Free for academic non-profit institutions. Other users need a Commercial license

CHRNB2 Gene(Protein Coding)

Cholinergic Receptor Nicotinic Beta 2 Subunit

GCID:
GC01P154540
GIFtS:
65
Genes Participants
UDN Logo

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
  • Cholinergic Receptor, Nicotinic Beta 2 2 3
  • Beta2 Human Neuronal Nicotinic Acetylcholine Receptor 3
  • Neuronal Nicotinic Acetylcholine Receptor Beta 2 3
  • Neuronal Acetylcholine Receptor Subunit Beta-2 3
  • 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 Circadian rythm related genes and Sudden Infant Death Syndrome (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 CHRNB4.

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 CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRNB2 Gene

Genomics for CHRNB2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for CHRNB2 Gene

Enhancers for CHRNB2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G154950 1.6 Ensembl ENCODE dbSUPER 21.1 +386.9 386948 8.7 FOXA2 PKNOX1 ZFP64 ARID4B SIN3A YY1 FOS ZNF263 NFYC REST KIAA0907 MSTO2P ENSG00000271267 THBS3 ASH1L CHRNB2 RUSC1-AS1 LOC101928120 PYGO2 RPS27
GH01G154606 1.7 FANTOM5 ENCODE dbSUPER 17.9 +40.7 40684 4.1 HDGF ARNT WRNIP1 ARID4B SIN3A FEZF1 YBX1 ZNF2 YY1 ZNF143 CHRNB2 ENSG00000271267 RUSC1-AS1 CHTOP DPM3 EFNA4 UBE2Q1 DCST1 UBE2Q1-AS1 THBS3
GH01G154324 1.7 FANTOM5 ENCODE dbSUPER 12.7 -240.7 -240666 5.7 HDGF PKNOX1 CREB3L1 AGO1 WRNIP1 ZFP64 ARID4B SIN3A ZNF2 YY1 CHTOP SLC27A3 THBS3 INTS3 RUSC1-AS1 LOC101928120 ENSG00000238279 PYGO2 RPS27 CHRNB2
GH01G154483 1.5 Ensembl ENCODE dbSUPER 11.4 -82.3 -82274 3.2 GLI4 ZNF2 YY1 GLIS2 GATA2 KLF7 FOS SP3 JUNB TSHZ1 UBE2Q1-AS1 UBE2Q1 CHRNB2 RNU7-57P ATP8B2 ADAR IL6R SHE GBA ENSG00000273110
GH01G155242 1.5 ENCODE dbSUPER 11.1 +676.5 676462 2.9 CREB3L1 FEZF1 YBX1 YY1 ZNF416 ZNF143 ZNF548 ZNF263 SP3 TBX21 KIAA0907 ENSG00000271267 RUSC1-AS1 MSTO2P ASH1L THBS3 PYGO2 LOC101928120 GBA BGLAP
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CHRNB2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the CHRNB2 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for CHRNB2 Gene

Proteins for CHRNB2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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 pentamer alpha3-beta-2 interacts with the conotoxin BuIA and the conotoxin 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, posLast=168168, and Asn485
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRNB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cloud-Clone Corp. 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 :

Protein Domains for CHRNB2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CHRNB2 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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: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 --
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

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
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

Gene Ontology (GO) - Cellular Components for CHRNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0005892 acetylcholine-gated channel complex IDA 8906617
GO:0009897 external side of plasma membrane ISS,IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS,IEA 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 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

Products:

  1. Drug

(56) 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, antagonist, Target, agonist 1103
Ethanol Approved Pharma Target 2137
Varenicline Approved, Investigational Pharma agonist α4β2 nAChRs antagonist 273
Dextromethorphan Approved Pharma Target, antagonist 133
Galantamine Approved Pharma Target, allosteric modulator 106

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(-)-Nicotine ditartrate
65-31-6
A 85380 dihydrochloride
174740-86-4
NS 9283
913830-15-6

(5) Tocris Compounds for CHRNB2 Gene

Compound Action Cas Number
(-)-Nicotine ditartrate Prototypical nAChR agonist 65-31-6
A 85380 dihydrochloride High affinity and selective alpha4beta2 agonist 174740-86-4
Desformylflustrabromine hydrochloride Positive allosteric modulator of alpha4beta2; also muscle-type nAChR inhibitor 951322-11-5
NS 9283 Positive allosteric modulator of alpha4beta2 913830-15-6
Varenicline tartrate Orally active, subtype-selective alpha4beta2 partial agonist 375815-87-5

(40) ApexBio Compounds for CHRNB2 Gene

Compound Action Cas Number
3-pyr-Cytisine α4β2 receptors agonist 948027-43-8
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

Transcripts for CHRNB2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CHRNB2 Gene

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

Unigene Clusters for CHRNB2 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Products:

  1. Primer

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

mRNA expression in normal human tissues for CHRNB2 Gene
mRNA expression by BioGPS for CHRNB2 GenemRNA expression by GTEx 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).

