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Aliases for CHRNB3 Gene

Aliases for CHRNB3 Gene

  • Cholinergic Receptor, Nicotinic, Beta 3 (Neuronal) 2 3
  • Cholinergic Receptor, Nicotinic, Beta Polypeptide 3 2
  • Acetylcholine Receptor 2
  • Beta 3 (Neuronal) 2
  • Nicotinic 2

External Ids for CHRNB3 Gene

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 (Neuronal)) is a Protein Coding gene. Diseases associated with CHRNB3 include epilepsy with generalized tonic-clonic seizures and juvenile absence epilepsy. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Transmission across Chemical Synapses. GO annotations related to this gene include acetylcholine-activated cation-selective channel activity and acetylcholine binding. An important paralog of this gene is CHRNA3.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRNB3 Gene

Genomics for CHRNB3 Gene

Genomic Location for CHRNB3 Gene

Start:
42,697,376 bp from pter
End:
42,737,407 bp from pter
Size:
40,032 bases
Orientation:
Plus strand

Genomic View for CHRNB3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHRNB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRNB3 Gene

Regulatory Elements 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

Proteomics data for CHRNB3 Gene at MOPED

Post-translational modifications for CHRNB3 Gene

  • Glycosylation at Asn51, Asn138, and Asn166

Other Protein References for CHRNB3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CHRNB3 Gene

Domains for CHRNB3 Gene

Gene Families for CHRNB3 Gene

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

UniProtKB/Swiss-Prot:

ACHB3_HUMAN
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.:
    • Q05901
genes like me logo Genes that share domains with CHRNB3: view

Function for CHRNB3 Gene

Molecular function for CHRNB3 Gene

GENATLAS Biochemistry: cholinergic receptor,nicotinic,beta 3 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

Gene Ontology (GO) - Molecular Function for CHRNB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004889 acetylcholine-activated cation-selective channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity --
GO:0008144 drug binding IEA --
GO:0015267 channel activity TAS 7690916
GO:0042166 acetylcholine binding IEA --
genes like me logo Genes that share ontologies with CHRNB3: view

Phenotypes for CHRNB3 Gene

MGI mutant phenotypes for CHRNB3:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with CHRNB3: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for CHRNB3 Gene COMPARTMENTS Subcellular localization image for CHRNB3 gene
Compartment Confidence
plasma membrane 5
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:0005892 acetylcholine-gated channel complex IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane NAS 8906617
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with CHRNB3: view

Pathways for CHRNB3 Gene

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

Interacting Proteins for CHRNB3 Gene

Gene Ontology (GO) - Biological Process for CHRNB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 7690916
GO:0006811 ion transport --
GO:0006812 cation transport TAS 7690916
GO:0007165 signal transduction TAS 7690916
GO:0007268 synaptic transmission TAS --
genes like me logo Genes that share ontologies with CHRNB3: view

Compounds for CHRNB3 Gene

(2) Drugbank Compounds for CHRNB3 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
genes like me logo Genes that share compounds with CHRNB3: view

Transcripts for CHRNB3 Gene

mRNA/cDNA for CHRNB3 Gene

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

Unigene Clusters for CHRNB3 Gene

Cholinergic receptor, nicotinic, beta 3 (neuronal):
Representative Sequences:

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
ECgene alternative splicing isoforms for
CHRNB3

Expression for CHRNB3 Gene

mRNA expression in normal human tissues for CHRNB3 Gene

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

This gene is overexpressed in Brain - Substantia nigra (15.4), Brain - Cerebellar Hemisphere (11.1), Brain - Cerebellum (8.5), and Pancreas (5.7).

SOURCE GeneReport for Unigene cluster for CHRNB3 Gene Hs.654576

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

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 36
  • 99.64 (n)
  • 100 (a)
CHRNB3 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHRNB3 36
  • 82.68 (n)
  • 90.17 (a)
CHRNB3 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHRNB3 36
  • 86 (n)
  • 91.68 (a)
CHRNB3 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chrnb3 36
  • 81.98 (n)
  • 88.69 (a)
Chrnb3 16
Chrnb3 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHRNB3 37
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHRNB3 37
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chrnb3 36
  • 82.58 (n)
  • 88.91 (a)
chicken
(Gallus gallus)
Aves CHRNB3 36
  • 75.19 (n)
  • 85.33 (a)
CHRNB3 37
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHRNB3 37
  • 86 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia chrnb3-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia chrnb3 36
  • 71.67 (n)
  • 82.78 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 36
chrnb3a 36
  • 69.63 (n)
  • 79 (a)
chrnb3a 37
  • 74 (a)
OneToMany
chrnb3b 37
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta nAcRalpha-96Aa 38
  • 53 (a)
nAcRalpha-96Ab 38
  • 48 (a)
nAcRalpha-30D 38
  • 44 (a)
nAcRbgr-96A 38
  • 43 (a)
nAcRbgr-21C 38
  • 30 (a)
nAcRalpha-7E 38
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea acr-2 38
  • 40 (a)
acr-13 38
  • 32 (a)
lev-1 38
  • 38 (a)
unc-63 38
  • 44 (a)
acr-3 38
  • 38 (a)
Y73F8A.30 38
  • 29 (a)
acr-14 38
  • 28 (a)
unc-29 38
  • 37 (a)
F18G5.4 38
  • 31 (a)
acr-22 38
  • 29 (a)
ZK973.5 38
  • 35 (a)
acr-8 38
  • 32 (a)
Species with no ortholog for CHRNB3:
  • 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)

Paralogs for CHRNB3 Gene

Selected SIMAP similar genes for CHRNB3 Gene using alignment to 1 proteins:

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

Variants for CHRNB3 Gene

Sequence variations from dbSNP and Humsavar for CHRNB3 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs4950 -- 42,697,490(-) TTCCA(C/T)TGGAA utr-variant-5-prime
rs4951 -- 42,708,414(+) TGAGC(C/T)GAGAT intron-variant
rs4952 -- 42,731,922(+) CTGAA(C/T)GCAAA reference, synonymous-codon
rs4953 -- 42,732,516(+) ATTTC(C/G)AGACA synonymous-codon, reference
rs4954 -- 42,732,653(+) GTGAC(A/G)TTATA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2666038 CNV Deletion 23128226
esv2668251 CNV Deletion 23128226
nsv397520 CNV Loss 16902084
esv2662041 CNV Deletion 23128226

Relevant External Links for CHRNB3 Gene

HapMap Linkage Disequilibrium report
CHRNB3
Human Gene Mutation Database (HGMD)
CHRNB3

Disorders for CHRNB3 Gene

Relevant External Links for CHRNB3

Genetic Association Database (GAD)
CHRNB3
Human Genome Epidemiology (HuGE) Navigator
CHRNB3
genes like me logo Genes that share disorders with CHRNB3: view

No data available for UniProtKB/Swiss-Prot 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 J.F. … Bertrand D. (Addict Behav 2009) 3 23 49
  2. Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans. (PMID: 1505988) Anand R. … Lindstrom J. (Genomics 1992) 2 3
  3. Molecular cloning of a human neuronal nicotinic acetylcholine receptor beta 3-like subunit. (PMID: 7690916) Willoughby J.J. … Wood J.N. (Neurosci. Lett. 1993) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Why do young women smoke? I. Direct and interactive effects of environment, psychological characteristics and nicotinic cholinergic receptor genes. (PMID: 16314871) Greenbaum L. … Lerer B. (Mol. Psychiatry 2006) 3 49

Products for CHRNB3 Gene

Sources for CHRNB3 Gene

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