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CHRNA5 Gene

protein-coding   GIFtS: 67
GCID: GC15P078857

Cholinergic Receptor, Nicotinic, Alpha 5 (Neuronal)

(Previous names: cholinergic receptor, nicotinic, alpha polypeptide 5)
  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 5 (Neuronal)1 2     Acetylcholine Receptor, Nicotinic, Alpha 5 (Neuronal)2
LNCR22 5     Cholinergic Receptor, Neuronal Nicotinic, Alpha Polypeptide-52
Acetylcholine Receptor1     Neuronal Acetylcholine Receptor Subunit Alpha-52
Alpha 5 (Neuronal)1     Neuronal Nicotinic Acetylcholine Receptor, Alpha5 Subunit2
Cholinergic Receptor, Nicotinic, Alpha Polypeptide 51     NACHRA53
nicotinic1     

External Ids:    HGNC: 19591   Entrez Gene: 11382   Ensembl: ENSG000001696847   OMIM: 1185055   UniProtKB: P305323   

Export aliases for CHRNA5 gene to outside databases

Previous GC identifers: GC15P074936 GC15P071947 GC15P076433 GC15P076573 GC15P076644 GC15P055614


(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 CHRNA5 Gene:
The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of
ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be
heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to
susceptibility to lung cancer type 2 (LNCR2).(provided by RefSeq, Jun 2010)

GeneCards Summary for CHRNA5 Gene:
CHRNA5 (cholinergic receptor, nicotinic, alpha 5 (neuronal)) is a protein-coding gene. Diseases associated with CHRNA5 include lung cancer susceptibility 2, and nicotine dependence. 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: ACHA5_HUMAN, P30532
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 CHRNA5 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_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHRNA5 gene promoter:
         MAZR   Pax-6   MyoD   POU3F2   Evi-1   RORalpha1   PPAR-gamma1   IRF-7A   PPAR-gamma2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHRNA5 promoter sequence
   Search Chromatin IP Primers for CHRNA5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHRNA5


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

CHRNA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHRNA5 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P078857:  view genomic region     (about GC identifiers)

Start:
78,857,862 bp from pter      End:
78,887,611 bp from pter
Size:
29,750 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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: ACHA5_HUMAN, P30532 (See protein sequence)
Recommended Name: Neuronal acetylcholine receptor subunit alpha-5 precursor  
Size: 468 amino acids; 53054 Da
Subunit: Neuronal AChR seems to be composed of two different type of subunits: alpha and non-alpha (beta)
Secondary accessions: Q15824 Q99554

Explore the universe of human proteins at neXtProt for CHRNA5: NX_P30532

Explore proteomics data for CHRNA5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys119, Lys377
  • Glycosylation2 at Asn155, Asn183, Asn229
  • Modification sites at PhosphoSitePlus

  • See CHRNA5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000736.2  
    ENSEMBL proteins: 
     ENSP00000299565   ENSP00000453519   ENSP00000378281   ENSP00000452641  
    Reactome Protein details: P30532

    CHRNA5 Human Recombinant Protein Products:

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    Novus Biologicals CHRNA5 Protein
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    CHRNA5 Antibody Products:

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    CHRNA5 Assay Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (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: alpha5
    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 P30532

    ProtoNet protein and cluster: P30532

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


    UniProtKB/Swiss-Prot: ACHA5_HUMAN, P30532
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1)
    subfamily. Alpha-5/CHRNA5 sub-subfamily


    CHRNA5 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: ACHA5_HUMAN, P30532
    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 CHRNA5:
    cholinergic receptor,nicotinic,alpha 5 polypeptide,neuronal

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004889acetylcholine-activated cation-selective channel activity TAS--
    GO:0005230extracellular ligand-gated ion channel activity ----
    GO:0015276ligand-gated ion channel activity TAS--
    GO:0015464acetylcholine receptor activity IDA1542648
         
    CHRNA5 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CHRNA5:
     G0/1 arrest  Increased G1 DNA content 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Chrna5):
     behavior/neurological  nervous system 

    CHRNA5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Chrna5tm1Mdb for CHRNA5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHRNA5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CHRNA5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHRNA5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHRNA5

    miRNA
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    miRTarBase miRNAs that target CHRNA5:
    hsa-mir-10a-5p (MIRT047593), hsa-mir-132-3p (MIRT021766), hsa-mir-615-3p (MIRT039616)

    Block miRNA regulation of human, mouse, rat CHRNA5 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate CHRNA5:
    hsa-miR-3671 hsa-miR-607 hsa-miR-212 hsa-miR-132
    SwitchGear 3'UTR luciferase reporter plasmidCHRNA5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CHRNA5

    Gene Editing
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    Sino Biological Human cDNA Clone for CHRNA5
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHRNA5

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNA5


    (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
    ACHA5_HUMAN, P30532: 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 IC1542648
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0030054cell junction IEA--

    CHRNA5 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 CHRNA5 About   (see all 7)  
    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 CHRNA5
        eNOS Signaling
    Intracellular Calcium Signaling

