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    CHRNG cholinergic receptor nicotinic gamma subunit [ Homo sapiens (human) ]

    Gene ID: 1146, updated on 5-Nov-2017
    Official Symbol
    CHRNGprovided by HGNC
    Official Full Name
    cholinergic receptor nicotinic gamma subunitprovided by HGNC
    Primary source
    HGNC:HGNC:1967
    See related
    Ensembl:ENSG00000196811 MIM:100730; Vega:OTTHUMG00000153327
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACHRG
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    Location:
    2q37.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (232539727..232546328)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (233404424..233411038)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene protease, serine 56 Neighboring gene cholinergic receptor nicotinic delta subunit Neighboring gene tigger transposable element derived 1 Neighboring gene microRNA 5001 Neighboring gene eukaryotic translation initiation factor 4E family member 2

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Lethal multiple pterygium syndrome
    MedGen: C1854678 OMIM: 253290 GeneReviews: Not available
    Compare labs
    Multiple pterygium syndrome Escobar type
    MedGen: C0265261 OMIM: 265000 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC133376

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to acetylcholine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acetylcholine receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    contributes_to acetylcholine-gated cation-selective channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    ligand-gated ion channel activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cation transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
     
    muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    neuromuscular synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to nicotine IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    synaptic transmission, cholinergic IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    acetylcholine-gated channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    acetylcholine receptor subunit gamma
    Names
    acetylcholine receptor, muscle, gamma subunit
    acetylcholine receptor, nicotinic, gamma (muscle)
    cholinergic receptor, nicotinic gamma
    cholinergic receptor, nicotinic, gamma (muscle)
    cholinergic receptor, nicotinic, gamma polypeptide

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012954.1 RefSeqGene

      Range
      5001..11602
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005199.4NP_005190.4  acetylcholine receptor subunit gamma precursor

      See identical proteins and their annotated locations for NP_005190.4

      Status: REVIEWED

      Source sequence(s)
      AK125362
      Consensus CDS
      CCDS33400.1
      UniProtKB/Swiss-Prot
      P07510
      Related
      ENSP00000374145.3, OTTHUMP00000203703, ENST00000389494.7, OTTHUMT00000330743
      Conserved Domains (3) summary
      TIGR00860
      Location:23495
      LIC; Cation transporter family protein
      pfam02931
      Location:26241
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:248492
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      232539727..232546328
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      233410527..233417126
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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