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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CHRNG Gene

protein-coding GIFtS: 60
GCID: GC02P233404

cholinergic receptor, nicotinic, gamma (muscle)

(Previous names: cholinergic receptor, nicotinic, gamma )
(Previous symbol: ACHRG)

Explore 19 diseases affiliated with
CHRNG via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cholinergic Receptor, Nicotinic, Gamma (Muscle)¹ ²		Acetylcholine Receptor, Muscle, Gamma Subunit²
ACHRG¹ ² ³ ⁵		Acetylcholine Receptor, Nicotinic, Gamma (Muscle)²
Cholinergic Receptor, Nicotinic, Gamma¹		Cholinergic Receptor, Nicotinic, Gamma Polypeptide²
Acetylcholine Receptor Subunit Gamma²

External Ids:	HGNC: 1967¹	Entrez Gene: 1146²	Ensembl: ENSG00000196811⁷	OMIM: 100730⁵	UniProtKB: P07510³

Export aliases for CHRNG gene to outside databases

Previous GC identifers: GC02P231461 GC02P232133 GC02P233368 GC02P233606 GC02P233229 GC02P233112 GC02P225255

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CHRNG:

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)

UniProtKB/Swiss-Prot: ACHG_HUMAN, P07510

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

summary for CHRNG:

Nicotinic receptors (nAChRs) are ligand-gated ion channels that modulate cell membrane potentials. Each

receptor is composed of pentameric combinations of subunits (alpha1-10, beta1-4, delta, epsilon and gamma).

Nicotinic receptors are generally divided into three functional classes: muscle subunits (alpha1, beta1,

delta, epsilon, gamma), standard neuronal subunits (alpha1-6 and beta2-4) that form in pairwise alphabeta

combinations, and subunits (alpha7-9) that can form homomeric nAChRs. Neuronal nicotinic receptors are found

in the central nervous system and in autonomic ganglia where they regulate processes such as transmitter

release, cell excitability and neuronal integration. Nicotinic receptors located at the neuromuscular

junctions of somatic muscles are responsible for muscular contraction.

Gene Wiki entry for CHRNG

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CHRNG gene promoter:
GR NF-1 GCNF AP-4 IRF-2 COMP1 GCNF-1 SEF-1 (1) GR-alpha GCNF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CHRNG promoter sequence

Search SABiosciences Chromatin IP Primers for CHRNG

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHRNG

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37.1 Ensembl cytogenetic band: 2q37.1 HGNC cytogenetic band: 2q37.1

CHRNG Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHRNG gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P233404: view genomic region (about GC identifiers)

Start:	233,404,437 bp from pter	End:	233,412,546 bp from pter
Size:	8,110 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ACHG_HUMAN, P07510 (See protein sequence)

Recommended Name: Acetylcholine receptor subunit gamma precursor

Size: 517 amino acids; 57883 Da

Subunit: Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in

mature muscle) chains

Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane;

Multi-pass membrane protein

Sequence caution: Sequence=AAY24103.1; Type=Erroneous gene model prediction; Sequence=CAA25861.1; Type=Erroneous gene

model prediction;

Secondary accessions: B3KWM8 Q53RG2

Explore the universe of human proteins at neXtProt for CHRNG: NX_P07510

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P07510

CHRNG Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_005190.4

ENSEMBL proteins:

ENSP00000374145 ENSP00000374143 ENSP00000440253

Reactome Protein details: P07510
Human Recombinant Protein Products:

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	Browse Proteins at Uscn

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	3967651
GO:0005892	acetylcholine-gated channel complex	IEA	--
GO:0016021	integral to membrane	--	--
GO:0030054	cell junction	IEA	--

CHRNG for ontologies About GeneDecksing

CHRNG Antibody Products:

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	ThermoFisher Antibodies for CHRNG

Assay Products for CHRNG:

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	GenScript Custom Assay Services for CHRNG
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CHRNG for domains About GeneDecksing

5 InterPro domains/families:

IPR002394 Nicotinic_acetylcholine_rcpt

IPR018000 Neurotransmitter_ion_chnl_CS

IPR006201 Neur_channel

IPR006202 Neur_chan_lig-bd

IPR006029 Neurotrans-gated_channel_TM

Graphical View of Domain Structure for InterPro Entry P07510

ProtoNet protein and cluster: P07510

2 Blocks protein families:

IPB002394 Nicotinic acetylcholine receptor signature

IPB006201 Neurotransmitter-gated ion-channel

UniProtKB/Swiss-Prot: ACHG_HUMAN, P07510

Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily.

