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

CHRNA3 Gene

protein-coding   GIFtS: 65
GCID: GC15M078885

Cholinergic Receptor, Nicotinic, Alpha 3 (Neuronal)

(Previous names: cholinergic receptor, nicotinic, alpha polypeptide 3)
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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, 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 megacystis microcolon intestinal hypoperistalsis syndrome, and lung cancer susceptibility 2, and among its related super-pathways are Nicotine Pathway (Chromaffin Cell), Pharmacodynamics and Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics. 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: 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 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 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 SABiosciences Chromatin IP Primers for CHRNA3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P32297

  • CHRNA3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CHRNA3 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000734.2  NP_001160166.1  

    ENSEMBL proteins: 
     ENSP00000452896   ENSP00000267951   ENSP00000315602   ENSP00000453993  
    Reactome Protein details: P32297
    Human Recombinant Protein Products for CHRNA3: 
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    Novus Biologicals CHRNA3 Proteins
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (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 to membrane NAS8906617

    CHRNA3 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: α3 
    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 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


    CHRNA3 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: 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): 5/6 molecular function terms (GO ID links to tree view) (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
         
    CHRNA3 for ontologies           About GeneDecksing


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

    CHRNA3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Chrna3tm1Bay for CHRNA3

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CHRNA3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CHRNA3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHRNA3 
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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 CHRNA3 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Nicotine Activity on Chromaffin Cells
    Nicotine Pathway (Chromaffin Cell), Pharmacodynamics1.00
    Nicotine Activity on Chromaffin Cells1.00
    2Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
    Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics0.44
    Nicotine Activity on Dopaminergic Neurons0.44
    3Presynaptic 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
    4Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    5CREB Pathway
    Intracellular Calcium Signaling0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CHRNA3
        Calcium channels

    2 Downloadable PowerPoint Slides of QIAGEN 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


    5/10        Reactome Pathways for CHRNA3 (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

    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


    CHRNA3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CHRNA3

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

    5/17 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
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006811ion transport NAS8906617
    GO:0006937regulation of muscle contraction ----
    GO:0006940regulation of smooth muscle contraction ISS--
    GO:0007165signal transduction IDA8906617

    CHRNA3 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

    CHRNA3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    10/12 IUPHAR Ligands for CHRNA3 (α3) (see all 12)    About this table 
    LigandTypeActionAffinityPubmed IDs
    [125I]epibatidine
    NoneNone9.64--
    [3H]epibatidine
    NoneNone9.64--
    mecamylamine
    Channel blockerNone6.41--
    α-conotoxin TxIA
    AntagonistAntagonist6.41--
    A-867744
    Channel blockerNone6.4119389923
    α-conotoxin-GIC
    AntagonistAntagonist6.41--
    α-conotoxin AuIB
    AntagonistAntagonist6.41--
    [3H]cytisine
    NoneNone6.41--
    α-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  

    Search CenterWatch for drugs/clinical trials and news about CHRNA3 / ACHA3

    (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,
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    About This Section

    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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      QIAGEN 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 

    24/82 AceView cDNA sequences (see all 82):

    BQ889957 BC006114 AJ584707 BM666615 BU730104 BE382752 AJ584708 BM698388 
    BU736141 AW183452 BP341887 BI195946 X53559 BM703674 CK003536 BF110052 
    BE383379 BX437801 Y08418 BQ720344 BT006897 BI195149 AW245973 BE314268 

    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™, 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

    CHRNA3 expression in normal human tissues (normalized intensities)      CHRNA3 embryonic expression: see
    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 
     5/9 selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 21 entries
             Thalamus
             Septum   
     
     Thymus (Hematopoietic System)    fully expand to see all 3 entries
             Double Positive Thymocytes Thymus
             Thymus   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Primitive Spinal Cord
             brain/midbrain/lateral wall   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 3 entries
             PERIPHERAL NERVOUS SYSTEM   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut

    See CHRNA3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHRNA3

    SOURCE GeneReport for Unigene cluster: Hs.89605
        SABiosciences Expression via Pathway-Focused PCR Array including CHRNA3: 
              Neurotransmitter Receptors in human mouse rat

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CHRNA3 gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chrna31 , 5 cholinergic receptor, nicotinic, alpha polypeptide 3 less1, 5 88.59(n)1
    93.08(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 75.82(n)
    83.4(a)
      386578  NM_204416.1  NP_989747.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5684671 neuronal acetylcholine receptor subunit alpha-3-like less 70.46(n)
    75.36(a)
      568467  XM_001921279.1  XP_001921314.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta nAcRalpha-96Aa3
    nAcRalpha-80B1
    nicotinic acetylcholine-activated
    cation-selective channel less3
    nicotinic Acetylcholine Receptor alpha 80B1
    55(a)
    (best of 7)3
    53.29(n)1
    48.9(a)1
      405211  NM_001104199.31  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)
    About This Section
    Paralogs for CHRNA3 gene
    CHRNA52  CHRNA22  CHRNA12  CHRNA62  CHRNA72  CHRNE2  CHRNB42  CHRNA42  
    CHRNA102  CHRNA92  CHRNB22  CHRNG2  CHRFAM7A2  CHRNB32  CHRNB12  CHRND2  
    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

    CHRNA3 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

    UniProtKB/Swiss-Prot: ACHA3_HUMAN, P32297
    Polymorphism: 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]


    10/865 SNPs in CHRNA3 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 118503   
    OMIM disorders: 612052  
    20/27 diseases for CHRNA3 (see all 27):    About MalaCards
    megacystis microcolon intestinal hypoperistalsis syndrome    lung cancer susceptibility 2    cannabis abuse    nicotine dependence
    frontal lobe epilepsy    autosomal dominant nocturnal frontal lobe epilepsy    nicotine addiction    lung cancer
    substance dependence    cocaine dependence    lung squamous cell carcinoma    neuronitis
    alpha 1-antitrypsin deficiency    chronic obstructive pulmonary disease    alcohol dependence    down syndrome
    lateral sclerosis    bipolar disorder    lung adenocarcinoma    squamous cell carcinoma

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

    CHRNA3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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

    PubMed articles for CHRNA3 gene, integrated from 9 sources (see all 199):
    (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. (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. (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. (2008)
    4. Sensorimotor gating is associated with CHRNA3 polymor phisms in schizophrenia and healthy volunteers. (PubMed id 20393456)1, 4, 9 Petrovsky N....Kumari V. (2010)
    5. 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, 9 Li M.D....Ma J.Z. (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. (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. (2002)
    8. 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)
    9. Genome-wide association and large-scale follow up iden tifies 16 new loci influencing lung function. (PubMed id 21946350)1, 4 Soler Artigas M....Tobin M.D. (2011)
    10. Analysis of genetic variants in never-smokers with lu ng cancer facilitated by an Internet-based blood collection protocol: a prelimi nary report. (PubMed id 20068085)1, 4 Girard N....Pao W. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 1136 HGNC: 1957 AceView: CHRNA3 Ensembl:ENSG00000080644 euGenes: HUgn1136
    ECgene: CHRNA3 Kegg: 1136 H-InvDB: CHRNA3

    (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 CHRNA3 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 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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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