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CHRNB2 Gene

protein-coding   GIFtS: 63
GCID: GC01P154540

Cholinergic Receptor, Nicotinic, Beta 2 (Neuronal)

(Previous names: cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal))
  See CHRNB2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cholinergic Receptor, Nicotinic, Beta 2 (Neuronal)1 2     Acetylcholine Receptor, Nicotinic, Beta 2 (Neuronal)2
Cholinergic Receptor, Nicotinic, Beta Polypeptide 2 (Neuronal)1 2     Beta2 Human Neuronal Nicotinic Acetylcholine Receptor2
EFNL32 5     nAChRB22
Acetylcholine Receptor1     Neuronal Acetylcholine Receptor Subunit Beta-22
Beta 2 (Neuronal)1     Neuronal Nicotinic Acetylcholine Receptor Beta 22
nicotinic1     

External Ids:    HGNC: 19621   Entrez Gene: 11412   Ensembl: ENSG000001607167   OMIM: 1185075   UniProtKB: P177873   

Export aliases for CHRNB2 gene to outside databases

Previous GC identifers: GC01P152356 GC01P150271 GC01P151315 GC01P151758 GC01P151759 GC01P151353 GC01P152806 GC01P125903


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 CHRNA4.

UniProtKB/Swiss-Prot: ACHB2_HUMAN, P17787
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

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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHRNB2 gene promoter:
         AhR   Egr-3   HOXA3   NRSF form 1   CUTL1   NRSF form 2   Evi-1   GATA-2   Arnt   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHRNB2 promoter sequence
   Search Chromatin IP Primers for CHRNB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHRNB2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21.3   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21.3

CHRNB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHRNB2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P154540:  view genomic region     (about GC identifiers)

Start:
154,540,257 bp from pter      End:
154,552,502 bp from pter
Size:
12,246 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ACHB2_HUMAN, P17787 (See protein sequence)
Recommended Name: Neuronal acetylcholine receptor subunit beta-2 precursor  
Size: 502 amino acids; 57019 Da
Subunit: 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
5 PDB 3D structures from and Proteopedia for CHRNB2:
2GVT (3D)        2K58 (3D)        2K59 (3D)        2KSR (3D)        2LM2 (3D)    
Secondary accessions: Q9UEH9

Explore the universe of human proteins at neXtProt for CHRNB2: NX_P17787

Explore proteomics data for CHRNB2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn51, Asn168, Asn485

  • See CHRNB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000739.1  
    ENSEMBL proteins: 
     ENSP00000357461  
    Reactome Protein details: P17787

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CHRN: Ligand-gated ion channels / Acetylcholine receptors, nicotinic
    CHR: Cholinergic receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: beta2
    Nicotinic acetylcholine receptors

    Selected InterPro protein domains (see all 6):
     IPR027361 Acetylcholine_rcpt_TM
     IPR002394 Nicotinic_acetylcholine_rcpt
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006201 Neur_channel
     IPR006202 Neur_chan_lig-bd

    Graphical View of Domain Structure for InterPro Entry P17787

    ProtoNet protein and cluster: P17787

    2 Blocks protein domains:
    IPB002394 Nicotinic acetylcholine receptor signature
    IPB006201 Neurotransmitter-gated ion-channel


    UniProtKB/Swiss-Prot: ACHB2_HUMAN, P17787
    Similarity: 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


    Find genes that share domains with CHRNB2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACHB2_HUMAN, P17787
    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 entry for CHRNB2:
    cholinergic receptor,nicotinic,beta 2 polypeptide,neuronal

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004889acetylcholine-activated cation-selective channel activity TAS--
    GO:0005230extracellular ligand-gated ion channel activity ----
    GO:0005515protein binding ----
    GO:0008144drug binding IEA--
    GO:0015276ligand-gated ion channel activity TAS--
         
    Find genes that share ontologies with CHRNB2           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 2 alleles(MGI details for Chrnb2) (see all 16):
     behavior/neurological  craniofacial  digestive/alimentary  growth/size/body  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  immune system  integument  mortality/aging 
     muscle  nervous system  normal  renal/urinary system  respiratory system 

    Find genes that share phenotypes with CHRNB2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Chrnb2tm1Mdb for CHRNB2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHRNB2
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    hsa-miR-676 hsa-miR-148b hsa-miR-301a hsa-miR-486-3p hsa-miR-3684 hsa-miR-650 hsa-miR-130b hsa-miR-3612
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACHB2_HUMAN, P17787: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005892acetylcholine-gated channel complex IDA8906617
    GO:0009897external side of plasma membrane ISS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane NAS8906617

