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CHRNG Gene

protein-coding   GIFtS: 63
GCID: GC02P233404

Cholinergic Receptor, Nicotinic, Gamma (Muscle)

(Previous names: cholinergic receptor, nicotinic, gamma)
(Previous symbol: ACHRG)
  See CHRNG-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cholinergic Receptor, Nicotinic, Gamma (Muscle)1 2     nicotinic1
ACHRG1 2 3 5     Acetylcholine Receptor Subunit Gamma2
Acetylcholine Receptor1     Acetylcholine Receptor, Muscle, Gamma Subunit2
Cholinergic Receptor, Nicotinic, Gamma1     Acetylcholine Receptor, Nicotinic, Gamma (Muscle)2
Gamma (Muscle)1     Cholinergic Receptor, Nicotinic, Gamma Polypeptide2

External Ids:    HGNC: 19671   Entrez Gene: 11462   Ensembl: ENSG000001968117   OMIM: 1007305   UniProtKB: P075103   

Export aliases for CHRNG gene to outside databases

Previous GC identifers: GC02P231461 GC02P232133 GC02P233368 GC02P233606 GC02P233229 GC02P233112 GC02P225255


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CHRNG Gene:
The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha
subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated
muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of
gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis
and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor
in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium
syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia
gravis.(provided by RefSeq, Sep 2009)

GeneCards Summary for CHRNG Gene:
CHRNG (cholinergic receptor, nicotinic, gamma (muscle)) is a protein-coding gene. Diseases associated with CHRNG include myasthenia gravis, neonatal transient, and chrng-related disorders. GO annotations related to this gene include acetylcholine-activated cation-selective channel activity and channel activity. An important paralog of this gene is CHRNA4.

UniProtKB/Swiss-Prot: ACHG_HUMAN, P07510
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 CHRNG Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHRNG gene promoter:
         GR   NF-1   GCNF   AP-4   IRF-2   COMP1   GCNF-1   SEF-1 (1)   GR-alpha   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHRNG promoter sequence
   Search Chromatin IP Primers for CHRNG

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


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

Entrez Gene cytogenetic band: 2q37.1   Ensembl cytogenetic band:  2q37.1   HGNC cytogenetic band: 2q37.1

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P233404:  view genomic region     (about GC identifiers)

Start:
233,404,437 bp from pter      End:
233,411,113 bp from pter
Size:
6,677 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ACHG_HUMAN, P07510 (See protein sequence)
Recommended Name: Acetylcholine receptor subunit gamma precursor  
Size: 517 amino acids; 57883 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
Sequence caution: Sequence=AAY24103.1; Type=Erroneous gene model prediction; Sequence=CAA25861.1; Type=Erroneous
gene model prediction;
Secondary accessions: B3KWM8 Q53RG2

Explore the universe of human proteins at neXtProt for CHRNG: NX_P07510

Explore proteomics data for CHRNG at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn52, Asn163
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_005190.4  
    ENSEMBL proteins: 
     ENSP00000374145   ENSP00000374143  
    Reactome Protein details: P07510

    CHRNG Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online peptides for CHRNG

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    antibodies-online antibodies for CHRNG (15 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CHRN: Ligand-gated ion channels / Acetylcholine receptors, nicotinic
    CHR: Cholinergic receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: gamma
    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 P07510

    ProtoNet protein and cluster: P07510

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


    UniProtKB/Swiss-Prot: ACHG_HUMAN, P07510
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1)
    subfamily. Gamma/CHRNG sub-subfamily


    Find genes that share domains with CHRNG           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACHG_HUMAN, P07510
    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 CHRNG:
    cholinergic receptor,nicotinic,gamma polypeptide

         Gene Ontology (GO): 5 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:0005515protein binding ----
    GO:0015267channel activity TAS3967651
    GO:0015464acetylcholine receptor activity TAS3967651
         
    Find genes that share ontologies with CHRNG           About GenesLikeMe


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Chrng):
     behavior/neurological  embryogenesis  growth/size/body  homeostasis/metabolism  integument 
     mortality/aging  muscle  nervous system  other  pigmentation 
     respiratory system 

    Find genes that share phenotypes with CHRNG           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Chrngtm1Mtak for CHRNG

       genOway: Develop your customized and physiologically relevant rodent model for CHRNG

