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

CHRNA2 Gene

protein-coding   GIFtS: 68
GCID: GC08M027374

Cholinergic Receptor, Nicotinic, Alpha 2 (Neuronal)

(Previous names: cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal))
  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)
About This Section

Aliases
Cholinergic Receptor, Nicotinic, Alpha 2 (Neuronal)1 2     nicotinic1
Cholinergic Receptor, Nicotinic, Alpha Polypeptide 2 (Neuronal)1 2     Acetylcholine Receptor, Nicotinic, Alpha 2 (Neuronal)2
Acetylcholine Receptor1     Neuronal Acetylcholine Receptor Subunit Alpha-22
Alpha 2 (Neuronal)1     

External Ids:    HGNC: 19561   Entrez Gene: 11352   Ensembl: ENSG000001209037   OMIM: 1185025   UniProtKB: Q158223   

Export aliases for CHRNA2 gene to outside databases

Previous GC identifers: GC08M027100 GC08M027823 GC08M027340 GC08M025862


(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 CHRNA2 Gene:
Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of
alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout
the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene
encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a
conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable
cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations
in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms
(SNPs) in this gene have been associated with nicotine dependence. (provided by RefSeq, Nov 2009)

GeneCards Summary for CHRNA2 Gene: 
CHRNA2 (cholinergic receptor, nicotinic, alpha 2 (neuronal)) is a protein-coding gene. Diseases associated with CHRNA2 include epilepsy, nocturnal frontal lobe, type 4, and chrna2-related nocturnal frontal lobe epilepsy, autosomal dominant, and among its related super-pathways are Presynaptic nicotinic acetylcholine receptors and Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell. GO annotations related to this gene include acetylcholine-activated cation-selective channel activity and acetylcholine receptor activity. An important paralog of this gene is CHRNA5.

UniProtKB/Swiss-Prot: ACHA2_HUMAN, Q15822
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 CHRNA2 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_000008.10  NT_167187.1  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHRNA2 gene promoter:
         GR   PPAR-alpha   GR-beta   GR-alpha   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHRNA2 promoter sequence
   Search SABiosciences Chromatin IP Primers for CHRNA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHRNA2


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

Entrez Gene cytogenetic band: 8p21   Ensembl cytogenetic band:  8p21.2   HGNC cytogenetic band: 8p21

CHRNA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHRNA2 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M027374:  view genomic region     (about GC identifiers)

Start:
27,317,278 bp from pter      End:
27,337,400 bp from pter
Size:
20,123 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: ACHA2_HUMAN, Q15822 (See protein sequence)
Recommended Name: Neuronal acetylcholine receptor subunit alpha-2 precursor  
Size: 529 amino acids; 59765 Da
Subunit: Neuronal AChR seems to be composed of two different types of subunits: alpha and non-alpha (beta).
Alpha-2 subunit can be combined to beta-2 or beta-4 to give rise to functional receptors
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
membrane; Multi-pass membrane protein
Secondary accessions: A8KAX3 Q9HAQ3

Explore the universe of human proteins at neXtProt for CHRNA2: NX_Q15822

Explore proteomics data for CHRNA2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15822

  • CHRNA2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CHRNA2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000733.2  NP_001269384.1  

    ENSEMBL proteins: 
     ENSP00000429616   ENSP00000430612   ENSP00000240132   ENSP00000430422   ENSP00000430856  
     ENSP00000429953   ENSP00000430994   ENSP00000385026  
    Reactome Protein details: Q15822
    Human Recombinant Protein Products for CHRNA2: 
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    Novus Biologicals CHRNA2 Protein
    Novus Biologicals CHRNA2 Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005892acetylcholine-gated channel complex IDA8906617
    GO:0016020membrane ----
    GO:0016021integral to membrane NAS8906617
    GO:0030054cell junction IEA--

    CHRNA2 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: α2 
    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 Q15822

    ProtoNet protein and cluster: Q15822

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


    UniProtKB/Swiss-Prot: ACHA2_HUMAN, Q15822
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1)
    subfamily. Alpha-2/CHRNA2 sub-subfamily


    CHRNA2 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: ACHA2_HUMAN, Q15822
    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 CHRNA2:
    cholinergic receptor,nicotinic,alpha 2 polypeptide,neuronal

