Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CHRNE Gene

protein-coding   GIFtS: 64
GCID: GC17M004801

Cholinergic Receptor, Nicotinic, Epsilon (Muscle)

(Previous names: cholinergic receptor, nicotinic, epsilon)
  See CHRNE-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

TryGeneCards Plus

Aliases
Cholinergic Receptor, Nicotinic, Epsilon (Muscle)1 2     Cholinergic Receptor, Nicotinic, Epsilon1
ACHRE2 3     Epsilon (Muscle)1
CMS1D2 5     nicotinic1
CMS1E2 5     Acetylcholine Receptor Subunit Epsilon2
CMS2A2 5     Acetylcholine Receptor, Nicotinic, Epsilon (Muscle)2
FCCMS2 5     AchR Epsilon Subunit2
SCCMS2 5     Cholinergic Receptor, Nicotinic, Epsilon Polypeptide2
Acetylcholine Receptor1     

External Ids:    HGNC: 19661   Entrez Gene: 11452   Ensembl: ENSG000001085567   OMIM: 1007255   UniProtKB: Q048443   

Export aliases for CHRNE gene to outside databases

Previous GC identifers: GC17M005220 GC17M004745 GC17M005001 GC17M004741 GC17M004689


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for CHRNE Gene:
Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of
four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The
acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the
gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital
myasthenic syndrome. (provided by RefSeq, Sep 2009)

GeneCards Summary for CHRNE Gene:
CHRNE (cholinergic receptor, nicotinic, epsilon (muscle)) is a protein-coding gene. Diseases associated with CHRNE include chrne-related congenital myasthenic syndrome, and slow-channel congenital myasthenic syndrome. GO annotations related to this gene include acetylcholine-activated cation-selective channel activity and acetylcholine receptor activity. An important paralog of this gene is CHRNA4.

UniProtKB/Swiss-Prot: ACHE_HUMAN, Q04844
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 CHRNE 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010718.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHRNE gene promoter:
         MAZR   RREB-1   ATF-2   RelA   NF-kappaB   RORalpha1   MZF-1   Pax-3   c-Jun   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHRNE promoter sequence
   Search Chromatin IP Primers for CHRNE

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


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

Entrez Gene cytogenetic band: 17p13.2   Ensembl cytogenetic band:  17p13.2   HGNC cytogenetic band: 17p13.2

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M004801:  view genomic region     (about GC identifiers)

Start:
4,801,064 bp from pter      End:
4,806,369 bp from pter
Size:
5,306 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: ACHE_HUMAN, Q04844 (See protein sequence)
Recommended Name: Acetylcholine receptor subunit epsilon precursor  
Size: 493 amino acids; 54697 Da
Subunit: Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon
(in mature muscle) chains
1 PDB 3D structure from and Proteopedia for CHRNE:
2DF9 (3D)    
Secondary accessions: D3DTK6

Explore the universe of human proteins at neXtProt for CHRNE: NX_Q04844

Explore proteomics data for CHRNE at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn86, Asn161

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

    REFSEQ proteins: NP_000071.1  
    ENSEMBL proteins: 
     ENSP00000293780  
    Reactome Protein details: Q04844

    CHRNE Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CHRNE
    GenScript Custom Purified and Recombinant Proteins Services for CHRNE
    Novus Biologicals CHRNE Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for CHRNE 

    CHRNE Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CHRNE
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for CHRNE
    Novus Biologicals CHRNE Antibodies
    Abcam antibodies for CHRNE
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for CHRNE
    LSBio Antibodies in human, mouse, rat for CHRNE

    CHRNE Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CHRNE
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CHRNE
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for CHRNE 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    CHRN: Ligand-gated ion channels / Acetylcholine receptors, nicotinic
    CHR: Cholinergic receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: epsilon
    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 Q04844

    ProtoNet protein and cluster: Q04844

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


    UniProtKB/Swiss-Prot: ACHE_HUMAN, Q04844
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1)
    subfamily. Epsilon/CHRNE sub-subfamily


