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CHRNA6 Gene

protein-coding   GIFtS: 59
GCID: GC08M042625

Cholinergic Receptor, Nicotinic, Alpha 6 (Neuronal)

(Previous names: cholinergic receptor, nicotinic, alpha polypeptide 6)
  See 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, Alpha 6 (Neuronal)1 2     nicotinic1
Cholinergic Receptor, Nicotinic, Alpha Polypeptide 61 2     CHNRA62
Acetylcholine Receptor1     Acetylcholine Receptor, Nicotinic, Alpha 6 (Neuronal)2
Alpha 6 (Neuronal)1     Neuronal Acetylcholine Receptor Subunit Alpha-62

External Ids:    HGNC: 159631   Entrez Gene: 89732   Ensembl: ENSG000001474347   OMIM: 6068885   UniProtKB: Q158253   

Export aliases for CHRNA6 gene to outside databases

Previous GC identifers: GC08M042362 GC08M042677 GC08M042726 GC08M041129


(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 CHRNA6 Gene:
This gene encodes an alpha subunit of neuronal nicotinic acetylcholine receptors. These receptors consist of five
subunits and function as ion channels involved in neurotransmission. The encoded protein is a subunit of neuronal
nicotinic acetylcholine receptors that mediate dopaminergic neurotransmission and are activated by acetylcholine
and exogenous nicotine. Alternatively spliced transcript variants have been observed for this gene. Single
nucleotide polymorphisms in this gene have been associated with both nicotine and alcohol dependence. (provided
by RefSeq, Dec 2010)

GeneCards Summary for CHRNA6 Gene:
CHRNA6 (cholinergic receptor, nicotinic, alpha 6 (neuronal)) is a protein-coding gene. Diseases associated with CHRNA6 include autosomal dominant nocturnal frontal lobe epilepsy, and frontal lobe epilepsy. GO annotations related to this gene include acetylcholine-activated cation-selective channel activity and acetylcholine receptor activity. An important paralog of this gene is CHRNA4.

UniProtKB/Swiss-Prot: ACHA6_HUMAN, Q15825
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 CHRNA6 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:
NC_000008.11  NC_018919.2  NT_167187.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHRNA6 gene promoter:
         AP-1   Bach2   STAT5A   Cdc5   S8   PPAR-gamma1   POU2F1   POU2F1a   STAT3   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHRNA6 promoter sequence
   Search Chromatin IP Primers for CHRNA6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHRNA6


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

Entrez Gene cytogenetic band: 8p11.21   Ensembl cytogenetic band:  8p11.21   HGNC cytogenetic band: 8p22

CHRNA6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHRNA6 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M042625:  view genomic region     (about GC identifiers)

Start:
42,607,763 bp from pter      End:
42,651,535 bp from pter
Size:
43,773 bases      Orientation:
minus 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, 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., 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: ACHA6_HUMAN, Q15825 (See protein sequence)
Recommended Name: Neuronal acetylcholine receptor subunit alpha-6 precursor  
Size: 494 amino acids; 56898 Da
Subunit: Neuronal AChR seems to be composed of two different types of subunits: alpha and non-alpha (beta)
Secondary accessions: B2R8V4 B4DQH1
Alternative splicing: 2 isoforms:  Q15825-1   Q15825-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CHRNA6: NX_Q15825

Explore proteomics data for CHRNA6 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn54, Asn171

  • See CHRNA6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001186208.1  NP_004189.1  

    ENSEMBL proteins: 
     ENSP00000276410   ENSP00000433871   ENSP00000434659  
    Reactome Protein details: Q15825

    CHRNA6 Human Recombinant Protein Products:

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    Novus Biologicals CHRNA6 Lysate
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    CHRNA6 Antibody Products:

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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: alpha6
    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 Q15825

    ProtoNet protein and cluster: Q15825

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


    UniProtKB/Swiss-Prot: ACHA6_HUMAN, Q15825
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1)
    subfamily. Alpha-6/CHRNA6 sub-subfamily


    CHRNA6 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACHA6_HUMAN, Q15825
    Function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all
    subunits and leads to opening of an ion-conducting channel across the plasma membrane

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004889acetylcholine-activated cation-selective channel activity IEA--
    GO:0005230extracellular ligand-gated ion channel activity ----
    GO:0005515protein binding ----
    GO:0015464acetylcholine receptor activity TAS8906617
         
    CHRNA6 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Chrna6):
     nervous system 

    CHRNA6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Chrna6tm1Nchx for CHRNA6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHRNA6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CHRNA6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHRNA6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHRNA6

    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate CHRNA6:
    hsa-miR-7-1* hsa-miR-7-2*
    SwitchGear 3'UTR luciferase reporter plasmidCHRNA6 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CHRNA6

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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
    ACHA6_HUMAN, Q15825: 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 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005892acetylcholine-gated channel complex IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0030054cell junction IEA--

