors, complexes with beta-2 may be heteropentamers. Alpha-2/4:beta-2 nAChR complexes are proposed to exist in two subtypes: LS (low agonist sensitivity) with a (alpha-2/4)3:(beta-2)2 and HS (high agonist sensitivity) with a (alpha-2/4)2:(beta-2)3 stoichiometry; the subtypes differ in their subunit binding interfaces which are involved in ligand binding (PubMed:27493220, PubMed:22361591). Interacts with RIC3; which is required for proper folding and assembly (PubMed:16120769). Interacts with LYPD6 (PubMed:27344019). The heteropentamer alpha-3-beta-2 interacts with alpha-conotoxins BuIA, MII, PnIA and GID (By similarity). The heteropentamer alpha-3-beta-2 interacts with the alpha-conotoxins ImI and ImII (PubMed:15609996). The heteropentamer alpha-4-beta-2 interacts with the alpha-conotoxins PnIA, GID and MII (By similarity).

    Three dimensional structures from OCA and Proteopedia for CHRNB2 Gene

neXtProt entry for CHRNB2 Gene

Post-translational modifications for CHRNB2 Gene

  • Glycosylation at Asn51, Asn168, and Asn485
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRNB2 Gene

Antibody Products

  • Boster Bio Antibodies for CHRNB2
  • Santa Cruz Biotechnology (SCBT) Antibodies for CHRNB2

No data available for DME Specific Peptides for CHRNB2 Gene

Domains & Families for CHRNB2 Gene

Gene Families for CHRNB2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for CHRNB2 Gene

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

Suggested Antigen Peptide Sequences for CHRNB2 Gene

GenScript: Design optimal peptide antigens:
  • Neuronal acetylcholine receptor subunit beta-2 (ACHB2_HUMAN)
  • cDNA, FLJ94017, Homo sapiens cholinergic receptor, nicotinic, beta polypeptide 2(neuronal) (CHRNB2), mRNA (Q5SXY3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P17787

UniProtKB/Swiss-Prot:

ACHB2_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-2/CHRNB2 sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-2/CHRNB2 sub-subfamily.
genes like me logo Genes that share domains with CHRNB2: view

Function for CHRNB2 Gene

Molecular function for CHRNB2 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 permeable to sodiun ions.
GENATLAS Biochemistry:
cholinergic receptor,nicotinic,beta 2 polypeptide,neuronal

Phenotypes From GWAS Catalog for CHRNB2 Gene

Gene Ontology (GO) - Molecular Function for CHRNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005515 protein binding IPI 8663494
GO:0008144 drug binding IEA --
genes like me logo Genes that share ontologies with CHRNB2: view
genes like me logo Genes that share phenotypes with CHRNB2: view

Human Phenotype Ontology for CHRNB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHRNB2 Gene

MGI Knock Outs for CHRNB2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHRNB2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CHRNB2 Gene

Localization for CHRNB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRNB2 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 CHRNB2 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CHRNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0005892 acetylcholine-gated channel complex IEA,IDA 8906617
GO:0009897 external side of plasma membrane IEA,ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CHRNB2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CHRNB2 Gene

Pathways & Interactions for CHRNB2 Gene

genes like me logo Genes that share pathways with CHRNB2: view

Gene Ontology (GO) - Biological Process for CHRNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001508 action potential IEA --
GO:0001661 conditioned taste aversion IEA --
GO:0001666 response to hypoxia IEA,IDA 12189247
GO:0006811 ion transport IEA,NAS 8906617
GO:0006816 calcium ion transport IEA,ISS --
genes like me logo Genes that share ontologies with CHRNB2: view

No data available for SIGNOR curated interactions for CHRNB2 Gene

Drugs & Compounds for CHRNB2 Gene

(64) Drugs for CHRNB2 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nicotine Approved Pharma Antagonist, Activator, Activation, Target, agonist, antagonist 1518
Varenicline Approved, Investigational Pharma Target, partial agonist, agonist α4β2 nAChRs antagonist 320
Ethanol Approved Pharma Target 3266
Atropine Approved, Vet_approved Pharma Antagonist, Target MAChRs antagonist 208
Butabarbital Approved, Illicit Pharma Target, inhibitor 0

(2) Additional Compounds for CHRNB2 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Iodo-A-85380, 5-trimethylstannyl N-BOC derivative
213766-21-3