    Find genes that share domains with CHRNE           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACHE_HUMAN, Q04844
    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 CHRNE:
    cholinergic receptor,nicotinic,epsilon polypeptide,muscle

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004889acetylcholine-activated cation-selective channel activity IEA--
    GO:0005230extracellular ligand-gated ion channel activity ----
    GO:0008324cation transmembrane transporter activity TAS8872460
    GO:0015464acetylcholine receptor activity TAS8872460
         
    Find genes that share ontologies with CHRNE           About GenesLikeMe


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

         7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Chrne):
     behavior/neurological  growth/size/body  mortality/aging  muscle  nervous system 
     no phenotypic analysis  respiratory system 

    Find genes that share phenotypes with CHRNE           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CHRNE: Chrnetm1Jrs Chrnetm1Vwi Chrnetm1Mtak

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

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

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat CHRNE using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CHRNE (see all 20):
    hsa-miR-142-3p hsa-miR-3194-5p hsa-miR-15a hsa-miR-4272 hsa-miR-4258 hsa-miR-4267 hsa-miR-424 hsa-miR-195
    SwitchGear 3'UTR luciferase reporter plasmidCHRNE 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CHRNE
    Predesigned siRNA for gene silencing in human, mouse, rat CHRNE

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CHRNE

    Clone
    Products:
         
    OriGene clones in human, mouse for CHRNE (see all 7)
    OriGene ORF clones in mouse, rat for CHRNE
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CHRNE (NM_000080)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHRNE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHRNE

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CHRNE
    Browse ESI BIO Cell Lines and PureStem Progenitors for CHRNE 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNE


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    ACHE_HUMAN, Q04844: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS8872460
    GO:0005892acetylcholine-gated channel complex TAS7531341
    GO:0016020membrane ----
    GO:0030054cell junction IEA--

    Find genes that share ontologies with CHRNE           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for CHRNE About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Activation of Nicotinic Acetylcholine Receptors
    Activation of Nicotinic Acetylcholine Receptors
    Postsynaptic nicotinic acetylcholine receptors0.00
    Presynaptic nicotinic acetylcholine receptors0.00
    Highly sodium permeable acetylcholine nicotinic receptors0.00
    Acetylcholine Binding And Downstream Events0.00
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    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
    5Peptide ligand-binding receptors
    Neuroactive ligand-receptor interaction0.36


    Find genes that share SuperPaths with CHRNE           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 BioSystems Pathway for CHRNE
        ErbB2/ErbB3 signaling events

    1 Reactome Pathway for CHRNE
        Highly sodium permeable acetylcholine nicotinic receptors


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

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

    Interactions:

        Search GeneGlobe Interaction Network for CHRNE

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

    Selected Interacting proteins for CHRNE (Q048443 ENSP000002937804) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHRNA1P027083, ENSP000002610074I2D: score=2 STRING: ENSP00000261007
    JUNENSP000003602664STRING: ENSP00000360266
    CHRNA2ENSP000002401324STRING: ENSP00000240132
    CHRNA3ENSP000003156024STRING: ENSP00000315602
    CHRNA4ENSP000003592854STRING: ENSP00000359285
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8872460
    GO:0006811ion transport ----
    GO:0006812cation transport TAS7531341
    GO:0006936muscle contraction TAS8872460
    GO:0007165signal transduction TAS8872460

    Find genes that share ontologies with CHRNE           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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

    Browse Tocris compounds for CHRNE (ACHE)

    1 DrugBank Compound for CHRNE    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Galantamine(-)-Galanthamine (see all 3)357-70-0targetallosteric modulator12137632 11129124 12481195 20480924 12177686 10971048



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

    TryGeneCards Plus

    REFSEQ mRNAs for CHRNE gene: 
    NM_000080.3  

    Unigene Cluster for CHRNE:

