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

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Summary

Official Symbol: CHRNGprovided by HGNC
Official Full Name: cholinergic receptor, nicotinic, gamma (muscle)provided by HGNC
Primary source: 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; MGC133376
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]

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Genomic context

Location :: 2q37.1

Sequence :: Chromosome: 2; NC_000002.11 (233404437..233411038)

See CHRNG in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

We did not identify a clear difference in mutation spectrum of the CHRNG gene between lethal form and non-lethal forms of multiple pterygium syndromes
Title: CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.
Detection of PAX3/7-FKHR fusion gene by one-step RT-PCR is useful in the diagnosis of rhabdomyosarcomas (RMS) and that AChR-gamma is overexpressed in Chinese RMS patients.
Title: PAX--FKHR fusion genes and AChR-gamma in Chinese patients with rhabdomyosarcoma: diagnosis using formalin-fixed archival tissues.
constructed and characterized four AChR gamma extracellular domain variants
Title: Mutant forms of the extracellular domain of the human acetylcholine receptor gamma-subunit with improved solubility and enhanced antigenicity. The importance of the Cys-loop.
This study suggests for the first time in humans, a possible role for genetic variation in the neuromuscular nicotinic acetylcholine receptor, particularly the gamma subunit, in systolic blood pressure regulation
Title: Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study.
Observational study of gene-disease association. (HuGE Navigator)
Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
Mutations cxause lethal and nonlethal forms of multiple pterygium syndrome.
Title: Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.
A good correlation was found between the expression of PAX3/7-FKHR and AChR, while MyoD1 was more sensitive but less specific.
Title: Detection of bone marrow micrometastasis and microcirculating disease in rhabdomyosarcoma by a real-time RT-PCR assay.
CHRNG mutations identified in families with Escobar syndrome show that the trait is a congenital dysmorphology caused by transient inactivation of the neuromuscular endplate.
Title: Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

Submit: New GeneRIF Correction

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Multiple pterygium syndrome, lethal type

MIM: 253290

Myasthenia gravis, neonatal transient

MIM: 100730

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
P07510	P02708	CHRNA1		HPRD	PubMed
BioGRID:107568	BioGRID:107556	CHRNA1		BioGRID	PubMed	Co-fractionation

Function	Evidence Code	Pubs
acetylcholine receptor activity	TAS Traceable Author Statement more info	PubMed
acetylcholine-activated cation-selective channel activity	IEA Inferred from Electronic Annotation more info
channel activity	TAS Traceable Author Statement more info	PubMed
extracellular ligand-gated ion channel activity	IEA Inferred from Electronic Annotation more info
receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cation transport	IEA Inferred from Electronic Annotation more info
ion transmembrane transport	IEA Inferred from Electronic Annotation more info
muscle contraction	TAS Traceable Author Statement more info	PubMed
regulation of membrane potential	IEA Inferred from Electronic Annotation more info
signal transduction	TAS Traceable Author Statement more info	PubMed
synaptic transmission	TAS Traceable Author Statement more info
transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
acetylcholine-gated channel complex	IEA Inferred from Electronic Annotation more info
cell junction	IEA Inferred from Electronic Annotation more info
integral to 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
synapse	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: acetylcholine receptor subunit gamma

Names: acetylcholine receptor subunit gamma; acetylcholine receptor, muscle, gamma subunit; acetylcholine receptor, nicotinic, gamma (muscle); cholinergic receptor, nicotinic, gamma polypeptide

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NCBI Reference Sequences (RefSeq)

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

NG_012954.1 RefSeqGene

Range

5001..11602

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AK125362

Consensus CDS

CCDS33400.1

UniProtKB/Swiss-Prot

P07510

Related

ENSP00000374145, OTTHUMP00000203703, ENST00000389494, OTTHUMT00000330743

Conserved Domains (3) summary

TIGR00860
Location:23 – 495
Blast Score: 522

LIC; Cation transporter family protein

pfam02931
Location:26 – 241
Blast Score: 735

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:248 – 492
Blast Score: 492

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

233404437..233411038

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

225255337..225261938

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC092165.4	AAY24103.1
genomic	CH471063.1	EAW71004.1
		EAW71005.1
genomic	X01715.1	CAA25861.1
genomic	X01716.1	None
genomic	X01717.1	None
genomic	X01718.1	None
genomic	X01719.1	None
genomic	X01720.1	None
genomic	X01721.1	None
genomic	X04759.1	None
mRNA	AK125362.1	BAG54190.1
mRNA	AK309340.1	None
mRNA	BC111802.1	AAI11803.1