    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate CHRNG:
    hsa-miR-186* hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidCHRNG 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Sino Biological Human cDNA Clone for CHRNG
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACHG_HUMAN, P07510: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS3967651
    GO:0005892acetylcholine-gated channel complex IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with CHRNG           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).
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    SuperPaths for CHRNG About   (see all 6)  
    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 CHRNG           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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


    1 Reactome Pathway for CHRNG
        Highly sodium permeable acetylcholine nicotinic receptors


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CHRNG
    Interactions:

        Search GeneGlobe Interaction Network for CHRNG

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

    Selected Interacting proteins for CHRNG (P075103 ENSP000003741454) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHRNA1P027083, ENSP000002610074I2D: score=2 STRING: ENSP00000261007
    CHRNA2ENSP000002401324STRING: ENSP00000240132
    CHRNA3ENSP000003156024STRING: ENSP00000315602
    CHRNA4ENSP000003592854STRING: ENSP00000359285
    CHRNA5ENSP000002995654STRING: ENSP00000299565
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS3967651
    GO:0006811ion transport ----
    GO:0006936muscle contraction TAS8040310
    GO:0007165signal transduction TAS3967651
    GO:0007268synaptic transmission TAS--

    Find genes that share ontologies with CHRNG           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CHRNG (ACHG)

    1 DrugBank Compound for CHRNG    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 )
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    REFSEQ mRNAs for CHRNG gene: 
    NM_005199.4  

    Unigene Cluster for CHRNG:

    Cholinergic receptor, nicotinic, gamma (muscle)
    Hs.248101  [show with all ESTs]
    Unigene Representative Sequence: AK125362
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000485094(uc010fyd.3) ENST00000389494(uc002vsx.1 uc010fye.1)
    ENST00000389492
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate CHRNG:
    hsa-miR-186* hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidCHRNG 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat CHRNG

    Additional mRNA sequence: 

    AK125362.1 AK309340.1 BC111802.1 

    1 DOTS entry:

    DT.91733987 

    15 AceView cDNA sequences:

    NM_005199 AI383547 AK125362 BE246065 BE165980 BQ352065 BQ376588 BE155284 
    BE155312 BE160802 BE155105 BE155103 BQ352064 BE155239 BQ352066 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CHRNG expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGACTGCACT
    CHRNG Expression
    About this image


    CHRNG expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 19 entries
             Mononuclear Myocytes Hyoid Arch Muscles
             Sacral Back Muscles
             pectoral girdle and thoracic body wall/skeletal muscle/subscapularis   
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Forelimb Dorsal Muscles
     
     Somite (Muscoskeletal System)    fully expand to see all 6 entries
             Cervical Epaxial Myotome
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    CHRNG Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHRNG Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.248101
        Custom PCR Arrays for CHRNG
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNG

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CHRNG gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chrng1 , 5 cholinergic receptor, nicotinic, gamma polypeptide1, 5 87.49(n)1
    90.52(a)1
      1 (44.07 cM)5
    114491  NM_009604.31  NP_033734.31 
     872058115 
    chicken
    (Gallus gallus)
    Aves CHRNG1 cholinergic receptor, nicotinic, gamma 71.77(n)
    67.74(a)
      429151  NM_001031568.1  NP_001026739.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHRNG6
    cholinergic receptor, nicotinic, gamma (muscle)
    64(a)
    1 ↔ 1
    GL343304.1(161038-189468)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3866692 acetylcholine receptor gamma subunit precursor 73.5(n)    X07068.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc54e062 wufc54e06 76.5(n)   325080  AI877868.1 
    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)
    30(a)
    30(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    IV(13174171-13179383) WBGene00002974
    X(6709538-6712926) WBGene00000043


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

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

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    Paralogs for CHRNG gene
    CHRNA42  CHRNA52  CHRNA22  CHRNA12  CHRNB22  CHRNA62  CHRNA32  CHRNE2  
    CHRND2  CHRNB12  CHRNB32  CHRNB42  
    14 SIMAP similar genes for CHRNG using alignment to 3 protein entries:     ACHG_HUMAN (see all proteins):
    CHRNA7-2    CHRND    CHRNA4    CHRNA5    CHRNB4    CHRNE
    CHRNA10    CHRNB3    CHRNA9    CHRNB1    CHRNB2    CHRNA1
    CHRNA7    CHRNA3

