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Aliases for CHRNB2 Gene

Aliases for CHRNB2 Gene

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

External Ids for CHRNB2 Gene

Previous GeneCards Identifiers for CHRNB2 Gene

  • GC01P152356
  • GC01P150271
  • GC01P151315
  • GC01P151758
  • GC01P151759
  • GC01P151353
  • GC01P152806
  • 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 chrnb2-related nocturnal frontal lobe epilepsy, autosomal dominant. Among its related pathways are Transmission across Chemical Synapses and SIDS Susceptibility Pathways. GO annotations related to this gene include protein heterodimerization activity and extracellular ligand-gated ion channel activity. An important paralog of this gene is CHRNA3.

UniProtKB/Swiss-Prot 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 PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRNB2 Gene

Genomics for CHRNB2 Gene

Regulatory Elements for CHRNB2 Gene

Promoters for CHRNB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHRNB2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHRNB2 Gene

Chromosome:
1
Start:
154,567,781 bp from pter
End:
154,580,026 bp from pter
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. Interacts with RIC3; which is required for proper folding and assembly.

    Three dimensional structures from OCA and Proteopedia for CHRNB2 Gene

neXtProt entry for CHRNB2 Gene

Proteomics data for CHRNB2 Gene at MOPED

Post-translational modifications for CHRNB2 Gene

  • Glycosylation at Asn 51, Asn 168, and Asn 485
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRNB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CHRNB2 Gene

Domains & Families for CHRNB2 Gene

Gene Families for CHRNB2 Gene

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

GENATLAS Biochemistry:
cholinergic receptor,nicotinic,beta 2 polypeptide,neuronal
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.

Gene Ontology (GO) - Molecular Function for CHRNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015276 ligand-gated ion channel activity TAS 20438829
GO:0015464 acetylcholine receptor activity IDA 8906617
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

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
Jensen Localization Image for CHRNB2 Gene COMPARTMENTS Subcellular localization image for CHRNB2 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for CHRNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA,NAS 8906617
genes like me logo Genes that share ontologies with CHRNB2: view

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:0006810 transport IEA --
GO:0006811 ion transport IEA,NAS 8906617
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nicotine Approved Pharma Antagonist, antagonist, Target, agonist 973
Ethanol Approved Pharma Target 1839
Dextromethorphan Approved Pharma Target, antagonist 122
Galantamine Approved Pharma Target, allosteric modulator 103
Acetylcysteine Approved Pharma Antioxidant;mucolytic agent 293

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(-)-Nicotine ditartrate
65-31-6
5-Iodo-A-85380 dihydrochloride
1217837-17-6
5-Iodo-A-85380, 5-trimethylstannyl N-BOC derivative
213766-21-3
RJR 2403 oxalate
220662-95-3
TC 2559 difumarate
212332-35-9
genes like me logo Genes that share compounds with CHRNB2: view

Transcripts for CHRNB2 Gene

mRNA/cDNA for CHRNB2 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(42) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CHRNB2 Gene

Cholinergic receptor, nicotinic, beta 2 (neuronal):
Representative Sequences:

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

No ASD Table

Relevant External Links for CHRNB2 Gene

GeneLoc Exon Structure for
CHRNB2
ECgene alternative splicing isoforms for
CHRNB2

Expression for CHRNB2 Gene

mRNA expression in normal human tissues 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).