    Cholinergic receptor, nicotinic, epsilon (muscle)
    Hs.654535  [show with all ESTs]
    Unigene Representative Sequence: NM_000080
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000293780(uc002fzk.1) ENST00000572438 ENST00000575637
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CHRNE using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CHRNE (see all 20):
    hsa-miR-142-3p hsa-miR-3194-5p hsa-miR-15a hsa-miR-4272 hsa-miR-4258 hsa-miR-4267 hsa-miR-424 hsa-miR-195
    SwitchGear 3'UTR luciferase reporter plasmidCHRNE 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CHRNE
    Predesigned siRNA for gene silencing in human, mouse, rat CHRNE
    Clone
    Products:
         
    OriGene clones in human, mouse for CHRNE (see all 7)
    OriGene ORF clones in mouse, rat for CHRNE
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CHRNE (NM_000080)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHRNE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHRNE
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CHRNE
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CHRNE
      QuantiTect SYBR Green Assays in human, mouse, rat CHRNE
      QuantiFast Probe-based Assays in human, mouse, rat CHRNE

    Additional mRNA sequence: X66403.1 

    1 DOTS entry:

    DT.100794683 

    17 AceView cDNA sequences:

    X66403 NM_000080 BU159645 BE250876 AI041890 BE252859 CB854271 BF528767 
    AI185270 AW368328 BQ326952 BQ355013 BF344696 BF806878 AW577593 AA572853 
    BF738760 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CHRNE    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9
    SP1:                    -                                             
    SP2:                                                                  
    SP3:                                                                  


    ECgene alternative splicing isoforms for CHRNE

    (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)
    About This Section

    TryGeneCards Plus

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


    CHRNE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Skeletal Muscle (Muscoskeletal System)
             Extraocular Muscles
    CHRNE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHRNE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654535
        Pathway & Disease-focused RT2 Profiler PCR Array including CHRNE: 
              Neurotransmitter Receptors in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for CHRNE
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CHRNE
    QuantiTect SYBR Green Assays in human, mouse, rat CHRNE
    QuantiFast Probe-based Assays in human, mouse, rat CHRNE
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNE

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for CHRNE gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chrne1 , 5 cholinergic receptor, nicotinic, epsilon polypeptide1, 5 83.23(n)1
    89.64(a)1
      11 (43.14 cM)5
    114481  NM_009603.11  NP_033733.11 
     706148835 
    lizard
    (Anolis carolinensis)
    Reptilia CHRNE6
    cholinergic receptor, nicotinic, epsilon (muscle)
    54(a)
    1 ↔ 1
    GL344523.1(36-14889)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3866702 nicotinic acetylcholine receptor epsilon subunit precursor 72.54(n)    U19612.1 
    zebrafish
    (Danio rerio)
    Actinopterygii chrne6
    cholinergic receptor, nicotinic, epsilon
    53(a)
    1 ↔ 1
    5(40040556-40051539) ENSDARG00000034307
    fruit fly
    (Drosophila melanogaster)
    Insecta nAcRbeta-64B6
    nicotinic Acetylcholine Receptor beta 64B
    31(a)
    1 → many
    3L(4429349-4435993)
    worm
    (Caenorhabditis elegans)
    Secernentea lev-16
    acr-36
    (see all 4)
    Protein ACR-3 (acr-3) mRNA, complete cds
    (see all 4)
    29(a)
    26(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    IV(13174171-13179383) WBGene00002974
    X(6709538-6712926) WBGene00000043


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for CHRNE gene
    CHRNA42  CHRNA52  CHRNA22  CHRNA12  CHRNB22  CHRNA62  CHRNG2  CHRNA32  
    CHRND2  CHRNB12  CHRNB32  CHRNB42  
    15 SIMAP similar genes for CHRNE using alignment to 2 protein entries:     ACHE_HUMAN (see all proteins):
    CHRNA4    CHRND    CHRNB3    CHRNG    CHRNA3    CHRNA6
    CHRNA10    CHRNB2    CHRNB4    CHRNA1    CHRNA2    CHRNB1
    CHRNA5    CHRNA9    CHRNA7

