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CHRNA3 Gene

protein-coding   GIFtS: 65
GCID: GC15M078885

Cholinergic Receptor, Nicotinic, Alpha 3 (Neuronal)

(Previous names: cholinergic receptor, nicotinic, alpha polypeptide 3)
  See CHRNA3-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 3 (Neuronal)1 2     Acetylcholine Receptor1
Cholinergic Receptor, Nicotinic, Alpha Polypeptide 31 2     Alpha 3 (Neuronal)1
NACHRA32 3     nicotinic1
LNCR22 5     Neuronal Acetylcholine Receptor Subunit Alpha-32
PAOD22 5     Neuronal Nicotinic Acetylcholine Receptor, Alpha3 Subunit2

External Ids:    HGNC: 19571   Entrez Gene: 11362   Ensembl: ENSG000000806447   OMIM: 1185035   UniProtKB: P322973   

Export aliases for CHRNA3 gene to outside databases

Previous GC identifers: GC15P074984 GC15M071975 GC15M076461 GC15M076601 GC15M076672 GC15M055642


(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 CHRNA3 Gene:
This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of
proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type
subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion
channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an
increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced
transcript variants have been described. (provided by RefSeq, Nov 2009)

GeneCards Summary for CHRNA3 Gene:
CHRNA3 (cholinergic receptor, nicotinic, alpha 3 (neuronal)) is a protein-coding gene. Diseases associated with CHRNA3 include lung cancer susceptibility 2, and lung cancer susceptibility. 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: ACHA3_HUMAN, P32297
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 CHRNA3 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_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHRNA3 gene promoter:
         Max1   RP58   AML1a   LCR-F1   N-Myc   NF-YB   CBF-B   CBF-A   c-Myc   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHRNA3 promoter sequence
   Search Chromatin IP Primers for CHRNA3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHRNA3


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

CHRNA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHRNA3 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M078885:  view genomic region     (about GC identifiers)

Start:
78,885,394 bp from pter      End:
78,913,637 bp from pter
Size:
28,244 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, 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: ACHA3_HUMAN, P32297 (See protein sequence)
Recommended Name: Neuronal acetylcholine receptor subunit alpha-3 precursor  
Size: 505 amino acids; 57480 Da
Subunit: Neuronal AChR is composed of two different types of subunits: alpha and beta. Alpha-3 subunit can be
combined to beta-2 or beta-4 to give rise to functional receptors. Interacts with RIC3; which is required for
proper folding and assembly
Secondary accessions: Q15823 Q4KMN8 Q86U77 Q96RH3 Q99553 Q9BQ93 Q9BRR4
Alternative splicing: 3 isoforms:  P32297-2   P32297-1   P32297-3   

Explore the universe of human proteins at neXtProt for CHRNA3: NX_P32297

Explore proteomics data for CHRNA3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn54, Asn171
  • Modification sites at PhosphoSitePlus

  • See CHRNA3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000734.2  NP_001160166.1  

    ENSEMBL proteins: 
     ENSP00000452896   ENSP00000267951   ENSP00000315602   ENSP00000453993  
    Reactome Protein details: P32297

    CHRNA3 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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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: alpha3
    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 P32297

    ProtoNet protein and cluster: P32297

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


    UniProtKB/Swiss-Prot: ACHA3_HUMAN, P32297
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1)
    subfamily. Alpha-3/CHRNA3 sub-subfamily


    Find genes that share domains with CHRNA3           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: ACHA3_HUMAN, P32297
    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 CHRNA3:
    cholinergic receptor,nicotinic,alpha 3 polypeptide,neuronal

         Gene Ontology (GO): Selected molecular function terms (see all 6):    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:0015276ligand-gated ion channel activity TAS--
    GO:0015464acetylcholine receptor activity IDA8906617
         
    Find genes that share ontologies with CHRNA3           About GenesLikeMe


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Chrna3):
     behavior/neurological  digestive/alimentary  growth/size/body  homeostasis/metabolism  immune system 
     mortality/aging  muscle  nervous system  no phenotypic analysis  renal/urinary system 
     vision/eye 

    Find genes that share phenotypes with CHRNA3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Chrna3tm1Bay for CHRNA3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHRNA3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHRNA3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHRNA3

    miRNA
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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
    ACHA3_HUMAN, P32297: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton4
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005892acetylcholine-gated channel complex IDA8906617
    GO:0014069postsynaptic density ISS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane NAS8906617

