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

Gene ID: 1146, updated on 18-Jul-2015
Official Symbol
CHRNGprovided by HGNC
Official Full Name
cholinergic receptor, nicotinic, gamma (muscle)provided by HGNC
Primary source
HGNC:HGNC:1967
See related
Ensembl:ENSG00000196811; HPRD:00009; 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]
Orthologs
See CHRNG in Epigenomics, MapViewer
Location:
2q37.1
Exon count:
12
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 (muscle) Neighboring gene microRNA 5001 Neighboring gene eukaryotic translation initiation factor 4E family member 2 Neighboring gene tigger transposable element derived 1 Neighboring gene uncharacterized LOC105373929 Neighboring gene EF-hand domain family, member D1

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-activated cation-selective channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
channel activity TAS
Traceable Author Statement
more info
PubMed 
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
 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
neurological system process IBA
Inferred from Biological aspect of Ancestor
more info
 
neuromuscular synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of membrane potential 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 TAS
Traceable Author Statement
more info
 
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 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
acetylcholine receptor subunit gamma
Names
acetylcholine receptor, muscle, gamma subunit
acetylcholine 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, OTTHUMP00000203703, ENST00000389494, OTTHUMT00000330743
    Conserved Domains (3) summary
    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
    TIGR00860
    Location:23495
    LIC; Cation transporter family protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 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)