    1 BioSystems Pathway for CHRNA5
        Nicotine Activity on Dopaminergic Neurons


    2 Reactome Pathways for CHRNA5
        Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
    Highly calcium permeable nicotinic acetylcholine receptors

    1 PharmGKB Pathway for CHRNA5
        Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics

    1 Kegg Pathway  (Kegg details for CHRNA5):
        Neuroactive ligand-receptor interaction


    CHRNA5 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including CHRNA5: 
              Neurotransmitter Receptors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CHRNA5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for CHRNA5 (P305323 ENSP000002995654) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHRNB4P309263, ENSP000002617514I2D: score=1 STRING: ENSP00000261751
    CHRNA2ENSP000002401324STRING: ENSP00000240132
    CHRNA3ENSP000003156024STRING: ENSP00000315602
    CHRNA4ENSP000003592854STRING: ENSP00000359285
    CHRNA6ENSP000002764104STRING: ENSP00000276410
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport NAS1542648
    GO:0006811ion transport ----
    GO:0006812cation transport TAS--
    GO:0007165signal transduction NAS9009220
    GO:0007268synaptic transmission TAS9009220

    CHRNA5 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 CHRNA5 (ACHA5)

    2 DrugBank Compounds for CHRNA5    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

    4 IUPHAR Ligands for CHRNA5 (alpha5)    About this table
    LigandTypeActionAffinityPubmed IDs
    alpha-conotoxin-GIC
    AntagonistAntagonist--
    alpha-conotoxin TxIA
    AntagonistAntagonist--
    alpha-conotoxin MII
    AntagonistAntagonist--
    alpha-conotoxin PnIA
    AntagonistAntagonist--

    2 PharmGKB related drug/compound annotations for CHRNA5 gene    About this table
    Drug/compound PharmGKB Annotation
    Drugs used in nicotine dependenceCA  
    nicotineCA  



    CHRNA5 for compounds           About GeneDecksing



    (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 CHRNA5 gene: 
    NM_000745.3  

    Unigene Cluster for CHRNA5:

    Cholinergic receptor, nicotinic, alpha 5 (neuronal)
    Hs.1614  [show with all ESTs]
    Unigene Representative Sequence: NM_000745
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000299565(uc002bdy.3) ENST00000559554 ENST00000394802 ENST00000559576

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    4 qRT-PCR Assays for microRNAs that regulate CHRNA5:
    hsa-miR-3671 hsa-miR-607 hsa-miR-212 hsa-miR-132
    SwitchGear 3'UTR luciferase reporter plasmidCHRNA5 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat CHRNA5

    Additional mRNA sequence: 

    AF385586.1 AJ584705.1 AJ584706.1 BC033639.1 M83712.1 U62434.1 Y08419.1 

    5 DOTS entries:

    DT.207840  DT.91747812  DT.209236  DT.91693580  DT.100020946 

    Selected AceView cDNA sequences (see all 41):

    BC033639 BM839817 AJ584706 BU623054 BG291359 CR619227 Y08419 BG291447 
    CA411814 BM542487 R15044 AU076497 BX332469 AJ584705 BU629603 BX107344 
    M83712 AF385586 U62434 NM_000745 BC050469 BQ723048 BF793290 AI582813 

    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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    CHRNA5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTAGCAGGCG
    CHRNA5 Expression
    About this image


    CHRNA5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
     
     NULL (Uncategorized)
             Neural rosettes
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer
    CHRNA5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHRNA5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1614
        Pathway & Disease-focused RT2 Profiler PCR Array including CHRNA5: 
              Neurotransmitter Receptors in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for CHRNA5
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNA5

    (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 chordates.

    Orthologs for CHRNA5 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chrna51 , 5 cholinergic receptor, nicotinic, alpha polypeptide more1, 5 84.46(n)1
    90.91(a)1
      9 (29.84 cM)5
    1108351  NM_176844.41  NP_789814.21 
     549808805 
    chicken
    (Gallus gallus)
    Aves CHRNA51 cholinergic receptor, nicotinic, alpha 5 (neuronal) 80.47(n)
    86.98(a)
      386577  NM_204415.1  NP_989746.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.135332 Transcribed sequence with moderate similarity to protein more 77(n)    BX730174.1 
    zebrafish
    (Danio rerio)
    Actinopterygii chrna51 cholinergic receptor, nicotinic, alpha 5 69.29(n)
    77.14(a)
      550584  NM_001017885.1  NP_001017885.1 


    ENSEMBL Gene Tree for CHRNA5 (if available)
    TreeFam Gene Tree for CHRNA5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CHRNA5 gene
    CHRNA42  CHRNA22  CHRNA12  CHRNB22  CHRNA62  CHRNG2  CHRNA32  CHRNE2  
    CHRND2  CHRNB32  CHRNB12  CHRNB42  
    Selected SIMAP similar genes for CHRNA5 using alignment to 5 protein entries:     ACHA5_HUMAN (see all proteins) (see all similar genes):
    CHRNB3    CHRNA4    CHRNA6    CHRNA2    CHRNA3    CHRNA1
    CHRNB4    CHRNA10    CHRNA7-2    CHRND    CHRNB1    CHRNG
    CHRNB2    CHRNA9    CHRNE    CHRNA7    GLRA3    HTR3E