    Find genes that share ontologies with CHRNA3           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 CHRNA3 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
    2Nicotine Activity on Chromaffin Cells
    Nicotine Activity on Chromaffin Cells
    Nicotine Pathway (Chromaffin Cell), Pharmacodynamics0.00
    3Activation 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
    4Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    5CREB Pathway
    Intracellular Calcium Signaling0.50


    Find genes that share SuperPaths with CHRNA3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CHRNA3
        eNOS Signaling
    Intracellular Calcium Signaling

    2 BioSystems Pathways for CHRNA3
        Nicotine Activity on Dopaminergic Neurons
    Nicotine Activity on Chromaffin Cells


    3 Reactome Pathways for CHRNA3
        Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
    Highly calcium permeable nicotinic acetylcholine receptors
    Highly sodium permeable acetylcholine nicotinic receptors

    2 PharmGKB Pathways for CHRNA3
        Nicotine Pathway (Chromaffin Cell), Pharmacodynamics
    Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics

    2 Kegg Pathways  (Kegg details for CHRNA3):
        Neuroactive ligand-receptor interaction
    Cholinergic synapse

        Pathway & Disease-focused RT2 Profiler PCR Array including CHRNA3: 
              Neurotransmitter Receptors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CHRNA3

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

    Selected Interacting proteins for CHRNA3 (P322973 ENSP000003156024) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBQLN1Q9UMX03, ENSP000003655764I2D: score=1 STRING: ENSP00000365576
    CHRNB4P309263, ENSP000002617514I2D: score=1 STRING: ENSP00000261751
    CHRNA2ENSP000002401324STRING: ENSP00000240132
    CHRNA4ENSP000003592854STRING: ENSP00000359285
    CHRNA7ENSP000003037274STRING: ENSP00000303727
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    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006811ion transport NAS8906617
    GO:0006812cation transport TAS--
    GO:0006937regulation of muscle contraction ----
    GO:0006940regulation of smooth muscle contraction ISS--

    Find genes that share ontologies with CHRNA3           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 CHRNA3 (ACHA3)

    7 DrugBank Compounds for CHRNA3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Levamisoledl-Tetramisol (see all 7)14769-73-4targetagonist19668355 15280391 17139284 17016423 17314321 17629760 10592235
    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
    BupropionAmfebutamone (see all 2)34841-39-9targetantagonist10991997 9862757
    Levomethadyl Acetate1-alpha-acetylmethadol (see all 9)1477-40-3targetantagonist11561100
    PentoliniumPentolinium tartrate (see all 3)52-62-0targetantagonist7761270
    VareniclineCP-526,555 (see all 2)249296-44-4targetpartial agonist16766716

    Selected IUPHAR Ligands for CHRNA3 (alpha3) (see all 12)    About this table
    LigandTypeActionAffinityPubmed IDs
    [125I]epibatidine
    NoneNone9.64--
    [3H]epibatidine
    NoneNone9.64--
    mecamylamine
    Channel blockerNone6.41--
    alpha-conotoxin TxIA
    AntagonistAntagonist6.41--
    A-867744
    Channel blockerNone6.4119389923
    alpha-conotoxin-GIC
    AntagonistAntagonist6.41--
    alpha-conotoxin AuIB
    AntagonistAntagonist6.41--
    [3H]cytisine
    NoneNone6.41--
    alpha-conotoxin MII
    AntagonistAntagonist6.41--
    NS1738
    Channel blockerNone6.4117625074

    2 Novoseek inferred chemical compound relationships for CHRNA3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nicotine 55.2 2 19698703 (1), 12594236 (1)
    acetylcholine 44.2 2 12405606 (1), 19628475 (1)

    1 PharmGKB related drug/compound annotation for CHRNA3 gene    About this table
    Drug/compound PharmGKB Annotation
    Drugs used in nicotine dependenceCA  



    Find genes that share compounds with CHRNA3           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 CHRNA3 gene (2 alternative transcripts): 
    NM_000743.4  NM_001166694.1  

    Unigene Cluster for CHRNA3:

    Cholinergic receptor, nicotinic, alpha 3 (neuronal)
    Hs.89605  [show with all ESTs]
    Unigene Representative Sequence: NM_000743
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000559002(uc010blg.2) ENST00000559658 ENST00000348639(uc002beb.3 uc002bea.3)
    ENST00000326828(uc002bec.3) ENST00000558903 ENST00000561128 ENST00000559080
    ENST00000559941
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      QuantiFast Probe-based Assays in human, mouse, rat CHRNA3

