Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1146
Gene name Gene Name - the full gene name approved by the HGNC.	Cholinergic receptor nicotinic gamma subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CHRNG
Synonyms (NCBI Gene) Gene synonyms aliases	ACHRG
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q37.1
Summary Summary of gene provided in NCBI Entrez Gene.	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 encode

Show/Hide all(20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912670	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121912672	C>T	Pathogenic	Stop gained, coding sequence variant
rs138125827	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs148468628	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150556220	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs267606725	C>T	Pathogenic	Coding sequence variant, stop gained
rs267606726	T>G	Pathogenic	Coding sequence variant, missense variant
rs747067203	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs764266722	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs765746795	C>G	Pathogenic	Coding sequence variant, missense variant
rs767503038	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs774279192	->A	Pathogenic	Coding sequence variant, frameshift variant
rs777219451	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs780249576	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs786205549	G>A	Likely-pathogenic	Splice donor variant
rs797044677	->C	Pathogenic	Frameshift variant, coding sequence variant
rs863223313	->AGGGTGCCG	Pathogenic	Coding sequence variant, inframe insertion
rs1559302834	C>T	Pathogenic	Coding sequence variant, stop gained
rs1574643342	C>T	Pathogenic	Stop gained, coding sequence variant
rs1574645121	TC>AA	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(14)

miRTarBase ID	miRNA	Experiments
MIRT1964382	hsa-miR-103a	CLIP-seq
MIRT1964383	hsa-miR-107	CLIP-seq
MIRT1964384	hsa-miR-1184	CLIP-seq
MIRT1964385	hsa-miR-1197	CLIP-seq
MIRT1964386	hsa-miR-1286	CLIP-seq
MIRT1964387	hsa-miR-214	CLIP-seq
MIRT1964388	hsa-miR-3117-5p	CLIP-seq
MIRT1964389	hsa-miR-3619-5p	CLIP-seq
MIRT1964390	hsa-miR-4418	CLIP-seq
MIRT1964391	hsa-miR-4436a	CLIP-seq
MIRT1964392	hsa-miR-4704-5p	CLIP-seq
MIRT1964393	hsa-miR-509-3-5p	CLIP-seq
MIRT1964394	hsa-miR-509-5p	CLIP-seq
MIRT1964395	hsa-miR-761	CLIP-seq

Show/Hide all(34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003009	Process	Skeletal muscle contraction	IBA
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 29892012, 31515488, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	3967651
GO:0005892	Component	Acetylcholine-gated channel complex	IBA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006936	Process	Muscle contraction	IEA
GO:0006936	Process	Muscle contraction	TAS	8040310
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	3967651
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007271	Process	Synaptic transmission, cholinergic	IEA
GO:0015267	Function	Channel activity	IEA
GO:0015267	Function	Channel activity	TAS	3967651
GO:0015464	Function	Acetylcholine receptor activity	IBA
GO:0015464	Function	Acetylcholine receptor activity	TAS	3967651
GO:0016020	Component	Membrane	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IBA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051899	Process	Membrane depolarization	IBA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0095500	Process	Acetylcholine receptor signaling pathway	IBA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	ISS

MIM	HGNC	e!Ensembl
100730	1967	ENSG00000196811

Protein

UniProt ID

P07510

Protein name

Acetylcholine receptor subunit gamma

Protein function

After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	26 → 241	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	248 → 492	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MHGGQGPLLLLLLLAVCLGAQGRNQEERLLADLMQNYDPNLRPAERDSDVVNVSLKLTLT
NLISLNEREEALTTNVWIEMQWCDYRLRWDPRDYEGLWVLRVPSTMVWRPDIVLENNVDG
VFEVALYCNVLVSPDGCIYWLPPAIFRSACSISVTYFPFDWQNCSLIFQSQTYSTNEIDL
QLSQEDGQTIEWIFIDPEAFTENGEWAIQHRPAKMLLDPAAPAQEAGHQKVVFYLLIQRK
PLFYVINIIAPCVLISSVAILIHFLPAKAGGQKCTVAINVLLAQTVFLFLVAKKVPETSQ
AVPLISKYLTFLLVVTILIVVNAVVVLNVSLRSPHTHSMARGVRKVFLRLLPQLLRMHVR
PLAPAAVQDTQSRLQNGSSGWSITTGEEVALCLPRSELLFQQWQRQGLVAAALEKLEKGP
ELGLSQFCGSLKQAAPAIQACVEACNLIACARHQQSHFDNGNEEWFLVGRVLDRVCFLAM
LSLFICGTAGIFLMAHYNRVPALPFPGDPRPYLPSPD

Sequence length

517

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction		Highly sodium permeable postsynaptic acetylcholine nicotinic receptors

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Lethal Multiple Pterygium Syndrome	lethal multiple pterygium syndrome	rs777219451, rs121912672, rs747067203, rs767503038, rs780249576, rs797044677, rs774279192, rs121912670, rs1553578312, rs765746795, rs764266722, rs1574645121, rs267606726	N/A
Multiple Pterygium Syndrome	autosomal recessive multiple pterygium syndrome	rs1574643342, rs121912672, rs747067203, rs767503038, rs780249576, rs774279192, rs267606725, rs797044677, rs765746795, rs121912670, rs764266722, rs121912671, rs267606726, rs777219451	N/A
Peripheral Neuropathy	peripheral neuropathy	rs777219451	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Akinesia	CHRNG-associated hypo-akinesia disorder of prenatal onset	N/A	N/A	GenCC
Myasthenia Gravis	transient neonatal myasthenia gravis	N/A	N/A	GenCC

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abortion Habitual	Associate	27245440
Arthrogryposis	Associate	26752647
Chronic Disease	Associate	18625075
Dermatitis	Associate	38152395
Diabetes Mellitus	Associate	18625075
Fetal akinesia syndrome X linked	Associate	16826531, 18179903
Fetal Diseases	Associate	31299979
Mucopolysaccharidosis III	Associate	27245440
Multiple pterygium syndrome	Associate	16826531, 18179903, 24038971, 24254455, 27245440, 29891879, 36292632
Ovarian Diseases	Associate	31646556
Pena Shokeir syndrome type 1	Associate	25537362
Pneumonia	Associate	38152395
Stillbirth	Associate	27245440
Tobacco Use Disorder	Associate	20584212

CHRNG (cholinergic receptor nicotinic gamma subunit)