Species

Homo sapiens

Symbol

CHRNG

Name

cholinergic receptor nicotinic gamma subunit

Synonyms

acetylcholine receptor subunit gamma
acetylcholine receptor, muscle, gamma subunit

Biotype

protein coding gene

Automated Description

Predicted to enable acetylcholine receptor activity and acetylcholine-gated monoatomic cation-selective channel activity. Predicted to be involved in acetylcholine receptor signaling pathway and membrane depolarization. Predicted to act upstream of or within regulation of membrane potential. Predicted to be located in postsynaptic membrane. Predicted to be part of acetylcholine-gated channel complex. Predicted to be active in neuron projection; plasma membrane; and synapse. Implicated in contractures, pterygia, and spondylocarpotarsal fusion syndrome.

RGD Description

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]

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR18945

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Paralogy

Function - GO Annotations

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Pathways

No data available

Phenotypes

Primary Sources

None

Other Sources

BioGRID CRISPR Screen Cell Line Phenotypes

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Disease Associations

Include negative annotationsCases where the expected disease association was NOT found

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Alleles and Variants

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Transgenic Alleles

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Models

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Sequence Feature Viewer

Genome location

Chr2:232539692...232548115 + (8.42 kb)

Assembly version

GRCh38

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Data currently unavailable; sequence viewer under construction

Sequence Details

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Expression

Primary Sources

None

Other Sources

Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

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Genetic Interactions

CHRNG role	CHRNG genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
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