    Additional mRNA sequence: 

    AF385584.1 AJ584707.1 AJ584708.1 AJ584709.1 AK298195.1 AK303376.1 BC000513.2 BC001642.2 
    BC002996.1 BC006114.1 BC098443.1 BT006646.1 BT006897.1 M37981.1 NR_046313.1 U62432.1 
    X53559.1 Y08418.1 

    5 DOTS entries:

    DT.207840  DT.100748121  DT.100748120  DT.100020946  DT.40287580 

    Selected AceView cDNA sequences (see all 82):

    BM666615 BU730104 BM698388 X53559 BM703674 BE382752 AW183452 BC006114 
    BP341887 AJ584708 BI195946 AJ584707 BU736141 BQ889957 BM701767 BX283595 
    BX437801 BG150341 BF206269 BV194906 CK003536 BT006646 AI799098 BE799894 

    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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    CHRNA3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACTACACTT
    CHRNA3 Expression
    About this image


    CHRNA3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             Double Negative 3 Thymocytes Thymus
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Double Negative 3 Thymocytes Thymus
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     NULL (Uncategorized)
             Neural rosettes
    CHRNA3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHRNA3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.89605
        Pathway & Disease-focused RT2 Profiler PCR Array including CHRNA3: 
              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 CHRNA3

    (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 CHRNA3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chrna31 , 5 cholinergic receptor, nicotinic, alpha polypeptide more1, 5 88.91(n)1
    93.93(a)1
      9 (29.84 cM)5
    1108341  NM_145129.21  NP_660111.21 
     550113435 
    chicken
    (Gallus gallus)
    Aves CHRNA31 cholinergic receptor, nicotinic, alpha 3 77.22(n)
    85.23(a)
      386578  NM_204416.1  NP_989747.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004980491 neuronal acetylcholine receptor subunit alpha-3-like 69.92(n)
    75.49(a)
      100498049  XM_002934577.2  XP_002934623.2 
    zebrafish
    (Danio rerio)
    Actinopterygii chrna31 cholinergic receptor, nicotinic, alpha 3 70.75(n)
    76.16(a)
      568467  XM_001921279.2  XP_001921314.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta nAcRalpha-96Aa3
    nAcRalpha-80B1
    nicotinic acetylcholine-activated
    cation-selective more3
    nicotinic Acetylcholine Receptor alpha 80B1
    55(a)
    (best of 7)3
    52.86(n)1
    49.14(a)1
      405211  NM_001104199.41  NP_001097669.21 


    ENSEMBL Gene Tree for CHRNA3 (if available)
    TreeFam Gene Tree for CHRNA3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CHRNA3 gene
    CHRNA42  CHRNA52  CHRNA22  CHRNA12  CHRNB22  CHRNA62  CHRNG2  CHRNE2  
    CHRND2  CHRNB32  CHRNB12  CHRNB42  
    18 SIMAP similar genes for CHRNA3 using alignment to 4 protein entries:     ACHA3_HUMAN (see all proteins):
    CHRNA6    CHRNA5    CHRNA2    CHRNA1    CHRNA7-2    CHRNB2
    CHRNB4    CHRNB3    CHRNA4    CHRNB1    CHRNA7    CHRNA9
    CHRND    CHRNE    CHRFAM7A    CHRNA10    CHRNG    HTR3A

    Find genes that share paralogs with CHRNA3           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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    ACHA3_HUMAN, P32297: Genetic variations in CHRNA3 have been associated with susceptibility to smoking-related behavioral
    traits and lung cancer, contributing to the smoking quantitative trait locus 3 (SQTL3) [MIM:612052]