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004889acetylcholine-activated cation-selective channel activity IDA8906617
    GO:0005230extracellular ligand-gated ion channel activity ----
    GO:0015464acetylcholine receptor activity IDA8906617
         
    CHRNA2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CHRNA2:
     Increased Salmonella enterica  

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Chrna2):
     homeostasis/metabolism  nervous system  normal 

    CHRNA2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Chrna2tm1Jbou for CHRNA2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CHRNA2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CHRNA2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHRNA2 
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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 CHRNA2 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Presynaptic 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
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    3CREB Pathway
    Intracellular Calcium Signaling0.50
    4Nanog in Mammalian ESC Pluripotency
    eNOS Signaling0.48
    5Class A/1 (Rhodopsin-like receptors)
    Neuroactive ligand-receptor interaction0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CHRNA2
        Calcium channels

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CHRNA2
        eNOS Signaling
    Intracellular Calcium Signaling

    5/9        Reactome Pathways for CHRNA2 (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         Kegg Pathway  (Kegg details for CHRNA2):
        Neuroactive ligand-receptor interaction


    CHRNA2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CHRNA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/15 Interacting proteins for CHRNA2 (Q158223 ENSP000002401324) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHRNB2P177873, ENSP000003574614I2D: score=2 STRING: ENSP00000357461
    CHRNB4P309263, ENSP000002617514I2D: score=2 STRING: ENSP00000261751
    CHRNA3ENSP000003156024STRING: ENSP00000315602
    CHRNA4ENSP000003592854STRING: ENSP00000359285
    CHRNA7ENSP000003037274STRING: ENSP00000303727
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006811ion transport NAS8906617
    GO:0007165signal transduction IDA8906617
    GO:0007268synaptic transmission TAS--

    CHRNA2 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CHRNA2 (ACHA2)

    1 HMDB Compound for CHRNA2    About this table
    CompoundSynonyms CAS #PubMed Ids
    DextromethorphanBayer Select Flu Relief (see all 58)6700-34-1--

    10/20 DrugBank Compounds for CHRNA2 (see all 20)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    TubocurarineD-Tubocurarine (see all 6)6989-98-6targetantagonist18633030 17139284 11752352 17016423 19417616 11562442 20338223
    Galantamine(-)-Galanthamine (see all 3)357-70-0targetallosteric modulator12137632 11129124 12481195 20480924 12177686 10971048
    Mivacurium-- 106791-40-6targetantagonist16931985 17139284 11752352 17016423 19352159 19417616
    Rocuronium-- 119302-91-9targetantagonist16931985 18633030 17139284 11752352 17016423 19417616
    Decamethonium-- 156-74-1targetpartial agonist17139284 12067008 11752352 17016423 7848904
    Mecamylamine2-Methylamino-2,3,3-trimethylnorbornane (see all 6)60-40-2targetinhibitor17139284 19778551 11752352 17016423 12080428
    Metocurine-- 5152-30-7targetantagonist18633030 18842832 8132625 11752352 12799358
    Metocurine Iodide(+)-O,O'-Dimethylchondrocurarine Di-iodide (see all 8)7601-55-0targetantagonist18633030 17139284 11752352 17016423 6107062
    NicotineL-Nicotine (see all 2)54-11-5targetagonist19560048 20081230 15048644 20400469 11006350
    PipecuroniumPipecurium (see all 2)68399-58-6targetantagonist1748153 11752352 17016423 12426786 9227834

    6 IUPHAR Ligands for CHRNA2 (α2)    About this table 
    LigandTypeActionAffinityPubmed IDs
    [125I]epibatidine
    NoneNone10.38--
    [3H]epibatidine
    NoneNone10.38--
    LY2087101
    Allosteric regulatorPositive10.3816738207
    mecamylamine
    Channel blockerNone10.38--
    [3H]cytisine
    NoneNone10.38--
    hexamethonium
    Channel blockerNone10.38--

    Search CenterWatch for drugs/clinical trials and news about CHRNA2 / ACHA2

    (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,
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    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 CHRNA2 gene (2 alternative transcripts): 
    NM_000742.3  NM_001282455.1  

    Unigene Cluster for CHRNA2:

    Cholinergic receptor, nicotinic, alpha 2 (neuronal)
    Hs.57718  [show with all ESTs]
    Unigene Representative Sequence: NM_000742
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000520933 ENST00000520600 ENST00000523529 ENST00000523695 ENST00000240132
    ENST00000522008 ENST00000524096 ENST00000518712 ENST00000520650 ENST00000521921
    ENST00000520208 ENST00000407991(uc010lur.3 uc011lal.2 uc010lus.3)

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    Additional mRNA sequence: 

    AK296348.1 AK308465.1 AK314787.1 BC153866.1 U62431.1 Y16281.1 

    6 DOTS entries:

    DT.404266  DT.70105134  DT.101981363  DT.101981364  DT.101981365  DT.101981366 

    11 AceView cDNA sequences:

    BQ884264 CD013901 CD013902 Y16281 CD013903 CD013904 NM_000742 BP362682 
    U62431 CD013905 CF141093 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for CHRNA2 (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b
    SP1:                    -                       -                 -                                                   
    SP2:                                                              -                                                   
    SP3:                                            -                 -                       -                           
    SP4:                                            -                 -                       -     -     -               
    SP5:        -     -     -                       -                 -                                                   


    ECgene alternative splicing isoforms for CHRNA2

    (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

    CHRNA2 expression in normal human tissues (normalized intensities)      CHRNA2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAATAAAGA
    CHRNA2 Expression
    About this image


    CHRNA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
             Lateral funiculus   
     
     Spinal Cord (Nervous System)    fully expand to see all 3 entries
             Ventral Horn   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Eye (Sensory Organs)
             GABAergic Amacrine Cells Inner Nuclear Layer

    See CHRNA2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHRNA2

    SOURCE GeneReport for Unigene cluster: Hs.57718
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNA2

    (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 CHRNA2 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chrna21 , 5 cholinergic receptor, nicotinic, alpha polypeptide more1, 5 84.78(n)1
    85.97(a)1
      14 (34.36 cM)5
    1109021  NM_144803.21  NP_659052.11 
     661409605 
    chicken
    (Gallus gallus)
    Aves CHRNA21 cholinergic receptor, nicotinic, alpha 2 (neuronal) 80.84(n)
    80.63(a)
      395607  NM_204815.1  NP_990146.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHRNA26
    Uncharacterized protein
    82(a)
    1 ↔ 1
    GL343696.1(180420-196186)
    zebrafish
    (Danio rerio)
    Actinopterygii chrna22 cholinergic receptor, nicotinic, alpha polypeptide more 79.58(n)   394201  AY256908.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta nAcRalpha-96Aa3
    nAcRalpha-96Ab1
    nicotinic acetylcholine-activated
    cation-selective more3
    nicotinic Acetylcholine Receptor alpha 96Ab1
    58(a)
    (best of 8)3
    58.94(n)1
    50.33(a)1
      429191  NM_079758.21  NP_524482.11 


    ENSEMBL Gene Tree for CHRNA2 (if available)
    TreeFam Gene Tree for CHRNA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CHRNA2 gene
    CHRNA52  CHRNA12  CHRNA62  CHRNA72  CHRNE2  CHRNB42  CHRNA42  CHRNA102  
    CHRNA92  CHRNB22  CHRNG2  CHRNA32  CHRFAM7A2  CHRNB32  CHRNB12  CHRND2  
    18/19 SIMAP similar genes for CHRNA2 using alignment to 7 protein entries:     ACHA2_HUMAN (see all proteins) (see all similar genes):
    CHRNA6    CHRNA5    CHRNA3    CHRNA7-2    CHRNA1    HTR3A
    CHRNB2    CHRNB3    CHRNB4    CHRNA4    CHRNA7    CHRND
    HTR3B    CHRFAM7A    CHRNA9    CHRNB1    CHRNE    HTR3E

    CHRNA2 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

    10/620 SNPs in CHRNA2 are shown (see all 620)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0276414
    Epilepsy, nocturnal frontal lobe, 4 (ENFL4)4--see VAR_0276412 I N mis40--------
    rs1048940631,2
    Cpathogenic127558772(-) GCTCAA/TCTCCT 2 N I mis10--------
    rs2017506921,2
    C--25877130(-) TCCATA/CCATAT 1 -- int10--------
    rs1398149741,2
    --25881841(+) CACAT-/ACACACA 1 -- ut510--------
    rs718915531,2
    C--25881842(+) ACATA-/AC    
       