(5) Tocris Compounds for CHRNB2 Gene

Compound Action Cas Number
5-Iodo-A-85380 dihydrochloride High affinity alpha4beta2 and alpha6beta2 subtype-selective agonist 1217837-17-6
5-Iodo-A-85380, 5-trimethylstannyl N-BOC derivative Precursor to 5-Iodo-A-85380 (Cat. No. 1518) 213766-21-3
RJR 2403 oxalate alpha4beta2 selective nicotinic agonist 220662-95-3
TC 2559 difumarate Selective partial agonist at alpha4beta2 receptors 212332-35-9
Varenicline tartrate Orally active, subtype-selective alpha4beta2 partial agonist 375815-87-5

(39) ApexBio Compounds for CHRNB2 Gene

Compound Action Cas Number
Acetylcholine Chloride Major transmitter at many nervous sites 60-31-1
Acetylcysteine Antioxidant;mucolytic agent 616-91-1
Adiphenine HCl 50-42-0
Atropine MAChRs antagonist 5908-99-6
Bethanechol chloride Muscarinic receptor agonist 590-63-6
Catharanthine 2468-21-5
Decamethonium Bromide 541-22-0
Diphemanil Methylsulfate 62-97-5
Flavoxate hydrochloride 3717-88-2
Galanthamine HBr Acetylcholinesterase inhibitor 1953-04-4
Gallamine Triethiodide 65-29-2
Hexamethonium Bromide 55-97-0
Homatropine Bromide Muscarinic AChR antagonist 51-56-9
Homatropine Methylbromide Muscarinic AChR antagonist 80-49-9
Hyoscyamine 101-31-5
Ipratropium Bromide 22254-24-6
LY2119620 886047-22-9
Methscopolamine Muscarinic acetylcholine receptor blocker 155-41-9
Neostigmine Bromide Cholinesterase inhibitor 114-80-7
Nitenpyram 150824-47-8
Orphenadrine Citrate Antiparkinsonian and analgesic drug 4682-36-4
Otilonium Bromide 26095-59-0
Oxybutynin 5633-20-5
Oxybutynin chloride 1508-65-2
Pancuronium dibromide AChR antagonist 15500-66-0
Paroxetine HCl Antidepressant agents 78246-49-8
PNU-120596 α7 nAChR modulator,positive allosteric 501925-31-1
Pregnenolone 145-13-1
Rivastigmine Tartrate 129101-54-8
Rocuronium Bromide TGF-βR I kinase inhibitor 119302-91-9
Succinylcholine Chloride Dihydrate 6101-15-1
Tiotropium Bromide hydrate Muscarinic antagonist 139404-48-1
Tropicamide Antimuscarinic drug 1508-75-4
Varenicline α4β2 nAChRs antagonist 249296-44-4
Varenicline Hydrochloride α4β2 nicotinic receptor agonist 230615-23-3
Varenicline Tartrate Subtype-selective agonist of α4β2 nicotinic receptors,orally active 375815-87-5
Vecuronium Bromide Nonpolarizing neuromuscular relaxant 50700-72-6
vinblastine 865-21-4
α-Conotoxin PIA 669050-68-4
genes like me logo Genes that share compounds with CHRNB2: view

Drug Products

Transcripts for CHRNB2 Gene

mRNA/cDNA for CHRNB2 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 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 CHRNB2

Alternative Splicing Database (ASD) splice patterns (SP) for CHRNB2 Gene

No ASD Table

Relevant External Links for CHRNB2 Gene

GeneLoc Exon Structure for
CHRNB2

Expression for CHRNB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHRNB2 Gene

mRNA differential expression in normal tissues according to GTEx for CHRNB2 Gene

This gene is overexpressed in Brain - Cortex (x6.9), Brain - Anterior cingulate cortex (BA24) (x5.7), Brain - Frontal Cortex (BA9) (x5.7), Brain - Putamen (basal ganglia) (x4.2), Brain - Hippocampus (x4.1), and Brain - Nucleus accumbens (basal ganglia) (x4.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHRNB2

SOURCE GeneReport for Unigene cluster for CHRNB2 Gene:

Hs.2306

Evidence on tissue expression from TISSUES for CHRNB2 Gene

  • Nervous system(4.8)
  • Skin(2.2)
  • Muscle(2.1)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHRNB2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with CHRNB2: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for CHRNB2 Gene

