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

Summary

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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
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]

Genomic context

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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

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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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

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Lethal multiple pterygium syndrome

MIM: 253290

Genetic Testing Registry

Multiple pterygium syndrome Escobar type

MIM: 265000

Genetic Testing Registry

Interactions

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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

Pathways from BioSystems

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Acetylcholine Binding And Downstream Events, organism-specific biosystem (from REACTOME)
Acetylcholine Binding And Downstream Events, organism-specific biosystem
Acetylcholine Binding And Downstream Events
Activation of Nicotinic Acetylcholine Receptors, organism-specific biosystem (from REACTOME)
Activation of Nicotinic Acetylcholine Receptors, organism-specific biosystemNicotinic acetylcholine receptors (nAchR) are a subtype of acetylcholine receptors that are activated by nicotine and allow the influx of monovalent (sodium) and divalent cations(calcium), however, t...
Highly sodium permeable acetylcholine nicotinic receptors, organism-specific biosystem (from REACTOME)
Highly sodium permeable acetylcholine nicotinic receptors, organism-specific biosystemNicotinic acetylcholne receptors that have low Ca2+ permeability allow the influx of Na+ which causes depolarization of the membrane initiating voltage dependent responses such as activation of volt...
Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
Neuroactive ligand-receptor interaction, organism-specific biosystem
Neuroactive ligand-receptor interaction
Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
Neuroactive ligand-receptor interaction, conserved biosystem
Neuroactive ligand-receptor interaction
Neuronal System, organism-specific biosystem (from REACTOME)
Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
Postsynaptic nicotinic acetylcholine receptors, organism-specific biosystem (from REACTOME)
Postsynaptic nicotinic acetylcholine receptors, organism-specific biosystemNicotinic acetylcholine receptors are found in the postsynaptic terminals and these receptors are responsible in mediating postsynaptic currents. Most common types of postsynaptic nicotinic acetylcho...
Presynaptic nicotinic acetylcholine receptors, organism-specific biosystem (from REACTOME)
Presynaptic nicotinic acetylcholine receptors, organism-specific biosystemPresynaptic terminal acetylcholine receptors are located at or near nerve terminal and modulate the release of neurotransmitter such as glutamate, noradrenaline and dopamine. Activation of presynapti...
Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481644

RH80272 (e-PCR)
- UniSTS:87667

Genotypes

See CHRNG SNP Geneview Report
See CHRNG SNP Genotype Report
See CHRNG SNP Variation Viewer Report

Homology

Homologs of the CHRNG gene: The CHRNG gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
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

General protein information

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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

NCBI Reference Sequences (RefSeq)

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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

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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: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p10 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)

Alternate CHM1_1.0

Genomic

NC_018913.1 Alternate CHM1_1.0

Range

232777074..232783674

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01002018.1 (19886..26487)	None
genomic	AC092165.4	AAY24103.1
genomic	AMYH01011571.1 (130758..137358)	None
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