    Find genes that share ontologies with CHRNB2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CHRNB2 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
    Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics0.44
    Nicotine Activity on Dopaminergic Neurons0.44
    2Activation of Nicotinic Acetylcholine Receptors
    Activation of Nicotinic Acetylcholine Receptors
    Highly calcium permeable postsynaptic nicotinic acetylcholine receptors0.00
    Presynaptic nicotinic acetylcholine receptors0.00
    Postsynaptic nicotinic acetylcholine receptors0.00
    Highly calcium permeable nicotinic acetylcholine receptors0.00
    Highly sodium permeable acetylcholine nicotinic receptors0.00
    Acetylcholine Binding And Downstream Events0.00
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    4Nanog in Mammalian ESC Pluripotency
    eNOS Signaling0.48
    5Circadian entrainment
    Cholinergic synapse0.37


    Find genes that share SuperPaths with CHRNB2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for CHRNB2
        eNOS Signaling

    2 BioSystems Pathways for CHRNB2
        SIDS Susceptibility Pathways
    Nicotine Activity on Dopaminergic Neurons

    3 Reactome Pathways for CHRNB2
        Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
    Highly calcium permeable nicotinic acetylcholine receptors
    Highly sodium permeable acetylcholine nicotinic receptors

    1 PharmGKB Pathway for CHRNB2
        Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics

    3 Kegg Pathways  (Kegg details for CHRNB2):
        Neuroactive ligand-receptor interaction
    Cholinergic synapse
    Nicotine addiction

        Pathway & Disease-focused RT2 Profiler PCR Array including CHRNB2: 
              Circadian Rhythms in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CHRNB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for CHRNB2 (P177873 ENSP000003574614) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHRNA2Q158223, ENSP000002401324I2D: score=2 STRING: ENSP00000240132
    CHRNA4P436813, ENSP000003592854I2D: score=2 STRING: ENSP00000359285
    CRELD2Q6UXH13, ENSP000003839384I2D: score=1 STRING: ENSP00000383938
    PRKAA1Q131313I2D: score=1 
    CHRNA3ENSP000003156024STRING: ENSP00000315602
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 47):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001508action potential IEA--
    GO:0001661conditioned taste aversion IEA--
    GO:0001666response to hypoxia IDA12189247
    GO:0006810transport ----
    GO:0006811ion transport NAS8906617

    Find genes that share ontologies with CHRNB2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Compounds for CHRNB2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    RJR 2403 oxalatealpha4beta2 selective nicotinic agonist[220662-95-3]
    Desformylflustrabromine hydrochloridePositive allosteric modulator of alpha4beta2[474657-72-2]
    (-)-Nicotine ditartratePrototypical nAChR agonist[65-31-6]
    Varenicline tartrate Orally active, subtype-selective alpha4beta2 partial agonist [375815-87-5]
    Sazetidine A dihydrochloridealpha4beta2 receptor ligand; may act as an agonist or a desensitizer[1197329-42-2]

    2 DrugBank Compounds for CHRNB2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Galantamine(-)-Galanthamine (see all 3)357-70-0targetallosteric modulator12137632 11129124 12481195 20480924 12177686 10971048
    NicotineL-Nicotine (see all 2)54-11-5targetagonist19560048 20081230 17226798 16636791 20400469 11006350

    4 Novoseek inferred chemical compound relationships for CHRNB2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nicotine 65.1 9 11054772 (3), 19755656 (2), 15154117 (1), 11906688 (1) (see all 5)
    acetylcholine 26.9 2 15964197 (1), 17008177 (1)
    sodium 0 2 16038283 (1), 11579435 (1)
    potassium 0 3 16038283 (1), 11579435 (1)



    Find genes that share compounds with CHRNB2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CHRNB2 gene: 
    NM_000748.2  

    Unigene Cluster for CHRNB2:

    Cholinergic receptor, nicotinic, beta 2 (neuronal)
    Hs.2306  [show with all ESTs]
    Unigene Representative Sequence: NM_000748
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000368476(uc001ffg.3)
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    Additional mRNA sequence: 

    AK313470.1 BC075040.2 BC075041.2 U62437.1 X53179.1 Y08415.1 

    1 DOTS entry:

    DT.100752185 

    Selected AceView cDNA sequences (see all 42):