    CHRNA6 for ontologies           About GeneDecksing


    (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 CHRNA6 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
    Acetylcholine Binding And Downstream Events0.00
    Presynaptic nicotinic acetylcholine receptors0.00
    Highly calcium permeable postsynaptic nicotinic acetylcholine receptors0.00
    Highly calcium permeable nicotinic acetylcholine receptors0.00
    Postsynaptic nicotinic acetylcholine receptors0.00
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    4CREB Pathway
    Intracellular Calcium Signaling0.50
    5Nanog in Mammalian ESC Pluripotency
    eNOS Signaling0.48

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CHRNA6
        eNOS Signaling
    Intracellular Calcium Signaling

    1 BioSystems Pathway for CHRNA6
        Nicotine Activity on Dopaminergic Neurons

    2 Reactome Pathways for CHRNA6
        Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
    Highly calcium permeable nicotinic acetylcholine receptors

    1 PharmGKB Pathway for CHRNA6
        Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics

    3 Kegg Pathways  (Kegg details for CHRNA6):
        Neuroactive ligand-receptor interaction
    Cholinergic synapse
    Nicotine addiction


    CHRNA6 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including CHRNA6: 
              Neurotransmitter Receptors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CHRNA6

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

    Selected Interacting proteins for CHRNA6 (ENSP000002764104) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    JAK2ENSP000003710674STRING: ENSP00000371067
    CHRNA2ENSP000002401324STRING: ENSP00000240132
    CHRNA3ENSP000003156024STRING: ENSP00000315602
    CHRNA4ENSP000003592854STRING: ENSP00000359285
    CHRNA5ENSP000002995654STRING: ENSP00000299565
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8906617
    GO:0006811ion transport ----
    GO:0006812cation transport TAS8906617
    GO:0007165signal transduction TAS8906617
    GO:0007268synaptic transmission TAS--

    CHRNA6 for ontologies           About GeneDecksing



    (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 CHRNA6 (ACHA6)

    3 DrugBank Compounds for CHRNA6    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
    VareniclineCP-526,555 (see all 2)249296-44-4targetpartial agonist16766716

    6 IUPHAR Ligands for CHRNA6 (alpha6)    About this table
    LigandTypeActionAffinityPubmed IDs
    mecamylamine
    Channel blockerNone4.96--
    hexamethonium
    Channel blockerNone4.04--
    alpha-conotoxin MII [H9A, L15A]
    AntagonistAntagonist4.04--
    alpha-conotoxin MII
    AntagonistAntagonist4.04--
    [125I]alpha-conotoxin MII
    NoneNone4.04--
    alpha-conotoxin PIA
    AntagonistAntagonist4.04--



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CHRNA6 gene (2 alternative transcripts): 
    NM_001199279.1  NM_004198.3  

    Unigene Cluster for CHRNA6:

    Cholinergic receptor, nicotinic, alpha 6 (neuronal)
    Hs.103128  [show with all ESTs]
    Unigene Representative Sequence: NM_004198
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000276410(uc003xpj.3 uc011lcw.2) ENST00000534622 ENST00000533810
    ENST00000530869 ENST00000529467
    miRNA
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    hsa-miR-7-1* hsa-miR-7-2*
    SwitchGear 3'UTR luciferase reporter plasmidCHRNA6 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK298798.1 AK313521.1 BC014456.1 U62435.1 Y16282.1 

    1 DOTS entry:

    DT.91826338 

    12 AceView cDNA sequences:

    BU739756 BC014456 Y16282 BX280945 NM_004198 AL712887 BM716007 BF794323 
    BG763892 U62435 BG761570 BF933609 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CHRNA6    About this scheme

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


    ECgene alternative splicing isoforms for CHRNA6

    (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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    CHRNA6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTCTGTAAT
    CHRNA6 Expression
    About this image


    CHRNA6 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
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
             Substantia Nigra   
     
     Neural Tube (Nervous System)
             brain/midbrain/lateral wall   
    CHRNA6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHRNA6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.103128
        Pathway & Disease-focused RT2 Profiler PCR Array including CHRNA6: 
              Neurotransmitter Receptors in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNA6

    (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 CHRNA6 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chrna61 , 5 cholinergic receptor, nicotinic, alpha polypeptide more1, 5 81.85(n)1
    85.02(a)1
      8 (16.02 cM)5
    114401  NM_021369.21  NP_067344.21 
     274032145 
    chicken
    (Gallus gallus)
    Aves CHRNA61 cholinergic receptor, nicotinic, alpha 6 75.65(n)
    82.32(a)
      396321  NM_205364.1  NP_990695.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHRNA66
    cholinergic receptor, nicotinic, alpha 6 (neuronal...
    78(a)
    1 ↔ 1
    GL343339.1(748085-770510)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004952871 neuronal acetylcholine receptor subunit alpha-6-like 69.63(n)
    72.21(a)
      100495287  XM_002942898.2  XP_002942944.2 
    zebrafish
    (Danio rerio)
    Actinopterygii chrna61 cholinergic receptor, nicotinic, alpha 6 66.11(n)
    71.55(a)
      555747  NM_001042684.2  NP_001036149.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta nAcRalpha-7E1 , 3 nicotinic acetylcholine-activated
    cation-selective more3
    nicotinic Acetylcholine Receptor alpha 7E1
    55(a)
    (best of 8)3
    58.02(n)1
    54.11(a)1
      317671  NM_080340.31  NP_525079.31 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-633
    unc-381
    ion-channel protein3
    unc-381
    45(a)
    (best of 24)3
    55.65(n)1
    46.3(a)1
      I(5141683-5149120)3
    1721051  NM_059071.51  NP_491472.11 