    Selected SNPs for CHRNA3 (see all 865)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs129093401,2
    C--55646701(+) tctacA/Caaaaa 3 -- int11Minor allele frequency- C:0.00NA 2
    rs285649571,2
    F--55663984(+) ACAAAC/AAAAAA 3 -- int12Minor allele frequency- A:0.33NA 6
    rs43666831,2
    C,F,A,H--55670081(-) AGAGTA/GGGGAG 3 -- int16Minor allele frequency- G:0.47NA WA EA 364
    rs43520171,2
    C,A,H--55670082(-) GAGAGG/TGGGGA 3 -- int15Minor allele frequency- T:0.31NA WA EA 362
    rs1913624481,2
    --58928902(+) GAGTGG/TTGGCA 3 -- int10--------
    rs1827370741,2
    --58928931(+) CTACTC/TGGGAG 3 -- int10--------
    rs1487442601,2
    --58928963(+) GAACCC/TGGGAG 3 -- int10--------
    rs747335251,2
    C--58928971(+) GAGGCA/GGAGGT 3 -- int10--------
    rs1463692691,2
    --58929025(+) CAGAGC/TGAGAC 3 -- int10--------
    rs352116131,2
    C--58929049(+) CAACA-/AAAT  
            
    AAATT
    3 -- int10--------

    HapMap Linkage Disequilibrium report for CHRNA3 (78885394 - 78913637 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CHRNA3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv513434CNV Insertion21212237
    nsv1628CNV Insertion18451855
    esv1448423CNV Insertion17803354
    nsv518840CNV Loss19592680
    nsv457208CNV Gain19166990

    Human Gene Mutation Database (HGMD): CHRNA3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CHRNA3
    DNA2.0 Custom Variant and Variant Library Synthesis for CHRNA3

    (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: 118503   
    OMIM disorders: 612052  
    7 diseases for CHRNA3:    
    About MalaCards
    lung cancer susceptibility 2    lung cancer susceptibility    nicotine dependence    nicotine addiction
    autosomal dominant nocturnal frontal lobe epilepsy    frontal lobe epilepsy    lung cancer

    4 diseases from the University of Copenhagen DISEASES database for CHRNA3:
    Nicotine dependence     Lung cancer     Chronic obstructive pulmonary disease     Cocaine dependence

    Find genes that share disorders with CHRNA3           About GenesLikeMe

    1 Novoseek inferred disease relationship for CHRNA3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    megacystis-microcolon-intestinal hypoperistalsis syndrome 83.4 1 11487544 (1)

    Genetic Association Database (GAD): CHRNA3
    Human Genome Epidemiology (HuGE) Navigator: CHRNA3 (73 documents)

    Export disorders for CHRNA3 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

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    PubMed articles for CHRNA3 gene, integrated from 10 sources (see all 206):
    (articles sorted by number of sources associating them with CHRNA3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25. (PubMed id 18385738)1, 2, 4 Hung R.J....Brennan P. (Nature 2008)
    2. Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1. (PubMed id 18385676)1, 2, 4 Amos C.I.... Houlston R.S. (Nat. Genet. 2008)
    3. A variant associated with nicotine dependence, lung cancer and peripheral arterial disease. (PubMed id 18385739)1, 2, 4 Thorgeirsson T.E.... Stefansson K. (Nature 2008)
    4. Sensorimotor gating is associated with CHRNA3 polymorphisms in schizophrenia and healthy volunteers. (PubMed id 20393456)1, 4, 9 Petrovsky N....Kumari V. (Neuropsychopharmacology 2010)
    5. Association and interaction analysis of variants in CHRNA5/CHRNA3/CHRNB4 gene cluster with nicotine dependence in African and European Americans. (PubMed id 19859904)1, 4, 9 Li M.D....Ma J.Z. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    6. 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)
    7. Association of novel and established polymorphisms in neuronal nicotinic acetylcholine receptors with sporadic Alzheimer's disease. (PubMed id 12214130)1, 4, 9 Kawamata J. and Shimohama S. (J. Alzheimers Dis. 2002)
    8. Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. (PubMed id 19628475)1, 4, 9 Sabatelli M....Zollino M. (Hum. Mol. Genet. 2009)
    9. Genetic variations on chromosomes 5p15 and 15q25 and bladder cancer risk: findings from the Los Angeles-Shanghai bladder case-control study. (PubMed id 21081471)1, 4 Gago-Dominguez M....Van Den Berg D.J. (Carcinogenesis 2011)
    10. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. (PubMed id 21946350)1, 4 Soler Artigas M....Tobin M.D. (Nat. Genet. 2011)

    (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: 1136 HGNC: 1957 AceView: CHRNA3 Ensembl:ENSG00000080644 euGenes: HUgn1136
    ECgene: CHRNA3 Kegg: 1136 H-InvDB: CHRNA3

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for CHRNA3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CHRNA3 gene:
    Search GeneIP for patents involving CHRNA3

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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