    BQ071347 BX951882 NM_000748 F12988 BE796482 U62437 Y08415 BQ719128 
    X53179 BC075040 BC075041 BE796758 BG472114 BG820708 C05589 BX505019 
    AI808724 AL712090 BX283415 AI263160 BX493862 BF528224 BE261002 AA211404 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CHRNB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGTTGTCTTT
    CHRNB2 Expression
    About this image


    CHRNB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Midbrain tegmentum
    CHRNB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHRNB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.2306
        Pathway & Disease-focused RT2 Profiler PCR Array including CHRNB2: 
              Circadian Rhythms in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CHRNB2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chrnb21 , 5 cholinergic receptor, nicotinic, beta polypeptide 2 more1, 5 87.62(n)1
    94.21(a)1
      3 (39.19 cM)5
    114441  NM_009602.41  NP_033732.21 
     897534485 
    chicken
    (Gallus gallus)
    Aves CHRNB21 cholinergic receptor, nicotinic, beta 2 (neuronal) 82.76(n)
    88.25(a)
      395605  NM_204813.1  NP_990144.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHRNB26
    cholinergic receptor, nicotinic, beta 2 (neuronal)...
    82(a)
    1 ↔ 1
    GL344076.1(74115-84434)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia chrnb21 cholinergic receptor, nicotinic, beta 2 (neuronal) 78.48(n)
    86.08(a)
      100101688  NM_001100214.1  NP_001093684.1 
    zebrafish
    (Danio rerio)
    Actinopterygii chrnb2b1 cholinergic receptor, nicotinic, beta 2b 74.88(n)
    84.29(a)
      561906  XM_005169754.1  XP_005169811.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta nAcRalpha-7E3
    nAcRalpha-96Aa1
    nicotinic acetylcholine-activated
    cation-selective more3
    nicotinic Acetylcholine Receptor alpha 96Aa1
    53(a)
    (best of 7)3
    58.46(n)1
    49.67(a)1
      429181  NM_079757.41  NP_524481.21 


    ENSEMBL Gene Tree for CHRNB2 (if available)
    TreeFam Gene Tree for CHRNB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CHRNB2 gene
    CHRNA42  CHRNA52  CHRNA22  CHRNA12  CHRNA62  CHRNG2  CHRNA32  CHRNE2  
    CHRND2  CHRNB32  CHRNB12  CHRNB42  
    17 SIMAP similar genes for CHRNB2 using alignment to 2 protein entries:     ACHB2_HUMAN (see all proteins):
    CHRNB4    CHRNA6    CHRNA7-2    CHRNA3    CHRNA2    CHRNB3
    CHRNA1    CHRNA5    CHRNA7    CHRNA9    CHRND    CHRFAM7A
    CHRNE    CHRNA10    CHRNB1    CHRNG    HTR3A

    Find genes that share paralogs with CHRNB2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CHRNB2 (see all 674)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0127144
    Epilepsy, nocturnal frontal lobe, 3 (ENFL3)4--see VAR_0127142 V L mis40--------
    VAR_0127154
    Epilepsy, nocturnal frontal lobe, 3 (ENFL3)4--see VAR_0127152 V M mis40--------
    rs743152911,2
    Cpathogenic1161046215(+) AGATCA/C/G/
            
    TGCCT
    4 M L V mis10--------
    rs38410621,2
    C--154550944(+) ATGAC-/AGAGCTA 1 -- ut312Minor allele frequency- AG:0.25NA 4
    rs38410631,2
    C--154552517(+) ATCAC-/TGTGATT 1 -- ds50010--------
    rs1920153031,2
    --154552605(+) GGCCCA/CCGGGA 1 -- ds50010--------
    rs1841670311,2
    --154552606(+) GCCCCA/CGGGAG 1 -- ds50010--------
    rs1432877991,2
    --154552632(+) TGGGCA/GGAGGT 1 -- ds50010--------
    rs751950331,2
    C,F--154552837(+) TCTTGC/TGCTCC 1 -- ds50011Minor allele frequency- T:0.03WA 118
    rs1821891771,2
    --161040520(+) TTAAGG/TCTTTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CHRNB2 (154540257 - 154552502 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CHRNB2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv521887CNV Gain19592680

    Human Gene Mutation Database (HGMD): CHRNB2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CHRNB2
    DNA2.0 Custom Variant and Variant Library Synthesis for CHRNB2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 118507   
    OMIM disorders: 605375  
    UniProtKB/Swiss-Prot: ACHB2_HUMAN, P17787
  • 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 10 diseases for CHRNB2:    
    About MalaCards
    epilepsy, nocturnal frontal lobe, 3    chrnb2-related nocturnal frontal lobe epilepsy, autosomal dominant    frontal lobe epilepsy    nicotine addiction
    early onset absence epilepsy    autosomal dominant nocturnal frontal lobe epilepsy    epilepsy, nocturnal frontal lobe, 1    eosinophilia-myalgia syndrome
    nicotine dependence    schizophrenia