    ENSEMBL Gene Tree for CHRNA6 (if available)
    TreeFam Gene Tree for CHRNA6 (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 CHRNA6 gene
    CHRNA42  CHRNA52  CHRNA22  CHRNA12  CHRNB22  CHRNG2  CHRNA32  CHRNE2  
    CHRND2  CHRNB12  CHRNB32  CHRNB42  
    Selected SIMAP similar genes for CHRNA6 using alignment to 3 protein entries:     ACHA6_HUMAN (see all proteins) (see all similar genes):
    CHRNA3    CHRNA5    CHRNA2    CHRNB4    CHRNA1    CHRNB2
    CHRNB3    CHRND    CHRNA7-2    CHRNA9    CHRNB1    CHRFAM7A
    CHRNA7    CHRNA4    HTR3A    CHRNE    GABRA6    CHRNA10

    CHRNA6 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), 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 CHRNA6 (see all 622)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1921249381,2
    --42607274(+) ATTCCC/GCAGAT 2 -- ds50010--------
    rs766159681,2
    C,F--42607293(+) GCCTGC/AAGTCT 2 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1843795581,2
    --42607309(+) GCTACG/TACTTT 2 -- ds50010--------
    rs1507358271,2
    --42607358(+) TGCTTA/GTCACC 2 -- ds50010--------
    rs1391084891,2
    C--42607440(+) CTGTTA/GAGAAA 2 -- ds50010--------
    rs1125788541,2
    C--42607462(+) TAGTTTTTA/-  
            
    TTTAT
    2 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs1498774601,2
    C--42607655(+) CACAGC/GGTCTC 2 -- ds50010--------
    rs785617201,2
    C,F--42607660(-) ATAGGG/AAGACC 2 -- ds50011Minor allele frequency- A:0.02WA 118
    rs1894805291,2
    --42607760(+) CCAAAC/TTGTTT 2 -- ds50010--------
    rs78326391,2
    C,F,A,H--42607781(+) TTTTTT/AAAAAC 2 -- ut314Minor allele frequency- A:0.19EU NA CSA 381

    HapMap Linkage Disequilibrium report for CHRNA6 (42607763 - 42651535 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CHRNA6: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CHRNA6
    DNA2.0 Custom Variant and Variant Library Synthesis for CHRNA6

    (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: 606888    OMIM disorders: --

    11 diseases for CHRNA6:    
    About MalaCards
    autosomal dominant nocturnal frontal lobe epilepsy    frontal lobe epilepsy    alcohol dependence    neuronitis
    nicotine addiction    nicotine dependence    bipolar disorder    parkinson's disease
    schizophrenia    lung cancer    malaria

    1 disease from the University of Copenhagen DISEASES database for CHRNA6:
    Nicotine dependence

    CHRNA6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CHRNA6
    Human Genome Epidemiology (HuGE) Navigator: CHRNA6 (18 documents)

    Export disorders for CHRNA6 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 CHRNA6 gene, integrated from 10 sources (see all 55):
    (articles sorted by number of sources associating them with CHRNA6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Comparative structure of human neuronal alpha 2-alpha 7 and beta 2- beta 4 nicotinic acetylcholine receptor subunits and functional expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and beta 4 subunits. (PubMed id 8906617)1, 2, 3 Elliott K.J.... Harpold M.M. (J. Mol. Neurosci. 1996)
    2. Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. (PubMed id 20418888)1, 4 Thorgeirsson T.E....Stefansson K. (Nat. Genet. 2010)
    3. Prenatal exposure to maternal cigarette smoking interacts with a polymorphism in the alpha6 nicotinic acetylcholine receptor gene to influence drug use and striatum volume in adolescence. (PubMed id 20029407)1, 4 Lotfipour S....Paus T. (Mol. Psychiatry 2010)
    4. 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)
    5. 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)
    6. 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)
    7. SNPs in CHRNA6 and CHRNB3 are associated with alcohol consumption in a nationally representative sample. (PubMed id 19500157)1, 4 Hoft N.R....Ehringer M.A. (Genes Brain Behav. 2009)
    8. Genetic association of the CHRNA6 and CHRNB3 genes with tobacco dependence in a nationally representative sample. (PubMed id 18704094)1, 4 Hoft N.R....Ehringer M.A. (Neuropsychopharmacology 2009)
    9. 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)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 8973 HGNC: 15963 AceView: CHRNA6 Ensembl:ENSG00000147434 euGenes: HUgn8973
    ECgene: CHRNA6 Kegg: 8973 H-InvDB: CHRNA6

    (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 CHRNA6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CHRNA6 gene:
    Search GeneIP for patents involving CHRNA6

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



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