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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CHRNB4 Gene

protein-coding   GIFtS: 64
GCID: GC15M078916

Cholinergic Receptor, Nicotinic, Beta 4 (Neuronal)

(Previous names: cholinergic receptor, nicotinic, beta polypeptide 4)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cholinergic Receptor, Nicotinic, Beta 4 (Neuronal)1 2     nicotinic1
Cholinergic Receptor, Nicotinic, Beta Polypeptide 41 2     Acetylcholine Receptor, Nicotinic, Beta 4 (Neuronal)2
Acetylcholine Receptor1     Neuronal Acetylcholine Receptor Subunit Beta-42
Beta 4 (Neuronal)1     Neuronal Nicotinic Receptor Beta 4 Subunit2

External Ids:    HGNC: 19641   Entrez Gene: 11432   Ensembl: ENSG000001179717   OMIM: 1185095   UniProtKB: P309263   

Export aliases for CHRNB4 gene to outside databases

Previous GC identifers: GC15P074970 GC15M072006 GC15M076492 GC15M076632 GC15M076703 GC15M055674


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for CHRNB4 Gene: 
CHRNB4 (cholinergic receptor, nicotinic, beta 4 (neuronal)) is a protein-coding gene. Diseases associated with CHRNB4 include nicotine dependence, and nicotine addiction, and among its related super-pathways are Nicotine Pathway (Chromaffin Cell), Pharmacodynamics and Presynaptic nicotinic acetylcholine receptors. 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 CHRNA5.

UniProtKB/Swiss-Prot: ACHB4_HUMAN, P30926
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 CHRNB4 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.2  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHRNB4 gene promoter:
         AhR   Max1   NF-E2 p45   Tal-1beta   Arnt   HNF-1A   HNF-1   NF-E2   ITF-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHRNB4 promoter sequence
   Search SABiosciences Chromatin IP Primers for CHRNB4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHRNB4


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

Entrez Gene cytogenetic band: 15q24   Ensembl cytogenetic band:  15q25.1   HGNC cytogenetic band: 15q24

CHRNB4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHRNB4 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M078916:  view genomic region     (about GC identifiers)

Start:
78,916,461 bp from pter      End:
79,020,096 bp from pter
Size:
103,636 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ACHB4_HUMAN, P30926 (See protein sequence)
Recommended Name: Neuronal acetylcholine receptor subunit beta-4 precursor  
Size: 498 amino acids; 56380 Da
Subunit: Neuronal AChR is composed of two different types of subunits: alpha and beta. Beta-4 subunit can be
combined to alpha-2, alpha-3 or alpha-4 to give rise to functional receptors. Interacts with RIC3; which is
required for proper folding and assembly
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
membrane; Multi-pass membrane protein
1 PDB 3D structure from and Proteopedia for CHRNB4:
2ASG (3D)    
Secondary accessions: A4FTX5 E9PHE8 Q16607 Q4VBA5 Q8WXC8 Q9BQR4
Alternative splicing: 2 isoforms:  P30926-1   P30926-2   

Explore the universe of human proteins at neXtProt for CHRNB4: NX_P30926

Explore proteomics data for CHRNB4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P30926

  • CHRNB4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CHRNB4 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000741.1  NP_001243496.1  

    ENSEMBL proteins: 
     ENSP00000261751   ENSP00000416386   ENSP00000457404  
    Reactome Protein details: P30926
    Human Recombinant Protein Products for CHRNB4: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IC11742001
    GO:0005892acetylcholine-gated channel complex TAS11742001
    GO:0016020membrane ----
    GO:0016021integral to membrane NAS8906617

    CHRNB4 for ontologies           About GeneDecksing



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

    IUPHAR Guide to PHARMACOLOGY protein family classification: β4 
    Nicotinic acetylcholine receptors

    5/6 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 P30926

    ProtoNet protein and cluster: P30926

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


    UniProtKB/Swiss-Prot: ACHB4_HUMAN, P30926
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1)
    subfamily. Beta-4/CHRNB4 sub-subfamily


    CHRNB4 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACHB4_HUMAN, P30926
    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 CHRNB4:
    cholinergic receptor,nicotinic,beta 4 polypeptide,neuronal