    Find genes that share paralogs with CHRNE           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for CHRNE (see all 279)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289991101,2,,4
    CMyasthenic syndrome, congenital, slow-channel (SCCMS)4 pathogenic14791533(-) AGCCGC/TTCTTC 2 L F mis10--------
    rs289297681,2,,4
    CMyasthenic syndrome, congenital, slow-channel (SCCMS)4 untested14792730(-) AACCCC/TGCGAG 2 P L mis1 ese30--------
    VAR_0002914
    Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)4--see VAR_0002912 P L mis40--------
    VAR_0212154
    Myasthenic syndrome, congenital, fast-channel (FCCMS)4--see VAR_0212152 A P mis40--------
    VAR_0002924
    Myasthenic syndrome, congenital, slow-channel (SCCMS)4--see VAR_0002922 T P mis40--------
    VAR_0002894
    Myasthenic syndrome, congenital, fast-channel (FCCMS)4--see VAR_0002892 P L mis40--------
    VAR_0002934
    Myasthenic syndrome, congenital, slow-channel (SCCMS)4--see VAR_0002932 L F mis40--------
    VAR_0212134
    Myasthenic syndrome, congenital, fast-channel (FCCMS)4--see VAR_0212132 G R mis40--------
    VAR_0002944
    Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)4--see VAR_0002942 R W mis40--------
    VAR_0002904
    Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)4--see VAR_0002902 R L mis40--------

    HapMap Linkage Disequilibrium report for CHRNE (4801064 - 4806369 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CHRNE:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509647CNV Insertion20534489
    nsv907620CNV Loss21882294
    nsv833347CNV Loss17160897
    nsv833350CNV Loss17160897
    nsv833349CNV Loss17160897
    nsv907619CNV Loss21882294

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 100725   
    OMIM disorders: 601462  608930  608931  
    UniProtKB/Swiss-Prot: ACHE_HUMAN, Q04844
  • Note=The muscle AChR is the major target antigen in the autoimmune disease myasthenia gravis. Myasthenia
    gravis is characterized by sporadic muscular fatigability and weakness, occurring chiefly in muscles innervated
    by cranial nerves, and characteristically improved by cholinesterase-inhibiting drugs
  • Myasthenic syndrome, congenital, slow-channel (SCCMS) [MIM:601462]: A common congenital myasthenic
    syndrome. Congenital myasthenic syndromes are characterized by muscle weakness affecting the axial and limb
    muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and
    the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms
    fluctuate and worsen with physical effort. Congenital myasthenic syndrome slow-channel type is caused by kinetic
    abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Myasthenic syndrome, congenital, fast-channel (FCCMS) [MIM:608930]: A congenital myasthenic syndrome
    characterized by kinetic abnormalities of the AChR. Due in most cases to mutations that decrease activity of the
    AChR by slowing the rate of opening of the receptor channel, speeding the rate of closure of the channel, or
    decreasing the number of openings of the channel during ACh occupancy. The result is failure to achieve threshold
    depolarization of the endplate and consequent failure to fire an action potential. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)
    [MIM:608931]: A post-synaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited
    disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic
    proteins. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for CHRNE:    
    About MalaCards
    chrne-related congenital myasthenic syndrome    slow-channel congenital myasthenic syndrome    congenital myasthenic syndrome associated with acetylcholine receptor deficiency    myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency
    congenital myasthenic syndrome    myasthenic syndrome, fast-channel congenital    ectropion    myasthenic syndrome, congenital, with pre- and postsynaptic defects

    2 diseases from the University of Copenhagen DISEASES database for CHRNE:
    Myopathy     Neuropathy

