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CHRNB1 Gene

protein-coding   GIFtS: 65
GCID: GC17P007348

Cholinergic Receptor, Nicotinic, Beta 1 (Muscle)

(Previous names: cholinergic receptor, nicotinic, beta polypeptide 1 (muscle))
(Previous symbol: CHRNB)
  See CHRNB1-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 1 (Muscle)1 2     SCCMS2 5
CHRNB1 2 3     Acetylcholine Receptor1
ACHRB2 3 5     Beta 1 (Muscle)1
Cholinergic Receptor, Nicotinic, Beta Polypeptide 1 (Muscle)1 2     nicotinic1
CMS1D2 5     Acetylcholine Receptor Subunit Beta2
CMS2A2 5     Acetylcholine Receptor, Nicotinic, Beta 1 (Muscle)2

External Ids:    HGNC: 19611   Entrez Gene: 11402   Ensembl: ENSG000001701757   OMIM: 1007105   UniProtKB: P112303   

Export aliases for CHRNB1 gene to outside databases

Previous GC identifers: GC17M007754 GC17P008078 GC17P007292 GC17P007548 GC17P007289


(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 CHRNB1 Gene:
The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and
one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor
changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the
plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome.
(provided by RefSeq, Jul 2008)

GeneCards Summary for CHRNB1 Gene:
CHRNB1 (cholinergic receptor, nicotinic, beta 1 (muscle)) is a protein-coding gene. Diseases associated with CHRNB1 include slow-channel congenital myasthenic syndrome, and chrnb1-related congenital myasthenic syndrome. GO annotations related to this gene include acetylcholine-activated cation-selective channel activity and channel activity. An important paralog of this gene is CHRNA4.

UniProtKB/Swiss-Prot: ACHB_HUMAN, P11230
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 Wiki entry for CHRNB1 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_000017.10  NC_018928.2  NT_010718.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHRNB1 gene promoter:
         SRF   GATA-3   Pax-5   CUTL1   POU3F2   C/EBPalpha   GATA-1   GATA-2   PPAR-gamma2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CHRNB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHRNB1


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

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

CHRNB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHRNB1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P007348:  view genomic region     (about GC identifiers)

Start:
7,348,380 bp from pter      End:
7,361,026 bp from pter
Size:
12,647 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ACHB_HUMAN, P11230 (See protein sequence)
Recommended Name: Acetylcholine receptor subunit beta precursor  
Size: 501 amino acids; 56698 Da
Subunit: Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon
(in mature muscle) chains
Secondary accessions: Q96FB8

Explore the universe of human proteins at neXtProt for CHRNB1: NX_P11230

Explore proteomics data for CHRNB1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn164
  • Modification sites at PhosphoSitePlus

  • See CHRNB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000738.2  
    ENSEMBL proteins: 
     ENSP00000304290   ENSP00000461402   ENSP00000460648   ENSP00000439209   ENSP00000459092  
     ENSP00000461751  

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    Browse Sino Biological Cell Lysates
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    antibodies-online proteins for CHRNB1 (3 products) 

     
    antibodies-online peptides for CHRNB1

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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: beta1
    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 P11230

    ProtoNet protein and cluster: P11230

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


    UniProtKB/Swiss-Prot: ACHB_HUMAN, P11230
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1)
    subfamily. Beta-1/CHRNB1 sub-subfamily


    Find genes that share domains with CHRNB1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: ACHB_HUMAN, P11230
    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

         Genatlas biochemistry entry for CHRNB1:
    cholinergic receptor,nicotinic,beta 1 polypeptide,muscle

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004889contributes to acetylcholine-activated cation-selective channel activity ISS--
    GO:0005230extracellular ligand-gated ion channel activity ----
    GO:0005515protein binding ----
    GO:0015267channel activity IMP8872460
    GO:0015276ligand-gated ion channel activity ISS--
         
    Find genes that share ontologies with CHRNB1           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Chrnb1):
     nervous system 

    Find genes that share phenotypes with CHRNB1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CHRNB1

    miRNA
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    miRTarBase miRNAs that target CHRNB1:
    hsa-mir-98-5p (MIRT004951)

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    5 qRT-PCR Assays for microRNAs that regulate CHRNB1:
    hsa-miR-145* hsa-miR-7-1* hsa-miR-7-2* hsa-miR-3065-5p hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidCHRNB1 3' UTR sequence
    Inhib. RNA
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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
    ACHB_HUMAN, P11230: 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 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane ----
    GO:0005887integral component of plasma membrane NAS8872460
    GO:0005892acetylcholine-gated channel complex IMP8872460
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with CHRNB1           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 CHRNB1 About    
    See pathways by source

    SuperPathContained pathways About
    1Nanog in Mammalian ESC Pluripotency
    eNOS Signaling0.48
    2Peptide ligand-binding receptors
    Neuroactive ligand-receptor interaction0.36
    3Calcium channels
    Calcium channels
    4AMPK Enzyme Complex Pathway
    AMPK Enzyme Complex Pathway