    /ACAC
    CACAC
    2 -- ut510--------
    rs1424755041,2
    --27317413(+) CCTCCA/GGAGAG 1 -- ut310--------
    rs10571371,2
    C,F,A,H--27317445(-) GCAGCC/ACCCAG 1 -- ut3115Minor allele frequency- A:0.21EA MN NS NA WA CSA 2443
    rs1134715921,2
    C--27317666(+) CTGGAG/ACCTCC 1 -- ut312Minor allele frequency- A:0.12CSA WA 120
    rs286972631,2
    C--27317700(+) CCACAC/TCTGTT 1 -- ut310--------
    rs22803761,2
    C,F,A,H--27317762(+) TGCCCG/AATCCC 1 -- ut3111Minor allele frequency- A:0.29EA NS NA CSA WA 2282

    HapMap Linkage Disequilibrium report for CHRNA2 (27317278 - 27337400 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CHRNA2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv831275CNV Loss17160897
    nsv890695CNV Gain21882294


    Human Gene Mutation Database (HGMD): CHRNA2
    SABiosciences Cancer Mutation PCR Assays
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    (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: 118502   
    OMIM disorders: 610353  
    UniProtKB/Swiss-Prot: ACHA2_HUMAN, Q15822
  • Epilepsy, nocturnal frontal lobe, 4 (ENFL4) [MIM:610353]: An autosomal dominant focal epilepsy
    characterized by nocturnal seizures associated with fear sensation, tongue movements, and nocturnal wandering,
    closely resembling nightmares and sleep walking. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 13 diseases for CHRNA2:    About MalaCards
    epilepsy, nocturnal frontal lobe, type 4    chrna2-related nocturnal frontal lobe epilepsy, autosomal dominant    epilepsy, nocturnal, frontal lobe type    nicotine dependence
    frontal lobe epilepsy    autosomal dominant nocturnal frontal lobe epilepsy    bipolar i disorder    focal epilepsy
    drug dependence    neuronitis    bipolar disorder    obesity
    schizophrenia

    1 disease from the University of Copenhagen DISEASES database for CHRNA2:
    Nicotine dependence

    CHRNA2 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for CHRNA2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epilepsy frontal lobe 92.4 4 17602836 (1), 19058950 (1), 18226955 (1)
    sleepwalking 80.4 1 17602836 (1)
    epilepsy 34.6 2 16826524 (1), 19383498 (1)

    GeneTests: CHRNA2
    GeneReviews: CHRNA2
    Genetic Association Database (GAD): CHRNA2
    Human Genome Epidemiology (HuGE) Navigator: CHRNA2 (22 documents)

    Export disorders for CHRNA2 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 CHRNA2 gene, integrated from 9 sources (see all 81):
    (articles sorted by number of sources associating them with CHRNA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CHRNA2 mutations are rare in the NFLE population: Evaluation of a large cohort of Italian patients. (PubMed id 18226955)1, 4, 9 Combi R....Luisa Tenchini M. (2008)
    2. A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely. (PubMed id 17602836)1, 4, 9 Gu W....Steinlein O.K. (2007)
    3. Increased sensitivity of the neuronal nicotinic receptor alpha2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. (PubMed id 16826524)1, 2, 9 Aridon P.... Casari G. (2006)
    4. A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy. (PubMed id 19058950)1, 4, 9 Chen Y....Xu Q. (2009)
    5. 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)
    6. Resequencing of nicotinic acetylcholine receptor gene s and association of common and rare variants with the FagerstrAPm test for nico tine dependence. (PubMed id 20736995)1, 4 Wessel J....Bergen A.W. (2010)
    7. Human Variation in Alcohol Response Is Influenced by Variation in Neuronal Signaling Genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (2010)
    8. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (2010)
    9. Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans. (PubMed id 20584212)1, 4 Saccone N.L....Bierut L.J. (2010)
    10. Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes. (PubMed id 19259974)1, 4 Saccone N.L....Bierut L.J. (2009)

    (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: 1135 HGNC: 1956 AceView: CHRNA2 Ensembl:ENSG00000120903 euGenes: HUgn1135
    ECgene: CHRNA2 Kegg: 1135 H-InvDB: CHRNA2

    (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 CHRNA2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHRNA2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CHRNA2 gene:
    Search GeneIP for patents involving CHRNA2

    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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