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Aliases for CHRNB2 Gene

Aliases for CHRNB2 Gene

  • Cholinergic Receptor, Nicotinic, Beta 2 (Neuronal) 2 3
  • Cholinergic Receptor, Nicotinic, Beta Polypeptide 2 (Neuronal) 2 3
  • EFNL3 3 6
  • Beta2 Human Neuronal Nicotinic Acetylcholine Receptor 3
  • Acetylcholine Receptor, Nicotinic, Beta 2 (Neuronal) 3
  • Neuronal Nicotinic Acetylcholine Receptor Beta 2 3
  • Neuronal Acetylcholine Receptor Subunit Beta-2 3
  • Acetylcholine Receptor 2
  • Beta 2 (Neuronal) 2
  • Nicotinic 2
  • NAChRB2 3

External Ids for CHRNB2 Gene

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 (Neuronal)) 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 Nanog in Mammalian ESC Pluripotency and SIDS Susceptibility Pathways. GO annotations related to this gene include acetylcholine-activated cation-selective channel activity and 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. Manipulation of the stoichiometry of alpha4beta2 nAChRs expressed in Xenopus oocytes indicates that (alpha4)3(beta2)2 nAChRs are also viable, displaying lower affinity for ACh and higher Ca2+ permeability; whether native nAChRs with this subunit stoichiometry exist is not known. Transgenic knockout of either of these subunits eliminates nicotine self administration, whereas virally targeted re-expression of the beta2 subunit in mesolimbic areas of beta2 knockout mice recovers this behavior, implicating a role for alpha4beta2 nAChRs in nicotine addiction. alpha4beta2 nAChRs are highly expressed in the thalamus and have been suggested to have a putative role in the thalamo-cortical circuitry . As a consequence of their putative role in thalamo-cortical circuitry, gain of function mutations in the M2 domain of either the alpha4 or beta2 subunit give rise to some forms of autosomal dominant nocturnal frontal lobe epilepsy. The human genes encoding the nicotinic alpha4 and beta2 receptor subunits have been localized to chromosomes 13 (q13.2-q13.3) and 1 (1q21.3) respectively.

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

Genomic Location for CHRNB2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHRNB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRNB2 Gene

Regulatory Elements 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 Asn51, Asn168, and Asn485

Other Protein References for CHRNB2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CHRNB2 Gene

Domains for CHRNB2 Gene

Gene Families for CHRNB2 Gene

HGNC:
  • CHRN :Ligand-gated ion channels / Acetylcholine receptors, nicotinic
  • CHR :Cholinergic receptors
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

P17787

UniProtKB/Swiss-Prot:

ACHB2_HUMAN
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.:
    • P17787
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:0004889 acetylcholine-activated cation-selective channel activity TAS 20438829
GO:0005230 extracellular ligand-gated ion channel activity --
GO:0005515 protein binding --
GO:0008144 drug binding IEA --
GO:0015276 ligand-gated ion channel activity TAS 20438829
genes like me logo Genes that share ontologies with CHRNB2: view
genes like me logo Genes that share phenotypes with CHRNB2: view

Animal Models for CHRNB2 Gene

MGI Knock Outs for CHRNB2:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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:0005886 plasma membrane TAS --
GO:0005892 acetylcholine-gated channel complex IDA 8906617
GO:0009897 external side of plasma membrane ISS --
GO:0016020 membrane --
GO:0016021 integral component of membrane NAS 8906617
genes like me logo Genes that share ontologies with CHRNB2: view

Pathways 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 IDA 12189247
GO:0006810 transport --
GO:0006811 ion transport NAS 8906617
genes like me logo Genes that share ontologies with CHRNB2: view

Compounds for CHRNB2 Gene

(5) Tocris Compounds for CHRNB2 Gene

Compound Action Cas Number
(-)-Nicotine ditartrate Prototypical nAChR agonist [65-31-6]
Desformylflustrabromine hydrochloride Positive allosteric modulator of alpha4beta2 [474657-72-2]
RJR 2403 oxalate alpha4beta2 selective nicotinic agonist [220662-95-3]
Sazetidine A dihydrochloride alpha4beta2 receptor ligand; may act as an agonist or a desensitizer [1197329-42-2]
Varenicline tartrate Orally active, subtype-selective alpha4beta2 partial agonist [375815-87-5]

(2) Drugbank Compounds for CHRNB2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Galantamine
  • (-)-Galanthamine
357-70-0 target allosteric modulator
Nicotine
  • L-Nicotine
54-11-5 target agonist

(4) Novoseek inferred chemical compound relationships for CHRNB2 Gene

Compound -log(P) Hits PubMed IDs
nicotine 65.1 8
acetylcholine 26.9 2
sodium 0 2
potassium 0 2
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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Cortex (6.9), Brain - Anterior cingulate cortex (BA24) (5.7), Brain - Frontal Cortex (BA9) (5.7), Brain - Putamen (basal ganglia) (4.2), Brain - Hippocampus (4.1), and Brain - Nucleus accumbens (basal ganglia) (4.1).

