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

    Gene ID: 1146, updated on 2-Nov-2024

    Summary

    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; AllianceGenome:HGNC:1967
    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
    NEW
    Try the new Gene table
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    Genomic context

    See CHRNG in Genome Data Viewer
    Location:
    2q37.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (232539692..232548115)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (233026474..233034899)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (233404402..233412825)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233388351-233388860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233390966-233391619 Neighboring gene serine protease 56 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233398312-233398832 Neighboring gene cholinergic receptor nicotinic delta subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233399875-233400394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17323 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12460 Neighboring gene tigger transposable element derived 1 Neighboring gene microRNA 5001 Neighboring gene eukaryotic translation initiation factor 4E family member 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:233432608-233433807 Neighboring gene uncharacterized LOC105373929

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Autosomal recessive multiple pterygium syndrome
    MedGen: C0265261 OMIM: 265000 GeneReviews: Not available
    not available
    Lethal multiple pterygium syndrome
    MedGen: C1854678 OMIM: 253290 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC133376

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acetylcholine receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables acetylcholine-gated monoatomic cation-selective channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in acetylcholine receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in membrane depolarization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in monoatomic ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in synaptic transmission, cholinergic IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of acetylcholine-gated channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012954.2 RefSeqGene

      Range
      5001..13424
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1275

    mRNA and Protein(s)

    1. NM_005199.5NP_005190.4  acetylcholine receptor subunit gamma precursor

      See identical proteins and their annotated locations for NP_005190.4

      Status: REVIEWED

      Source sequence(s)
      AC092165, AK125362
      Consensus CDS
      CCDS33400.1
      UniProtKB/Swiss-Prot
      B3KWM8, P07510, Q14DU4, Q53RG2
      UniProtKB/TrEMBL
      A0A6F7YAP6
      Related
      ENSP00000498757.1, ENST00000651502.1
      Conserved Domains (2) summary
      cd19029
      Location:49241
      LGIC_ECD_nAChR_G; extracellular domain of nicotinic acetylcholine receptor subunit gamma (CHRNG)
      pfam02932
      Location:248492
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      232539692..232548115
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      233026474..233034899
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)