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

CHRNA5 Gene

protein-coding   GIFtS: 66
GCID: GC15P078857

Cholinergic Receptor, Nicotinic, Alpha 5 (Neuronal)

(Previous names: cholinergic receptor, nicotinic, alpha polypeptide 5)
Alzheimer's & Parkinson's Diseases Congress
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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 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics and Presynaptic nicotinic acetylcholine receptors. GO annotations related to this gene include acetylcholine-activated cation-selective channel activity and ligand-gated ion channel activity. An important paralog of this gene is CHRNA2.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CHRNA5

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

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P30532

  • CHRNA5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CHRNA5 Protein Expression
    REFSEQ proteins: NP_000736.2  
    ENSEMBL proteins: 
     ENSP00000299565   ENSP00000453519   ENSP00000378281   ENSP00000452641  
    Reactome Protein details: P30532
    Human Recombinant Protein Products for CHRNA5: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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 to membrane ----
    GO:0030054cell junction IEA--

    CHRNA5 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: α5 
    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 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,
    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: 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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for CHRNA5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CHRNA5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHRNA5 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for 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
    2Presynaptic nicotinic acetylcholine receptors
    Presynaptic nicotinic acetylcholine receptors0.86
    Postsynaptic nicotinic acetylcholine receptors0.86
    Acetylcholine Binding And Downstream Events0.86
    Highly calcium permeable postsynaptic nicotinic acetylcholine receptors0.82
    Activation of Nicotinic Acetylcholine Receptors0.86
    Highly calcium permeable nicotinic acetylcholine receptors0.82
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    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

    1 EMD Millipore Pathway for CHRNA5
        Calcium channels

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CHRNA5
        eNOS Signaling
    Intracellular Calcium Signaling

    1 BioSystems Pathway for CHRNA5
        Nicotine Activity on Dopaminergic Neurons


    5/9        Reactome Pathways for CHRNA5 (see all 9)
        Activation of Nicotinic Acetylcholine Receptors
    Transmission across Chemical Synapses
    Acetylcholine Binding And Downstream Events
    Highly calcium permeable nicotinic acetylcholine receptors
    Highly calcium permeable postsynaptic nicotinic acetylcholine receptors

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

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


    CHRNA5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CHRNA5

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

    5/16 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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport NAS1542648
    GO:0006811ion transport ----
    GO:0007165signal transduction NAS9009220
    GO:0007268synaptic transmission TAS9009220
    GO:0035094response to nicotine ----

    CHRNA5 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

    CHRNA5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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 (α5)    About this table 
    LigandTypeActionAffinityPubmed IDs
    α-conotoxin-GIC
    AntagonistAntagonist--
    α-conotoxin TxIA
    AntagonistAntagonist--
    α-conotoxin MII
    AntagonistAntagonist--
    α-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  

    Search CenterWatch for drugs/clinical trials and news about CHRNA5 / ACHA5

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CHRNA5 gene: 
    NM_000745.3  

    Unigene Clusters for CHRNA5:

    Cholinergic receptor, nicotinic, alpha 5 (neuronal)
    Hs.1614  [show with all ESTs], Hs.719767
    Unigene Representative Sequences: NM_000745, BC050469
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000299565(uc002bdy.3) ENST00000559554 ENST00000394802 ENST00000559576


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    Additional mRNA sequence: BC050469.1 

    5 DOTS entries:

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

    24/41 AceView cDNA sequences (see all 41):

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

    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

    CHRNA5 expression in normal human tissues (normalized intensities)      CHRNA5 embryonic expression: see
    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 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 19 entries
             Thalamus
             Septum   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
             brain/midbrain/lateral wall   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Ovary (Reproductive System)
             oocyte   
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer

    See CHRNA5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHRNA5

    SOURCE GeneReport for Unigene clusters: Hs.1614 Hs.719767
        SABiosciences Expression via Pathway-Focused PCR Array including CHRNA5: 
              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 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CHRNA5 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 Chrna51 , 5 cholinergic receptor, nicotinic, alpha polypeptide more1, 5 84.34(n)1
    90.74(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 79.53(n)
    85.55(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)
    About This Section
    Paralogs for CHRNA5 gene
    CHRNA22  CHRNA12  CHRNA62  CHRNA72  CHRNE2  CHRNB42  CHRNA42  CHRNA102  
    CHRNA92  CHRNB22  CHRNG2  CHRNA32  CHRFAM7A2  CHRNB32  CHRNB12  CHRND2  
    18/20 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) 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: ACHA5_HUMAN, P30532
    Polymorphism: 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]


    10/874 SNPs in CHRNA5 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 118505   
    OMIM disorders: 612052  
    20/23 diseases for CHRNA5 (see all 23):    About MalaCards
    lung cancer susceptibility 2    nicotine dependence    cannabis dependence    nicotine addiction
    frontal lobe epilepsy    autosomal dominant nocturnal frontal lobe epilepsy    lung cancer    substance dependence
    cocaine dependence    neuronitis    narcolepsy    chronic obstructive pulmonary disease
    alcohol dependence    lung adenocarcinoma    alcoholism    bipolar disorder
    periodontitis    neuroblastoma    schizophrenia    gastric cancer

    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


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

    PubMed articles for CHRNA5 gene, integrated from 9 sources (see all 172):
    (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. (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. 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. (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. (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. (2008)
    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. (2008)
    7. 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)
    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. (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 n icotine dependence. (PubMed id 19482438)1, 4, 9 Etter J.F....Bertrand D. (2009)
    10. Variants in Nicotinic Receptors and Risk for Nicotine Dependence. (PubMed id 18519524)1, 4, 9 Bierut L.J....Goate A.M. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1138 HGNC: 1959 AceView: CHRNA5 Ensembl:ENSG00000169684 euGenes: HUgn1138
    ECgene: CHRNA5 Kegg: 1138 H-InvDB: CHRNA5

    (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 CHRNA5 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 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



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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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