    Find genes that share paralogs with CHRNG           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)
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    Selected SNPs for CHRNG (see all 358)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0307554
    Multiple pterygium syndrome, lethal type (LMPS)4--see VAR_0307552 R C mis40--------
    VAR_0307534
    Multiple pterygium syndrome, lethal type (LMPS)4--see VAR_0307532 V G mis40--------
    rs1120018801,2
    C--225254651(+) GAGTT-/CCAAGA 1 -- us2k12Minor allele frequency- C:0.25CSA 4
    rs595716891,2
    C--225259099(+) CCCCC-/CATCCT 1 -- int10--------
    rs58394371,2
    C--225260973(+) GGGGCA/-GGGGG 1 -- int12Minor allele frequency- -:0.25NA CSA 4
    rs1925381551,2
    --232775105(+) TGTTGG/TCCCCA 1 -- us2k10--------
    rs130264091,2
    C,F--232775145(+) CTTAGC/TACCTA 1 -- us2k17Minor allele frequency- T:0.25NA WA EA 366
    rs1848537931,2
    --232775268(+) GAGGCA/GGCTGG 1 -- us2k10--------
    rs1881540621,2
    --232775369(+) GCGCCC/TGCCTG 1 -- us2k10--------
    rs119039401,2
    H--232775407(+) caagaA/Gaatcg 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CHRNG (233404437 - 233411113 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CHRNG:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv875977CNV Loss21882294
    nsv875998CNV Loss21882294
    dgv4454n71CNV Loss21882294
    nsv3212CNV Loss18451855
    nsv821918CNV Gain20364138
    nsv876000CNV Gain21882294

    Human Gene Mutation Database (HGMD): CHRNG
    Locus Specific Mutation Databases (LSDB): CHRNG

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CHRNG

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

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    OMIM gene information: 100730   
    OMIM disorders: 265000  253290  
    UniProtKB/Swiss-Prot: ACHG_HUMAN, P07510
  • Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]: Multiple pterygia are found infrequently in
    children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome
    there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe
    arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma
    and lung hypoplasia. Oligohydramnios and facial anomalies are frequent. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Multiple pterygium syndrome, Escobar variant (EVMPS) [MIM:265000]: Non-lethal form of arthrogryposis
    multiplex congenita. It is an autosomal recessive condition characterized by excessive webbing (pterygia),
    congenital contractures (arthrogryposis), and scoliosis. Variable other features include intrauterine death,
    congenital respiratory distress, short stature, faciocranial dysmorphism, ptosis, low-set ears, arachnodactyly
    and cryptorchism in males. Congenital contractures are common and may be caused by reduced fetal movements at
    sensitive times of development. Possible causes of decreased fetal mobility include space constraints such as
    oligohydramnion, drugs, metabolic conditions or neuromuscular disorders including myasthenia gravis. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 13 diseases for CHRNG:    
    About MalaCards
    myasthenia gravis, neonatal transient    chrng-related disorders    neonatal myasthenia gravis    cystic lymphangioma
    pterygium    multiple pterygium syndrome escobar type    myasthenia gravis    lymphangioma
    multiple pterygium syndrome lethal type    primary cutaneous amyloidosis    fetal akinesia deformation sequence    alveolar rhabdomyosarcoma
    refractive error

    2 diseases from the University of Copenhagen DISEASES database for CHRNG:
    Cystic lymphangioma     Congenital myasthenic syndrome

    Find genes that share disorders with CHRNG           About GenesLikeMe

    Genetic Association Database (GAD): CHRNG
    Human Genome Epidemiology (HuGE) Navigator: CHRNG (6 documents)

    Export disorders for CHRNG gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for CHRNG gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with CHRNG)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. (PubMed id 16826520)1, 2, 9 Hoffmann K.... Mundlos S. (Am. J. Hum. Genet. 2006)
    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 cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans. (PubMed id 20584212)1, 4 Saccone N.L....Bierut L.J. (Genes Brain Behav. 2010)
    4. 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)
    5. 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)
    6. Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study. (PubMed id 18625075)1, 4 McArdle P.F....Steinle N. (BMC Med. Genet. 2008)
    7. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. (PubMed id 16826531)1, 2 Morgan N.V....Maher E.R. (Am. J. Hum. Genet. 2006)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits. (PubMed id 7688301)1, 2 Beeson D.M.W.... Newsom-Davis J. (Eur. J. Biochem. 1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 1146 HGNC: 1967 AceView: CHRNG Ensembl:ENSG00000196811 euGenes: HUgn1146
    ECgene: CHRNG Kegg: 1146 H-InvDB: CHRNG

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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

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

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    Patent Information for CHRNG gene:
    Search GeneIP for patents involving CHRNG

    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, eBioscience, antibodies-online, 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
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