Orthologs for CHRNB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRNB2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CHRNB2 30 31
  • 99.73 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CHRNB2 30 31
  • 91.62 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 91 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia CHRNB2 30 31
  • 89.87 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CHRNB2 31
  • 88 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Chrnb2 30
  • 87.83 (n)
Mouse
(Mus musculus)
Mammalia Chrnb2 30 17 31
  • 87.62 (n)
OneToOne
Chicken
(Gallus gallus)
Aves CHRNB2 30 31
  • 82.76 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CHRNB2 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia chrnb2 30
  • 78.48 (n)
Zebrafish
(Danio rerio)
Actinopterygii chrnb2b 30 31
  • 74.88 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta nAcRalpha-96Aa 30 32
  • 58.46 (n)
nAcRalpha-7E 32
  • 53 (a)
nAcRalpha-96Ab 32
  • 50 (a)
nAcR&bgr;-96A 32
  • 45 (a)
nAcRalpha-80B 32
  • 42 (a)
nAcR&bgr;-64B 32
  • 42 (a)
nAcRalpha-30D 32
  • 33 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002974 30
  • 56.22 (n)
Worm
(Caenorhabditis elegans)
Secernentea acr-2 32
  • 48 (a)
unc-63 32
  • 45 (a)
acr-12 32
  • 43 (a)
acr-3 32
  • 41 (a)
unc-29 32
  • 41 (a)
lev-1 32
  • 40 (a)
unc-38 32
  • 40 (a)
acr-8 32
  • 35 (a)
F18G5.4 32
  • 35 (a)
ZK973.5 32
  • 35 (a)
acr-17 32
  • 33 (a)
acr-5 32
  • 31 (a)
acr-13 32
  • 30 (a)
Y73F8A.30 32
  • 30 (a)
F11C7.1 32
  • 29 (a)
acr-22 32
  • 29 (a)
acr-18 32
  • 28 (a)
deg-3 32
  • 28 (a)
Y44A6E.1 32
  • 28 (a)
Y57G11C.2 32
  • 25 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 54 (a)
OneToMany
Species where no ortholog for CHRNB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 Vase (Ciona intestinalis)
  • 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 CHRNB2 Gene

ENSEMBL:
Gene Tree for CHRNB2 (if available)
TreeFam:
Gene Tree for CHRNB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHRNB2: view image

Paralogs for CHRNB2 Gene

Variants for CHRNB2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHRNB2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
639558 Uncertain Significance: Autosomal dominant nocturnal frontal lobe epilepsy 154,571,856(+) G/A MISSENSE_VARIANT
639777 Uncertain Significance: Autosomal dominant nocturnal frontal lobe epilepsy 154,571,361(+) C/T MISSENSE_VARIANT
640524 Uncertain Significance: Autosomal dominant nocturnal frontal lobe epilepsy 154,568,061(+) G/A MISSENSE_VARIANT
641814 Uncertain Significance: Autosomal dominant nocturnal frontal lobe epilepsy 154,571,926(+) G/T MISSENSE_VARIANT
643426 Uncertain Significance: Autosomal dominant nocturnal frontal lobe epilepsy 154,571,457(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CHRNB2 Gene

Structural Variations from Database of Genomic Variants (DGV) for CHRNB2 Gene

Variant ID Type Subtype PubMed ID
nsv1161683 CNV duplication 26073780
nsv521887 CNV gain 19592680

Variation tolerance for CHRNB2 Gene

Residual Variation Intolerance Score: 13.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.82; 17.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHRNB2 Gene

Human Gene Mutation Database (HGMD)
CHRNB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHRNB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRNB2 Gene

Disorders for CHRNB2 Gene

MalaCards: The human disease database

(28) MalaCards diseases for CHRNB2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, nocturnal frontal lobe, 3
  • enfl3
autosomal dominant nocturnal frontal lobe epilepsy
  • epilepsy, nocturnal frontal lobe, 1
epilepsy, nocturnal frontal lobe, 1
  • enfl1
epilepsy
  • epilepsy syndrome
tobacco addiction
  • tobacco addiction, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ACHB2_HUMAN
  • Epilepsy, nocturnal frontal lobe, 3 (ENFL3) [MIM:605375]: An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements. {ECO:0000269 PubMed:11062464, ECO:0000269 PubMed:11104662}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CHRNB2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CHRNB2: view

No data available for Genatlas for CHRNB2 Gene

Publications for CHRNB2 Gene

  1. Genetic and functional analysis of single nucleotide polymorphisms in the beta2-neuronal nicotinic acetylcholine receptor gene (CHRNB2). (PMID: 11906688) Lueders KK … Hamer DH (Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco 2002) 3 4 23 41
  2. CHRNA2 mutations are rare in the NFLE population: evaluation of a large cohort of Italian patients. (PMID: 18226955) Combi R … Tenchini ML (Sleep medicine 2009) 3 23 41
  3. Assessment of Alzheimer's disease case-control associations using family-based methods. (PMID: 18830724) Schjeide BM … Bertram L (Neurogenetics 2009) 3 23 41
  4. A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy. (PMID: 19058950) Chen Y … Xu Q (Epilepsy research 2009) 3 23 41
  5. 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

Products for CHRNB2 Gene

  • Signalway ELISA kits for CHRNB2

Sources for CHRNB2 Gene