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004889acetylcholine-activated cation-selective channel activity TAS11742001
    GO:0005230extracellular ligand-gated ion channel activity ----
    GO:0015276ligand-gated ion channel activity TAS--
    GO:0015464acetylcholine receptor activity IDA8906617
         
    CHRNB4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CHRNB4:
     Synthetic lethal with Ras 

         13 MGI mutant phenotypes (inferred from 1 allele(MGI details for Chrnb4):
     behavior/neurological  craniofacial  digestive/alimentary  growth/size  hearing/vestibular/ear 
     homeostasis/metabolism  immune system  integument  mortality/aging  muscle 
     nervous system  renal/urinary system  vision/eye 

    CHRNB4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Chrnb4tm1Mdb for CHRNB4

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CHRNB4 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CHRNB4 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Nicotine Activity on Chromaffin Cells
    Nicotine Pathway (Chromaffin Cell), Pharmacodynamics1.00
    Nicotine Activity on Chromaffin Cells1.00
    2Presynaptic nicotinic acetylcholine receptors
    Presynaptic nicotinic acetylcholine receptors0.86
    Highly calcium permeable postsynaptic nicotinic acetylcholine receptors0.82
    Acetylcholine Binding And Downstream Events0.86
    Highly calcium permeable nicotinic acetylcholine receptors0.82
    Activation of Nicotinic Acetylcholine Receptors0.86
    Highly sodium permeable acetylcholine nicotinic receptors0.58
    Postsynaptic nicotinic acetylcholine receptors0.86
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    4Nanog in Mammalian ESC Pluripotency
    eNOS Signaling0.48
    5Circadian entrainment
    Cholinergic synapse0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CHRNB4
        Calcium channels

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for CHRNB4
        eNOS Signaling

    2 BioSystems Pathways for CHRNB4
        SIDS Susceptibility Pathways
    Nicotine Activity on Chromaffin Cells

    5/10        Reactome Pathways for CHRNB4 (see all 10)
        Activation of Nicotinic Acetylcholine Receptors
    Transmission across Chemical Synapses
    Acetylcholine Binding And Downstream Events
    Highly calcium permeable nicotinic acetylcholine receptors
    Highly calcium permeable postsynaptic nicotinic acetylcholine receptors

    1 PharmGKB Pathway for CHRNB4
        Nicotine Pathway (Chromaffin Cell), Pharmacodynamics

    2         Kegg Pathways  (Kegg details for CHRNB4):
        Neuroactive ligand-receptor interaction
    Cholinergic synapse


    CHRNB4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CHRNB4

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

    5/17 Interacting proteins for CHRNB4 (P309263 ENSP000002617514) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHRNA2Q158223, ENSP000002401324I2D: score=2 STRING: ENSP00000240132
    CHRNA3P322973, ENSP000003156024I2D: score=1 STRING: ENSP00000315602
    CHRNA4P436813, ENSP000003592854I2D: score=1 STRING: ENSP00000359285
    CHRNA5P305323, ENSP000002995654I2D: score=1 STRING: ENSP00000299565
    UBQLN1Q9UMX03, ENSP000003655764I2D: score=1 STRING: ENSP00000365576
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001508regulation of action potential IEA--
    GO:0006810transport ----
    GO:0006811ion transport TAS8906617
    GO:0006939smooth muscle contraction IEA--
    GO:0006940regulation of smooth muscle contraction IEA--

    CHRNB4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CHRNB4 (ACHB4)

    4 DrugBank Compounds for CHRNB4    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 20400469 11006350
    Levomethadyl Acetate1-alpha-acetylmethadol (see all 9)1477-40-3targetother/unknown11561100
    PentoliniumPentolinium tartrate (see all 3)52-62-0targetantagonist7761270

    Search CenterWatch for drugs/clinical trials and news about CHRNB4 / ACHB4

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CHRNB4 gene (2 alternative transcripts): 
    NM_000750.3  NM_001256567.1  

    Unigene Cluster for CHRNB4:

    Cholinergic receptor, nicotinic, beta 4 (neuronal)
    Hs.624178  [show with all ESTs]
    Unigene Representative Sequence: U48861
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261751(uc002bed.1 uc002bee.1) ENST00000412074 ENST00000559849(uc010blh.1)
    ENST00000560511 ENST00000560868 ENST00000558216