    Find genes that share SuperPaths with CHRNB1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CHRNB1
        AMPK Enzyme Complex Pathway
    eNOS Signaling


    1 Kegg Pathway  (Kegg details for CHRNB1):
        Neuroactive ligand-receptor interaction

        Pathway & Disease-focused RT2 Profiler PCR Array including CHRNB1: 
              Hypertension in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CHRNB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for CHRNB1 (P112303 ENSP000003042904) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAPSNQ137023, ENSP000002988544I2D: score=1 STRING: ENSP00000298854
    COPS6Q7L5N13I2D: score=3 
    CHRNA2ENSP000002401324STRING: ENSP00000240132
    CHRNA3ENSP000003156024STRING: ENSP00000315602
    CHRNA4ENSP000003592854STRING: ENSP00000359285
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001941postsynaptic membrane organization IMP8651643
    GO:0006810transport ----
    GO:0006811ion transport ----
    GO:0006812cation transport IMP8872460
    GO:0006936muscle contraction IMP8651643

    Find genes that share ontologies with CHRNB1           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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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CHRNB1 (ACHB)

    1 DrugBank Compound for CHRNB1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Galantamine(-)-Galanthamine (see all 3)357-70-0targetallosteric modulator12137632 11129124 12481195 20480924 12177686 10971048



    (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 CHRNB1 gene: 
    NM_000747.2  

    Unigene Cluster for CHRNB1:

    Cholinergic receptor, nicotinic, beta 1 (muscle)
    Hs.330386  [show with all ESTs]
    Unigene Representative Sequence: BC023553
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000306071(uc002ghb.3 uc010vty.2) ENST00000572857 ENST00000574054
    ENST00000570557 ENST00000536404 ENST00000576360 ENST00000573209(uc010vtz.1)
    ENST00000575379
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    hsa-miR-145* hsa-miR-7-1* hsa-miR-7-2* hsa-miR-3065-5p hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidCHRNB1 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat CHRNB1
      QuantiFast Probe-based Assays in human, mouse, rat CHRNB1

    Additional mRNA sequence: 

    AK298938.1 AK308106.1 BC011371.1 BC023553.2 X14830.1 

    7 DOTS entries:

    DT.92418355  DT.441400  DT.97780381  DT.406908  DT.97825028  DT.120899047  DT.95123454 

    Selected AceView cDNA sequences (see all 73):

    BQ548884 BM724147 BQ548594 BG413434 CD014139 BU951875 BC011371 BE350013 
    NM_000747 AW407007 BM680320 AW273235 AW273177 CB994947 AU128287 AA088900 
    AU099979 AW160665 X14830 BQ945360 BM459117 BX110786 BG500518 BU952134 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CHRNB1 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
    SP1:              -     -                                                                 -                           
    SP2:                                                  -     -     -                       -                           
    SP3:                    -                                                                                             
    SP4:                                                  -     -                                                         
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for CHRNB1

    (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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    CHRNB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCGCTCAGG
    CHRNB1 Expression
    About this image


    CHRNB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod Long Bone
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Cartilage (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
    CHRNB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHRNB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.330386
        Pathway & Disease-focused RT2 Profiler PCR Array including CHRNB1: 
              Hypertension in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for CHRNB1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNB1

    (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 CHRNB1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chrnb11 , 5 cholinergic receptor, nicotinic, beta polypeptide 1 more1, 5 86.35(n)1
    90.53(a)1
      11 (42.87 cM)5
    114431  NM_009601.41  NP_033731.31 
     697840365 
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3980482 muscle nicotinic acetylcholine receptor beta subunit 75.87(n)    U04618.1 
    zebrafish
    (Danio rerio)
    Actinopterygii chrnb11 cholinergic receptor, nicotinic, beta 1 (muscle) 61.2(n)
    61.47(a)
      100006941  NM_001253810.1  NP_001240739.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta nAcR&bgr;-64B3 nicotinic acetylcholine-activated
    cation-selective more
    39(a)   64B6   --
    worm
    (Caenorhabditis elegans)
    Secernentea lev-13 acetylcholine receptor 35(a)
    (best of 3)
      IV(13174445-13179316)   --


    ENSEMBL Gene Tree for CHRNB1 (if available)
    TreeFam Gene Tree for CHRNB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for CHRNB1 gene
    CHRNA42  CHRNA52  CHRNA22  CHRNA12  CHRNB22  CHRNA62  CHRNG2  CHRNA32  
    CHRNE2  CHRND2  CHRNB32  CHRNB42  
    Selected SIMAP similar genes for CHRNB1 using alignment to 7 protein entries:     ACHB_HUMAN (see all proteins) (see all similar genes):
    HTR3A    CHRNA6    CHRNA5    CHRNB4    CHRNA3    CHRND
    CHRNA7-2    CHRNA1    CHRNA4    HTR3E    CHRNA2    CHRFAM7A
    CHRNB3    CHRNE    CHRNA7    CHRNB2    CHRNA9    CHRNG