    CHRNA5 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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    ACHA5_HUMAN, P30532: Genetic variations in CHRNA5 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 CHRNA5 (see all 874)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs169699681,2,,4
    C,F,Hother158922193(+) CGCTCG/AATTCT 2 /N /D mis1 ese329Minor allele frequency- A:0.25NA NS EA EU 10463
    rs3704329411,2
    C--55629920(+) TTCCAA/G/TTAGTC 1 -- int10--------
    rs3742322281,2
    C--55631922(+) AAAAA-/G/GAAA
            
    AAAAG
    1 -- int10--------
    rs571778351,2
    C--55631927(+) GAAAA-/G/GAAA
            
    AAAAG
    1 -- int10--------
    rs351171911,2
    C--55638327(+) TTTTT-/T/TT  
            
    AACTT
    1 -- int11NA 2
    rs38135691,2
    C,F--58895468(-) CAAACA/GAATAA 1 -- us2k1 tfbs31Minor allele frequency- G:0.21EA 120
    rs1485859121,2
    --58895501(+) GTCACG/TCTTTG 1 -- us2k10--------
    rs129118651,2
    C,F--58895508(+) TTTGCC/TTTTCA 1 -- us2k1 tfbs35Minor allele frequency- T:0.07NA EA 246
    rs38297871,2
    C,F--58895568(-) CATGAG/AAATGA 1 -- us2k17Minor allele frequency- A:0.16NA CSA WA EA 365
    rs1429596681,2
    C--58895575(+) CATGAG/TTATTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CHRNA5 (78857862 - 78887611 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CHRNA5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv518840CNV Loss19592680

    Human Gene Mutation Database (HGMD): CHRNA5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CHRNA5
    DNA2.0 Custom Variant and Variant Library Synthesis for CHRNA5

    (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.)
    About This Section

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    OMIM gene information: 118505   
    OMIM disorders: 612052  
    Selected diseases for CHRNA5 (see all 24):    
    About MalaCards
    lung cancer susceptibility 2    nicotine dependence    lung cancer susceptibility    nicotine addiction
    cannabis dependence    autosomal dominant nocturnal frontal lobe epilepsy    frontal lobe epilepsy    substance dependence
    cocaine dependence    lung cancer    neuronitis    lung adenocarcinoma
    narcolepsy    alcohol dependence    bipolar disorder    periodontitis
    parkinson's disease    schizophrenia    neuroblastoma    adenocarcinoma

    5 diseases from the University of Copenhagen DISEASES database for CHRNA5:
    Nicotine dependence     Lung cancer     Cocaine dependence     Alcohol dependence
    Chronic obstructive pulmonary disease

    CHRNA5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CHRNA5
    Human Genome Epidemiology (HuGE) Navigator: CHRNA5 (84 documents)

    Export disorders for CHRNA5 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 CHRNA5 gene, integrated from 10 sources (see all 178):
    (articles sorted by number of sources associating them with CHRNA5)
        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. Association of a single nucleotide polymorphism in neuronal acetylcholine receptor subunit alpha 5 (CHRNA5) with smoking status and with 'pleasurable buzz' during early experimentation with smoking. (PubMed id 18783506)1, 4, 9 Sherva R....Pomerleau O.F. (Addiction 2008)
    4. A risk allele for nicotine dependence in CHRNA5 is a protective allele for cocaine dependence. (PubMed id 18519132)1, 4, 9 Grucza R.A....Bierut L.J. (Biol. Psychiatry 2008)
    5. Smoking cessation and variations in nicotinic acetylcholine receptor subunits alpha-5, alpha-3, and beta-4 genes. (PubMed id 18996504)1, 4, 9 Breitling L.P....Brenner H. (Biol. Psychiatry 2009)
    6. Why do young women smoke? V. Role of direct and interactive effects of nicotinic cholinergic receptor gene variation on neurocognitive function. (PubMed id 17559419)1, 4, 9 Rigbi A....Lerer B. (Genes Brain Behav. 2008)
    7. 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)
    8. Transcription deregulation at the 15q25 locus in association with lung adenocarcinoma risk. (PubMed id 19223495)1, 4, 9 Falvella F.S....Dragani T.A. (Clin. Cancer Res. 2009)
    9. Association of genes coding for the alpha-4, alpha-5, beta-2 and beta-3 subunits of nicotinic receptors with cigarette smoking and nicotine dependence. (PubMed id 19482438)1, 4, 9 Etter J.F....Bertrand D. (Addict Behav 2009)
    10. Variants in nicotinic receptors and risk for nicotine dependence. (PubMed id 18519524)1, 4, 9 Bierut L.J....Goate A.M. (Am J Psychiatry 2008)

    (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: 1138 HGNC: 1959 AceView: CHRNA5 Ensembl:ENSG00000169684 euGenes: HUgn1138
    ECgene: CHRNA5 Kegg: 1138 H-InvDB: CHRNA5

    (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 CHRNA5 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 CHRNA5 gene:
    Search GeneIP for patents involving CHRNA5

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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