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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1146
Gene name	Cholinergic receptor nicotinic gamma subunit
Gene symbol	CHRNG
Synonyms (NCBI Gene)	ACHRG
Chromosome	2
Chromosome location	2q37.1
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 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

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

276

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of prenatal development or birth	Pathogenic	rs767503038	RCV001814005
Ankle flexion contracture	Likely pathogenic; Pathogenic	rs267606725, rs764266722	RCV001257365 RCV001257366
Arthrogryposis multiplex congenita	Likely pathogenic	rs1574645121	RCV000855458
Arthrogryposis-like hand anomaly	Likely pathogenic; Pathogenic	rs267606725, rs764266722	RCV001257365 RCV001257366
Autosomal recessive multiple pterygium syndrome	Likely pathogenic; Pathogenic	rs2106221995, rs777809198, rs1265493319, rs2106221597, rs2106221927, rs1404744271, rs751234287, rs797044677, rs765746795, rs2469745410, rs2469745168, rs201762781, rs2469750351, rs1559304988, rs768867302 View all (18 more)	RCV001730106 RCV005014655 RCV005014658 RCV002226870 RCV002226973 RCV002468822 RCV002468823 RCV003223392 RCV000201797 RCV003234967 RCV003234968 RCV003237293 RCV005022028 RCV005014755 RCV005014815 RCV005030197 RCV005030327 RCV005936624 RCV000020002 RCV000020003 RCV000020006 RCV000020007 RCV000020009 RCV000201795 RCV001007785 RCV000498334 RCV003147485 RCV000853328 RCV000660641 RCV002493380 RCV005021266 RCV001007829 RCV001196621
CHRNG-related disorder	Pathogenic	rs767503038, rs774279192	RCV000778602 RCV000778599
Fetal akinesia deformation sequence 1	Likely pathogenic	rs1574645121	RCV000855458
Lethal multiple pterygium syndrome	Likely pathogenic; Pathogenic	rs777809198, rs1265493319, rs751234287, rs797044677, rs765746795, rs2469751477, rs2469750351, rs1559304988, rs768867302, rs778176530, rs367938116, rs1485492241, rs121912670, rs121912671, rs267606726 View all (10 more)	RCV005014655 RCV005014658 RCV004782938 RCV004800314 RCV001775100 RCV003236547 RCV005022028 RCV005014755 RCV005014815 RCV005030197 RCV005030327 RCV005936624 RCV000020004 RCV005025075 RCV000020008 RCV001822997 RCV000020010 RCV003479120 RCV002496856 RCV003147486 RCV002265786 RCV000576904 RCV000660641 RCV002493380 RCV004526780
Other rare neuromuscular disorders	Pathogenic	rs774279192	RCV005865328
Peripheral neuropathy	Likely pathogenic; Pathogenic	rs777219451	RCV000449634
Scoliosis	Likely pathogenic; Pathogenic	rs267606725, rs764266722	RCV001257365 RCV001257366

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Conflicting classifications of pathogenicity	rs184423691	RCV005913857
CHRNG-associated hypo-akinesia disorder of prenatal onset	Conflicting classifications of pathogenicity	rs143800157, rs138232636, rs199937736, rs140623763	RCV005355615 RCV005365252 RCV005355657 RCV005367729
Multiple pterygium syndrome	Conflicting classifications of pathogenicity	rs764382582	RCV004798929
Rheumatoid arthritis	Conflicting classifications of pathogenicity	rs567899708	RCV001375908

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)