    Find genes that share paralogs with CHRNB1           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 CHRNB1 (see all 411)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0002884
    Myasthenic syndrome, congenital, slow-channel (SCCMS)4--see VAR_0002882 V M mis40--------
    VAR_0002874
    Myasthenic syndrome, congenital, slow-channel (SCCMS)4--see VAR_0002872 L M mis40--------
    rs2013553561,2
    C--7335549(+) GTCCCA/C/TGAGGC 1 -- us2k11EU 1323
    rs1450803861,2
    C--7335596(+) CCCTGA/GACTGG 1 -- us2k10--------
    rs2012259031,2
    --7335630(+) CCAGCC/TACCAC 1 -- us2k10--------
    rs41511331,2
    C,F,H--7335856(+) ACAACC/GCCATG 1 -- us2k119Minor allele frequency- G:0.05NS NA WA CSA 980
    rs1893317611,2
    --7335879(+) ATGGCA/GCTGGG 1 -- us2k10--------
    rs1926849051,2
    --7336082(+) CAGGGC/TCACTT 1 -- us2k10--------
    rs1483224671,2
    C--7336103(+) GCTCTC/GTGCTG 1 -- us2k10--------
    rs38296031,2
    C,F,A,H--7336159(+) CTGTCC/ATTGAC 1 -- us2k135Minor allele frequency- A:0.45NS EA NA WA CSA 3540

    HapMap Linkage Disequilibrium report for CHRNB1 (7348380 - 7361026 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CHRNB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422288CNV Deletion17116639
    dgv3054n71CNV Loss21882294
    nsv457659CNV Loss19166990
    nsv523672CNV Loss19592680

    Human Gene Mutation Database (HGMD): CHRNB1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CHRNB1
    DNA2.0 Custom Variant and Variant Library Synthesis for CHRNB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 100710   
    OMIM disorders: 601462  608931  
    UniProtKB/Swiss-Prot: ACHB_HUMAN, P11230
  • Myasthenic syndrome, congenital, slow-channel (SCCMS) [MIM:601462]: A common congenital myasthenic
    syndrome. Congenital myasthenic syndromes are characterized by muscle weakness affecting the axial and limb
    muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and
    the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms
    fluctuate and worsen with physical effort. Congenital myasthenic syndrome slow-channel type is caused by kinetic
    abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)
    [MIM:608931]: A post-synaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited
    disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic
    proteins. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 10 diseases for CHRNB1:    
    About MalaCards
    slow-channel congenital myasthenic syndrome    chrnb1-related congenital myasthenic syndrome    congenital myasthenic syndrome associated with acetylcholine receptor deficiency    congenital myasthenic syndrome
    ectropion    autosomal dominant nocturnal frontal lobe epilepsy    frontal lobe epilepsy    nicotine dependence
    pterygium    myasthenic syndrome, congenital, with pre- and postsynaptic defects

    3 diseases from the University of Copenhagen DISEASES database for CHRNB1:
    Nicotine dependence     Myopathy     Neuropathy

    Find genes that share disorders with CHRNB1           About GenesLikeMe

    GeneTests: CHRNB1
    GeneReviews: CHRNB1
    Genetic Association Database (GAD): CHRNB1
    Human Genome Epidemiology (HuGE) Navigator: CHRNB1 (8 documents)

    Export disorders for CHRNB1 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 CHRNB1 gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with CHRNB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence. (PubMed id 16874522)1, 4, 9 Lou X.Y....Li M.D. (Hum. Genet. 2006)
    2. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    3. Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans. (PubMed id 20584212)1, 4 Saccone N.L....Bierut L.J. (Genes Brain Behav. 2010)
    4. Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the FagerstrAPm test for nicotine dependence. (PubMed id 20736995)1, 4 Wessel J....Bergen A.W. (Neuropsychopharmacology 2010)
    5. Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes. (PubMed id 19259974)1, 4 Saccone N.L....Bierut L.J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    6. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    7. Examination of the nicotine dependence (NICSNP) consortium findings in the Iowa adoption studies population. (PubMed id 19307444)1, 4 Philibert R.A....Madden P. (amp 2009)
    8. No evidence for association between 19 cholinergic genes and bipolar disorder. (PubMed id 17373692)1, 4 Shi J....Liu C. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly. (PubMed id 10562302)1, 2 Quiram P.A.... Engel A.G. (J. Clin. Invest. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1140 HGNC: 1961 AceView: CHRNB1 Ensembl:ENSG00000170175 euGenes: HUgn1140
    ECgene: CHRNB1 Kegg: 1140 H-InvDB: CHRNB1

    (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 CHRNB1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CHRNB1[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 CHRNB1 gene:
    Search GeneIP for patents involving CHRNB1

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



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