NURSA nuclear receptor signaling pathways regulating expression of CHRNB2 Gene:

CHRNB2

SOURCE GeneReport for Unigene cluster for CHRNB2 Gene:

Hs.2306

Evidence on tissue expression from TISSUES for CHRNB2 Gene

  • Nervous system(4.7)

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

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

Primer Products

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 34 35
  • 99.73 (n)
cow
(Bos Taurus)
 Mammalia CHRNB2 34 35
  • 91.62 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 35
  • 91 (a)
 ManyToMany
dog
(Canis familiaris)
 Mammalia CHRNB2 34 35
  • 89.87 (n)
oppossum
(Monodelphis domestica)
 Mammalia CHRNB2 35
  • 88 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Chrnb2 34
  • 87.83 (n)
mouse
(Mus musculus)
 Mammalia Chrnb2 34 16 35
  • 87.62 (n)
chicken
(Gallus gallus)
 Aves CHRNB2 34 35
  • 82.76 (n)
lizard
(Anolis carolinensis)
 Reptilia CHRNB2 35
  • 82 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia chrnb2 34
  • 78.48 (n)
zebrafish
(Danio rerio)
 Actinopterygii chrnb2b 34 35
  • 74.88 (n)
fruit fly
(Drosophila melanogaster)
 Insecta nAcRalpha-96Aa 36 34
  • 58.46 (n)
nAcRalpha-7E 36
  • 53 (a)
nAcRalpha-96Ab 36
  • 50 (a)
nAcRbgr-96A 36
  • 45 (a)
nAcRalpha-80B 36
  • 42 (a)
nAcRbgr-64B 36
  • 42 (a)
nAcRalpha-30D 36
  • 33 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP002974 34
  • 56.22 (n)
worm
(Caenorhabditis elegans)
 Secernentea acr-2 36
  • 48 (a)
unc-63 36
  • 45 (a)
acr-12 36
  • 43 (a)
acr-3 36
  • 41 (a)
unc-29 36
  • 41 (a)
lev-1 36
  • 40 (a)
unc-38 36
  • 40 (a)
acr-8 36
  • 35 (a)
F18G5.4 36
  • 35 (a)
ZK973.5 36
  • 35 (a)
acr-17 36
  • 33 (a)
acr-5 36
  • 31 (a)
acr-13 36
  • 30 (a)
Y73F8A.30 36
  • 30 (a)
acr-22 36
  • 29 (a)
F11C7.1 36
  • 29 (a)
acr-18 36
  • 28 (a)
deg-3 36
  • 28 (a)
Y44A6E.1 36
  • 28 (a)
Y57G11C.2 36
  • 25 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 54 (a)
 OneToMany
Species where no ortholog for CHRNB2 was found in the sources mined by GeneCards:
  • 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

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
rs2072661 drug-response 154,576,404(+) TGGGT(A/G)TGACC nc-transcript-variant, utr-variant-3-prime
rs74315291 Pathogenic, Epilepsy, nocturnal frontal lobe, 3 (ENFL3) [MIM:605375], Epilepsy, nocturnal frontal lobe, 3 (ENFL3) [MIM:605375] 154,571,682(+) AGATC(A/C/G/T)TGCCT nc-transcript-variant, reference, missense
rs281865069 Pathogenic 154,571,724(+) AGTAC(C/G)TCATG nc-transcript-variant, reference, missense
rs281865070 Pathogenic 154,571,746(+) GCTTG(C/T)CACCT nc-transcript-variant, reference, missense
rs281865071 Pathogenic 154,571,759(+) TCCAT(C/G)GTCAC nc-transcript-variant, reference, missense

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
epilepsy, nocturnal frontal lobe, 3
  • autosomal dominant nocturnal frontal lobe epilepsy 3
chrnb2-related nocturnal frontal lobe epilepsy, autosomal dominant
  • adnfle type 3
autosomal dominant nocturnal frontal lobe epilepsy
  • epilepsy, nocturnal frontal lobe, 1
epilepsy, nocturnal frontal lobe, 1
  • autosomal dominant nocturnal frontal lobe epilepsy 1
epilepsy
  • epilepsy syndrome
- 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 22 46 64
  2. 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 22 46 64
  3. 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 22 46 64
  4. Assessment of Alzheimer's disease case-control associations using family-based methods. (PMID: 18830724) Schjeide B.M. … Bertram L. (Neurogenetics 2009) 3 22 46 64
  5. A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy. (PMID: 19058950) Chen Y. … Xu Q. (Epilepsy Res. 2009) 3 22 46 64

Products for CHRNB2 Gene

  • Cloud-Clone Corp. Antibodies for CHRNB2
  • Cloud-Clone Corp. Proteins for CHRNB2
  • Cloud-Clone Corp Assay Kits for CHRNB2

Sources for CHRNB2 Gene

Content
Loading form....