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    Additional mRNA sequence: 

    AK310443.1 BC096080.1 BC096081.1 BC096082.1 BC096083.1 U48861.1 U62439.1 X68275.1 
    Y08416.1 

    3 DOTS entries:

    DT.108533  DT.100810895  DT.121050497 

    23 AceView cDNA sequences:

    BX425453 Y08416 U62439 BX374818 AA909339 CR617765 BX390125 BX283993 
    BX348201 U48861 BM557937 NM_000750 BX353375 X68275 BX098202 BQ718501 
    AI625439 BF311784 AA101302 AA905514 CD691021 BG460158 AI024204 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CHRNB4    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7
    SP1:              -                 -                     
    SP2:              -                 -     -     -         
    SP3:              -                                       
    SP4:                                                      


    ECgene alternative splicing isoforms for CHRNB4

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CHRNB4 expression in normal human tissues (normalized intensities)      CHRNB4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTCCAATCC
    CHRNB4 Expression
    About this image


    CHRNB4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 20 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Globus Pallidus
             Septum   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Eye (Sensory Organs)
             Retina

    See CHRNB4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHRNB4

    SOURCE GeneReport for Unigene cluster: Hs.624178
        SABiosciences Custom PCR Arrays for CHRNB4
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNB4

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CHRNB4 gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chrnb41 , 5 cholinergic receptor, nicotinic, beta polypeptide 41, 5 84.46(n)1
    84.05(a)1
      9 (29.84 cM)5
    1080151  NM_148944.41  NP_683746.11 
     550281565 
    chicken
    (Gallus gallus)
    Aves CHRNB41 cholinergic receptor, nicotinic, beta 4 (neuronal) 68.67(n)
    75.98(a)
      395613  NM_204819.1  NP_990150.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5685661 neuronal acetylcholine receptor subunit beta-4-like 68.72(n)
    67.52(a)
      568566  XM_691901.2  XP_696993.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta nAcRalpha-96Aa3
    nAcRbeta-96A1
    nicotinic acetylcholine-activated
    cation-selective more3
    nicotinic Acetylcholine Receptor beta 96A1
    53(a)
    (best of 7)3
    53.76(n)1
    48.89(a)1
      429201  NM_079759.31  NP_524483.11 


    ENSEMBL Gene Tree for CHRNB4 (if available)
    TreeFam Gene Tree for CHRNB4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CHRNB4 gene
    CHRNA52  CHRNA22  CHRNA12  CHRNA62  CHRNA72  CHRNE2  CHRNA42  CHRNA102  
    CHRNA92  CHRNB22  CHRNG2  CHRNA32  CHRFAM7A2  CHRNB32  CHRNB12  CHRND2  
    18 SIMAP similar genes for CHRNB4 using alignment to 3 protein entries:     ACHB4_HUMAN (see all proteins):
    CHRNB2    CHRNA6    CHRNA5    CHRNA7-2    CHRNA3    CHRND
    CHRNA2    CHRNB3    CHRNA1    CHRNB1    CHRNA7    CHRNA10
    CHRNG    CHRFAM7A    CHRNE    CHRNA9    CHRNA4    HTR3A

    CHRNB4 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/514 SNPs in CHRNB4 are shown (see all 514)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs116359551,2
    C,F,A,H--78916157(+) taaaaG/Atcaat 2 -- ds50012Minor allele frequency- A:0.06NA 122
    rs1837461601,2
    --78916162(+) GTCAAC/TTTTAT 2 -- ds50010--------
    rs48870701,2
    C,F,H--78916187(+) taaaaT/Cagaat 2 -- ds50019Minor allele frequency- C:0.36WA NA CSA EA 369
    rs1896363961,2
    --78916273(+) ATGTGC/TGAGGA 2 -- ds50010--------
    rs286802381,2
    C,F,H--78916274(+) TGTGCG/AAGGAG 2 -- ds50018Minor allele frequency- A:0.08NS NA WA 778
    rs1817637541,2
    --78916342(+) AAAGTA/GACCAG 2 -- ds50010--------
    rs1845596571,2
    --78916352(+) GCACCA/GCAGTC 2 -- ds50010--------
    rs798453091,2
    C,F--78916472(-) GCTCAA/GTAAAT 2 -- ds50012Minor allele frequency- G:0.10CSA WA 120
    rs1898435101,2
    --78916524(+) TACCAC/GGAATG 2 -- ds50010--------
    rs715328721,2
    C--78916567(+) CACTC-/ATAGTG 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for CHRNB4 (78916461 - 79020096 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for CHRNB4:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2749912CNV Deletion23290073
    esv1211887CNV Deletion17803354
    esv2059419CNV Deletion18987734
    esv2749913CNV Deletion23290073
    nsv1628CNV Insertion18451855
    dgv8e24CNV Loss17666407
    esv2750601CNV Gain17666407
    nsv457208CNV Gain19166990