    3 diseases from the University of Copenhagen DISEASES database for CHRNB2:
    Nicotine dependence     Focal epilepsy     Early onset absence epilepsy

    Find genes that share disorders with CHRNB2           About GenesLikeMe

    7 Novoseek inferred disease relationships for CHRNB2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epilepsy frontal lobe 94.2 14 11952766 (2), 17900292 (2), 17602836 (1), 18534914 (1) (see all 11)
    seizures febrile 55.9 2 19853223 (1), 11579435 (1)
    epilepsy 53.9 4 15964197 (1), 17385675 (1), 19853223 (1), 11579435 (1)
    epilepsy generalized 53.7 1 11579435 (1)
    smoking habit 53.7 5 11054772 (2), 15154117 (1), 11906688 (1), 15790597 (1)
    alzheimers disease 29.9 1 17192785 (1)
    schizophrenia 27.5 3 18762859 (3)

    GeneTests: CHRNB2
    GeneReviews: CHRNB2
    Genetic Association Database (GAD): CHRNB2
    Human Genome Epidemiology (HuGE) Navigator: CHRNB2 (42 documents)

    Export disorders for CHRNB2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CHRNB2 gene, integrated from 10 sources (see all 126):
    (articles sorted by number of sources associating them with CHRNB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic and functional analysis of single nucleotide polymorphisms in the beta2-neuronal nicotinic acetylcholine receptor gene (CHRNB2). (PubMed id 11906688)1, 2, 4, 9 Lueders K.K....Hamer D.H. (Nicotine Tob. Res. 2002)
    2. Genetic interaction between alpha4 and beta2 subunits of high affinity nicotinic receptor: analysis in schizophrenia. (PubMed id 16636791)1, 4, 7, 9 De Luca V....Kennedy J.L. (Exp Brain Res 2006)
    3. Association of the neuronal nicotinic receptor beta2 subunit gene (CHRNB2) with subjective responses to alcohol and nicotine. (PubMed id 17226798)1, 4, 7 Ehringer M.A....Zeiger J.S. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007)
    4. Genetic association analysis of tagging SNPs in alpha4 and beta2 subunits of neuronal nicotinic acetylcholine receptor genes (CHRNA4 and CHRNB2) with schizophrenia in the Japanese population. (PubMed id 18762859)1, 4, 9 Kishi T....Iwata N. (J Neural Transm 2008)
    5. The structures of the human neuronal nicotinic acetylcholine receptor beta2- and alpha3-subunit genes (CHRNB2 and CHRNA3). (PubMed id 9921897)1, 2, 9 Rempel N.... Steinlein O.K. (Hum. Genet. 1998)
    6. Haplotypes of four novel single nucleotide polymorphisms in the nicotinic acetylcholine receptor beta2-subunit (CHRNB2) gene show no association with smoking initiation or nicotine dependence. (PubMed id 11054772)1, 4, 9 Silverman M.A....Straub R.E. (Am. J. Med. Genet. 2000)
    7. A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy. (PubMed id 19058950)1, 4, 9 Chen Y....Xu Q. (Epilepsy Res. 2009)
    8. Alpha4 and beta2 subunits of neuronal nicotinic acetylcholine receptor genes are not associated with methamphetamine-use disorder in the Japanese population. (PubMed id 18991851)1, 4, 9 Kishi T....Iwata N. (Ann. N. Y. Acad. Sci. 2008)
    9. Association of idiopathic generalized epilepsy with polymorphisms in the neuronal nicotinic acetylcholine receptor subunits. (PubMed id 17385675)1, 4, 9 Lee C.C....Tsai F.J. (J. Clin. Lab. Anal. 2007)
    10. Assessment of Alzheimer's disease case-control associations using family-based methods. (PubMed id 18830724)1, 4, 9 Schjeide B.M....Bertram L. (Neurogenetics 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1141 HGNC: 1962 AceView: CHRNB2 Ensembl:ENSG00000160716 euGenes: HUgn1141
    ECgene: CHRNB2 Kegg: 1141 H-InvDB: CHRNB2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CHRNB2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CHRNB2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CHRNB2 gene:
    Search GeneIP for patents involving CHRNB2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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