    Find genes that share disorders with CHRNE           About GenesLikeMe

    1 Novoseek inferred disease relationship for CHRNE gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myasthenic syndromes congenital 90 1 16061559 (1)

    GeneTests: CHRNE
    GeneReviews: CHRNE
    Genetic Association Database (GAD): CHRNE
    Human Genome Epidemiology (HuGE) Navigator: CHRNE (4 documents)

    Export disorders for CHRNE 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

    TryGeneCards Plus

    PubMed articles for CHRNE gene, integrated from 10 sources (see all 55):
    (articles sorted by number of sources associating them with CHRNE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits. (PubMed id 7688301)1, 2, 3 Beeson D.M.W.... Newsom-Davis J. (Eur. J. Biochem. 1993)
    2. 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. (Hum. Genet. 2010)
    3. 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. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    4. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    5. Lack of association between acetylcholine receptor epsilon polymorphisms and early-onset myasthenia gravis. (PubMed id 14981744)1, 4 Bonifati D.M....Beeson D. (amp 2004)
    6. Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. (PubMed id 10962020)1, 2 Wang H.-L....Sine S.M. (J. Gen. Physiol. 2000)
    7. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. (PubMed id 9158150)1, 2 Ohno K.... Engel A.G. (Hum. Mol. Genet. 1997)
    8. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. (PubMed id 8872460)1, 2 Engel A.G....Sine S.M. (Hum. Mol. Genet. 1996)
    9. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. (PubMed id 8755487)1, 2 Ohno K.... Engel A.G. (Neuron 1996)
    10. A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome. (PubMed id 7538206)1, 2 Gomez C.M. and Gammack J.T. (Neurology 1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 1145 HGNC: 1966 AceView: CHRNE Ensembl:ENSG00000108556 euGenes: HUgn1145
    ECgene: CHRNE Kegg: 1145 H-InvDB: CHRNE

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for CHRNE Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CHRNE[genesymbol]

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

    TryGeneCards Plus
    Patent Information for CHRNE gene:
    Search GeneIP for patents involving CHRNE

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



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

    TryGeneCards Plus

     Browse Small Molecules at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of CHRNE
     Browse Purified and Recombinant Proteins at EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for CHRNE  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for CHRNE  
     OriGene qSTAR qPCR primer pairs in human, mouse for CHRNE   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for CHRNE   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CHRNE   OriGene Custom Protein Services for CHRNE  

     
     
     Block miRNA regulation of human, mouse, rat CHRNE using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CHRNE
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHRNE Predesigned siRNA for gene silencing in human, mouse, rat CHRNE
     QuantiFast Probe-based Assays in human, mouse, rat CHRNE QuantiTect SYBR Green Assays in human, mouse, rat CHRNE
     PCR Arrays including human, mouse, rat CHRNE Search Chromatin IP Primers for CHRNE
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CHRNE  Search GeneGlobe Interaction Network for CHRNE
     Regulatory tfbs in CHRNE promoter
     GenScript Custom Purified and Recombinant Proteins Services for CHRNE GenScript cDNA clones with any tag delivered in your preferred vector for CHRNE
     GenScript Custom Assay Services for CHRNE GenScript Custom overexpressing Cell Line Services for CHRNE
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for CHRNE (ACHE)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     CHRNE antibodies
     CHRNE proteins
     Antibodies for CHRNE
     See all of Abcam's Antibodies, Kits and Proteins for CHRNE
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for CHRNE
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNE
     SwitchGear 3'UTR luciferase reporter plasmids for CHRNE
     SwitchGear Promoter luciferase reporter plasmids for CHRNE
     ThermoFisher Antibodies for CHRNE
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHRNE
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHRNE
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CHRNE
     LSBio Antibodies in human, mouse, rat for CHRNE
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for CHRNE
      Search eBioscience for proteins for CHRNE
      Search eBioscience for elisas for CHRNE
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CHRNE gene at Home site.
    Version: 3.12.224 13 Oct 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4