    Human Gene Mutation Database (HGMD): CHRNB4
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CHRNB4
    DNA2.0 Custom Variant and Variant Library Synthesis for CHRNB4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 118509    OMIM disorders: --

    15 diseases for CHRNB4:    About MalaCards
    nicotine dependence    nicotine addiction    substance dependence    cocaine dependence
    neuronitis    alcohol dependence    lung cancer    lateral sclerosis
    bipolar disorder    periodontitis    lung adenocarcinoma    neuroblastoma
    alcoholism    parkinson's disease    adenocarcinoma

    4 diseases from the University of Copenhagen DISEASES database for CHRNB4:
    Nicotine dependence     Cocaine dependence     Lung cancer     Alcohol dependence

    CHRNB4 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): CHRNB4
    Human Genome Epidemiology (HuGE) Navigator: CHRNB4 (38 documents)

    Export disorders for CHRNB4 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)
    About This Section

    PubMed articles for CHRNB4 gene, integrated from 9 sources (see all 112):
    (articles sorted by number of sources associating them with CHRNB4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Transcription factors NF-Y and Sp1 are important determinants of the promoter activity of the bovine and human neuronal nicotinic receptor beta 4 subunit genes. (PubMed id 11742001)1, 2, 9 Valor L.M.... Criado M. (2002)
    2. Rare missense variants of neuronal nicotinic acetylch oline receptor altering receptor function are associated with sporadic amyotrop hic lateral sclerosis. (PubMed id 19628475)1, 4, 9 Sabatelli M....Zollino M. (2009)
    3. GWAS for discovery and replication of genetic loci as sociated with sudden cardiac arrest in patients with coronary artery disease. (PubMed id 21658281)1, 4 Aouizerat B.E....Tseng Z.H. (2011)
    4. Risk gene variants for nicotine dependence in the CHR NA5-CHRNA3-CHRNB4 cluster are associated with cognitive performance. (PubMed id 20886544)1, 4 Winterer G....Rujescu D. (2010)
    5. Nicotinic acetylcholine receptor region on chromosome 15q25 and lung cancer risk among African Americans: a case-control study. (PubMed id 20554942)1, 4 Amos C.I....Spitz M.R. (2010)
    6. Association and interaction analysis of variants in C HRNA5/CHRNA3/CHRNB4 gene cluster with nicotine dependence in African and Europe an Americans. (PubMed id 19859904)1, 4 Li M.D....Ma J.Z. (2010)
    7. Variation in nicotinic acetylcholine receptor genes i s associated with multiple substance dependence phenotypes. (PubMed id 20485328)1, 4 Sherva R....Gelernter J. (2010)
    8. Resequencing of nicotinic acetylcholine receptor gene s and association of common and rare variants with the FagerstrAPm test for nico tine dependence. (PubMed id 20736995)1, 4 Wessel J....Bergen A.W. (2010)
    9. Human Variation in Alcohol Response Is Influenced by Variation in Neuronal Signaling Genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (2010)
    10. Fine mapping of chromosome 15q25.1 lung cancer suscep tibility in African-Americans. (PubMed id 20587604)1, 4 Hansen H.M....Wiencke J.K. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1143 HGNC: 1964 AceView: CHRNB4 Ensembl:ENSG00000117971 euGenes: HUgn1143
    ECgene: CHRNB4 Kegg: 1143 H-InvDB: CHRNB4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CHRNB4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CHRNB4 gene:
    Search GeneIP for patents involving CHRNB4

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



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