SOURCE GeneReport for Unigene cluster for CHRNB2 Gene Hs.2306

genes like me logo Genes that share expression patterns with CHRNB2: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia CHRNB2 35
  • 91.62 (n)
  • 96.01 (a)
CHRNB2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHRNB2 35
  • 89.87 (n)
  • 94.55 (a)
CHRNB2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chrnb2 35
  • 87.62 (n)
  • 94.21 (a)
Chrnb2 16
Chrnb2 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHRNB2 35
  • 99.73 (n)
  • 100 (a)
CHRNB2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chrnb2 35
  • 87.83 (n)
  • 95.64 (a)
oppossum
(Monodelphis domestica)
Mammalia CHRNB2 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 91 (a)
ManyToMany
chicken
(Gallus gallus)
Aves CHRNB2 35
  • 82.76 (n)
  • 88.25 (a)
CHRNB2 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHRNB2 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chrnb2 35
  • 78.48 (n)
  • 86.08 (a)
zebrafish
(Danio rerio)
Actinopterygii chrnb2b 35
  • 74.88 (n)
  • 84.29 (a)
chrnb2b 36
  • 74 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta nAcRalpha-30D 37
  • 33 (a)
nAcRalpha-7E 37
  • 53 (a)
nAcRalpha-80B 37
  • 42 (a)
nAcRalpha-96Aa 37
  • 51 (a)
nAcRalpha-96Ab 37
  • 50 (a)
nAcRbgr-64B 37
  • 42 (a)
nAcRbgr-96A 37
  • 45 (a)
nAcRalpha-96Aa 35
  • 58.46 (n)
  • 49.67 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002974 35
  • 56.22 (n)
  • 50.33 (a)
worm
(Caenorhabditis elegans)
Secernentea acr-12 37
  • 43 (a)
acr-13 37
  • 30 (a)
acr-17 37
  • 33 (a)
acr-18 37
  • 28 (a)
acr-2 37
  • 48 (a)
acr-22 37
  • 29 (a)
acr-3 37
  • 41 (a)
acr-5 37
  • 31 (a)
acr-8 37
  • 35 (a)
deg-3 37
  • 28 (a)
F11C7.1 37
  • 29 (a)
F18G5.4 37
  • 35 (a)
lev-1 37
  • 40 (a)
unc-29 37
  • 41 (a)
unc-38 37
  • 40 (a)
unc-63 37
  • 45 (a)
Y44A6E.1 37
  • 28 (a)
Y57G11C.2 37
  • 25 (a)
Y73F8A.30 37
  • 30 (a)
ZK973.5 37
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
OneToMany
Species with no ortholog for CHRNB2:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for CHRNB2 Gene

(17) SIMAP similar genes for CHRNB2 Gene using alignment to 2 proteins:

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

Variants for CHRNB2 Gene

Sequence variations from dbSNP and Humsavar for CHRNB2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_012714 Epilepsy, nocturnal frontal lobe, 3 (ENFL3)
VAR_012715 Epilepsy, nocturnal frontal lobe, 3 (ENFL3)
rs55685423 - 154,572,014(+) GTGCA(C/G)GGGTT reference, missense
rs1126885 -- 154,575,964(+) CACCC(A/T)GCCAC utr-variant-3-prime
rs1139339 -- 154,579,074(+) GTTAT(G/T)GAAAA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
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)

Relevant External Links for CHRNB2 Gene

HapMap Linkage Disequilibrium report
CHRNB2
Human Gene Mutation Database (HGMD)
CHRNB2

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

Disorders for CHRNB2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for CHRNB2 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- 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.

Relevant External Links for CHRNB2

Genetic Association Database (GAD)
CHRNB2
Human Genome Epidemiology (HuGE) Navigator
CHRNB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHRNB2
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 K.K. … Hamer D.H. (Nicotine Tob. Res. 2002) 3 4 23 48 67
  2. Genetic interaction between alpha4 and beta2 subunits of high affinity nicotinic receptor: analysis in schizophrenia. (PMID: 16636791) De Luca V. … Kennedy J.L. (Exp Brain Res 2006) 3 23 25
  3. Neuronal nicotinic acetylcholine receptors: common molecular substrates of nicotine and alcohol dependence. (PMID: 23641218) Hendrickson L.M. … Tapper A.R. (Front Psychiatry 2013) 25 26
  4. CHRNA2 mutations are rare in the NFLE population: evaluation of a large cohort of Italian patients. (PMID: 18226955) Combi R. … Tenchini M.L. (Sleep Med. 2009) 3 23
  5. Assessment of Alzheimer's disease case-control associations using family-based methods. (PMID: 18830724) Schjeide B.M. … Bertram L. (Neurogenetics 2009) 3 23

Products for CHRNB2 Gene

Sources for CHRNB2 Gene

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