InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: CHRNG

Summary

InnateDB Gene

IDBG-83279.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CHRNG

Gene Name

cholinergic receptor, nicotinic, gamma (muscle)

Synonyms

ACHRG

Species

Homo sapiens

Ensembl Gene

ENSG00000196811

Encoded Proteins

IDBP-83283

cholinergic receptor, nicotinic, gamma

IDBP-83285

cholinergic receptor, nicotinic, gamma

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 2:232539727-232546403

Strand

Forward strand

Band

q37.1

Transcripts

ENST00000389494	ENSP00000374145
ENST00000389492	ENSP00000374143
ENST00000485094

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004889	acetylcholine-activated cation-selective channel activity
GO:0005230	extracellular ligand-gated ion channel activity
GO:0005515	protein binding
GO:0015267	channel activity
GO:0015464	acetylcholine receptor activity

Biological Process

GO:0006810	transport
GO:0006811	ion transport
GO:0006812	cation transport
GO:0006936	muscle contraction
GO:0007165	signal transduction
GO:0007268	synaptic transmission
GO:0034220	ion transmembrane transport
GO:0042391	regulation of membrane potential
GO:0055085	transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0005892	acetylcholine-gated channel complex
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0030054	cell junction
GO:0045211	postsynaptic membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000026253

View Gene Order

ENSBTAG00000045943

Not yet available

Pathways

NETPATH

REACTOME

REACT_13685

Neuronal System pathway

REACT_22149

Postsynaptic nicotinic acetylcholine receptors pathway

REACT_22223

Highly sodium permeable acetylcholine nicotinic receptors pathway

REACT_22126

Activation of Nicotinic Acetylcholine Receptors pathway

REACT_22336

Presynaptic nicotinic acetylcholine receptors pathway

REACT_13477

Transmission across Chemical Synapses pathway

REACT_15370

Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell pathway

REACT_15461

Acetylcholine Binding And Downstream Events pathway

KEGG

hsa04080

Neuroactive ligand-receptor interaction pathway

INOH

PID NCI

Cross-References

SwissProt

P07510

TrEMBL

UniProt Splice Variant

Entrez Gene

1146

UniGene

Hs.248101 Hs.692438

RefSeq

NM_005199

HUGO

HGNC:1967

OMIM

100730

CCDS

CCDS33400

HPRD

00009

IMGT

EMBL

AC092165 AK125362 X01715 X01716 X01717 X01718 X01719 X01720 X01721 X04759

GenPept

AAY24103 BAG54190 CAA25861

RNA Seq Atlas

1146