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

CHRNG Gene

protein-coding   GIFtS: 63
GCID: GC02P233404

Cholinergic Receptor, Nicotinic, Gamma (Muscle)

(Previous names: cholinergic receptor, nicotinic, gamma)
(Previous symbol: ACHRG)
  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, 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 pterygium, and neonatal myasthenia gravis, 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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CHRNG

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

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P07510

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

    CHRNG Protein Expression
    REFSEQ proteins: NP_005190.4  
    ENSEMBL proteins: 
     ENSP00000374145   ENSP00000374143  
    Reactome Protein details: P07510
    Human Recombinant Protein Products for CHRNG: 
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    Browse Sino Biological Recombinant Proteins
    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:0005887integral to plasma membrane TAS3967651
    GO:0005892acetylcholine-gated channel complex IEA--
    GO:0016020membrane ----
    GO:0016021integral to membrane ----

    CHRNG for ontologies           About GeneDecksing



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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (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: &gamma 
    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 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


    CHRNG 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: 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 (GO ID links to tree view):    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
         
    CHRNG for ontologies           About GeneDecksing


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

    CHRNG for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Chrngtm1Mtak for CHRNG

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

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

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    hsa-miR-186* hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidCHRNG 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNG


    (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 CHRNG 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 sodium permeable acetylcholine nicotinic receptors0.58
    Activation of Nicotinic Acetylcholine Receptors0.86
    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 CHRNG
        Calcium channels

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


    5/8        Reactome Pathways for CHRNG (see all 8)
        Activation of Nicotinic Acetylcholine Receptors
    Transmission across Chemical Synapses
    Acetylcholine Binding And Downstream Events
    Neuronal System
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell


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


    CHRNG for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CHRNG

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

    5/15 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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    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--

    CHRNG 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 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

    Search CenterWatch for drugs/clinical trials and news about CHRNG / ACHG

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

    REFSEQ mRNAs for 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 QIAGEN miScript miRNA Assays for microRNAs that regulate CHRNG:
    hsa-miR-186* hsa-miR-4267
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      QIAGEN 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:

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

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CHRNG expression in normal human tissues (normalized intensities)      CHRNG embryonic expression: see
    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 
     5/4 selected tissues (see all 4) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 16 entries
             Mononuclear Myocytes Hyoid Arch Muscles
             Sacral Back Muscles
             pectoral girdle and thoracic body wall/skeletal muscle/subscapularis   
     
     Somite (Muscoskeletal System)    fully expand to see all 6 entries
             Thoracic Hypaxial Myotome
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Hindlimb Dorsal Muscle
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

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

    SOURCE GeneReport for Unigene cluster: Hs.248101
        SABiosciences Custom PCR Arrays for CHRNG
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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CHRNG gene from 5/12 species (see all 12)    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)
    67.99(a)
      429151  NM_001031568.1  NP_001026739.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHRNG6
    cholinergic receptor, nicotinic, gamma (muscle)
    63(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 


    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
    Paralogs for CHRNG gene
    CHRNA42  CHRNA52  CHRNA102  CHRNA22  CHRNA92  CHRNA12  CHRNB22  CHRNA62  
    CHRNA72  CHRNA32  CHRNE2  CHRFAM7A2  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

    CHRNG 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

    10/358 SNPs in CHRNG are shown (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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CHRNG
    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 17 diseases for CHRNG:    About MalaCards
    pterygium    neonatal myasthenia gravis    myasthenia gravis    chrng-related disorders
    multiple pterygium syndrome lethal type    alveolar rhabdomyosarcoma    fetal akinesia deformation sequence    cystic lymphangioma
    oligohydramnios    lymphangioma    corneal disease    congenital myasthenic syndrome
    scoliosis    rhabdomyosarcoma    nicotine dependence    short stature
    neuronitis

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

    CHRNG for disorders           About GeneDecksing

    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

    PubMed articles for CHRNG gene, integrated from 9 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. (2006)
    2. 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)
    3. 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)
    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. (2009)
    5. 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. (2008)
    6. 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. (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. (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. (2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1146 HGNC: 1967 AceView: CHRNG Ensembl:ENSG00000196811 euGenes: HUgn1146
    ECgene: CHRNG Kegg: 1146 H-InvDB: CHRNG

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

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



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