SOURCE GeneReport for Unigene cluster for CHRNB2 Gene Hs.2306

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

No data available for Protein expression 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 35
  • 99.73 (n)
  • 100 (a)
CHRNB2 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia CHRNB2 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 91 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Chrnb2 35
  • 87.83 (n)
  • 95.64 (a)
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
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002974 35
  • 56.22 (n)
  • 50.33 (a)
fruit fly
(Drosophila melanogaster)
Insecta nAcRalpha-96Aa 35
  • 58.46 (n)
  • 49.67 (a)
nAcRalpha-96Aa 37
  • 51 (a)
nAcRalpha-96Ab 37
  • 50 (a)
nAcRalpha-30D 37
  • 33 (a)
nAcRbgr-96A 37
  • 45 (a)
nAcRalpha-80B 37
  • 42 (a)
nAcRalpha-7E 37
  • 53 (a)
nAcRbgr-64B 37
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea deg-3 37
  • 28 (a)
Y57G11C.2 37
  • 25 (a)
Y44A6E.1 37
  • 28 (a)
acr-2 37
  • 48 (a)
acr-13 37
  • 30 (a)
lev-1 37
  • 40 (a)
acr-5 37
  • 31 (a)
unc-63 37
  • 45 (a)
acr-3 37
  • 41 (a)
acr-12 37
  • 43 (a)
Y73F8A.30 37
  • 30 (a)
acr-18 37
  • 28 (a)
unc-29 37
  • 41 (a)
unc-38 37
  • 40 (a)
F18G5.4 37
  • 35 (a)
acr-22 37
  • 29 (a)
F11C7.1 37
  • 29 (a)
ZK973.5 37
  • 35 (a)
acr-17 37
  • 33 (a)
acr-8 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

Selected 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 MAF
rs1126885 -- 154,575,964(+) CACCC(A/T)GCCAC utr-variant-3-prime
rs1139339 -- 154,579,074(+) GTTAT(G/T)GAAAA utr-variant-3-prime
rs2072658 -- 154,567,749(+) TTCCT(A/G)GGACC upstream-variant-2KB
rs2072659 -- 154,576,045(+) CAGAT(C/G)CATCC utr-variant-3-prime
rs2072660 -- 154,576,245(+) AGTGA(C/T)GGGCA 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

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

(1) OMIM Diseases for CHRNB2 Gene (118507)

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.

(3) University of Copenhagen DISEASES for CHRNB2 Gene

(7) Novoseek inferred disease relationships for CHRNB2 Gene

Disease -log(P) Hits PubMed IDs
epilepsy frontal lobe 94.2 13
seizures febrile 55.9 2
epilepsy 53.9 4
epilepsy generalized 53.7 1
smoking habit 53.7 5

Relevant External Links for CHRNB2

GeneTests
CHRNB2
GeneReviews
CHRNB2
Genetic Association Database (GAD)
CHRNB2
Human Genome Epidemiology (HuGE) Navigator
CHRNB2
genes like me logo Genes that share disorders with CHRNB2: view

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
  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 48
  3. Association of novel and established polymorphisms in neuronal nicotinic acetylcholine receptors with sporadic Alzheimer's disease. (PMID: 12214130) Kawamata J. … Shimohama S. (J. Alzheimers Dis. 2002) 3 23 48
  4. The structures of the human neuronal nicotinic acetylcholine receptor beta2- and alpha3-subunit genes (CHRNB2 and CHRNA3). (PMID: 9921897) Rempel N. … Steinlein O.K. (Hum. Genet. 1998) 3 4 23
  5. Genomic organization and mapping of the human and mouse neuronal beta2-nicotinic acetylcholine receptor genes. (PMID: 10441742) Lueders K.K. … Hamer D. (Mamm. Genome 1999) 3 4 23

Products for CHRNB2 Gene

Sources for CHRNB2 Gene

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