Gamma/CHRNG sub-subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ACHG_HUMAN, P07510

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

Genatlas biochemistry entry for CHRNG:

cholinergic receptor,nicotinic,gamma polypeptide

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHRNG
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate CHRNG:
		hsa-miR-186* hsa-miR-4267
		SwitchGear 3'UTR luciferase reporter plasmid: CHRNG 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNG

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	--	--
GO:0004889	acetylcholine-activated cation-selective channel activity	IEA	--
GO:0005515	protein binding	--	--
GO:0015267	channel activity	TAS	3967651
GO:0015276	ligand-gated ion channel activity	--	--

CHRNG for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Chrng^tm1Mtak for CHRNG
     11 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Chrng):

behavior/neurological	embryogenesis	growth/size	homeostasis/metabolism	integument
mortality/aging	muscle	nervous system	other	pigmentation
respiratory system

CHRNG for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Presynaptic nicotinic acetylcholine receptors

Presynaptic nicotinic acetylcholine receptors	1.00	Acetylcholine Binding And Downstream Events	0.86
Activation of Nicotinic Acetylcholine Receptors	0.86	Highly sodium permeable acetylcholine nicotinic receptors	0.58
Postsynaptic nicotinic acetylcholine receptors	0.86

Transmission across Chemical Synapses

	Transmission across Chemical Synapses	1.00			Neuronal System	0.67
	Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	0.72

Calcium channels

Calcium channels

1.00

CREB Pathway

Intracellular Calcium Signaling

0.50

Nanog in Mammalian ESC Pluripotency

eNOS Signaling

0.48

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for CHRNG

Calcium channels

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CHRNG

	eNOS Signaling
	Intracellular Calcium Signaling

5/8 Reactome Pathways for CHRNG (see all 8)

	Activation of Nicotinic Acetylcholine Receptors
	Transmission across Chemical Synapses
	Acetylcholine Binding And Downstream Events
	Neuronal System
	Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell

1 Kegg Pathway (Kegg details for CHRNG):

Neuroactive ligand-receptor interaction

CHRNG for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CHRNG

STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

5/15 Interacting proteins for CHRNG (P07510³ ENSP00000374145⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 15)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CHRNA1	P02708³, ENSP00000261007⁴	I2D: score=2 STRING: ENSP00000261007
CHRNA2	ENSP00000240132⁴	STRING: ENSP00000240132
CHRNA3	ENSP00000315602⁴	STRING: ENSP00000315602
CHRNA4	ENSP00000359285⁴	STRING: ENSP00000359285
CHRNA5	ENSP00000299565⁴	STRING: ENSP00000299565

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	TAS	3967651
GO:0006936	muscle contraction	TAS	8040310
GO:0007165	signal transduction	TAS	3967651
GO:0007268	synaptic transmission	TAS	--
GO:0042391	regulation of membrane potential	IEA	--

CHRNG for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for CHRNG available from Tocris Bioscience About this table

Compound	Action	CAS #
alpha-Conotoxin EI	alpha1beta1deltagamma selective nAChR antagonist	[170663-33-9]
Mecamylamine hydrochloride	Non-competitive nicotinic receptor antagonist	[826-39-1]
(�)-Epibatidine	Very potent nicotinic agonist	[140111-52-0]
(�)-Anatoxin A fumarate	Nicotinic agonist	[64285-06-9]

1 DrugBank Compound for CHRNG About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Galantamine	(-)-Galanthamine (see all 3)	357-70-0	target	allosteric modulator	12137632 11129124 12481195 20480924 12177686 10971048

Search CenterWatch for drugs/clinical trials and news about CHRNG / ACHG

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CHRNG gene:

NM_005199.4

Unigene Cluster for CHRNG:

Cholinergic receptor, nicotinic, gamma (muscle)

Hs.248101 [show with all ESTs]

Unigene Representative Sequence: AK125362

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000485094(uc010fyd.3) ENST00000389494(uc002vsx.1 uc010fye.1)

ENST00000389492 ENST00000541596

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHRNG
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate CHRNG:
		hsa-miR-186* hsa-miR-4267
		SwitchGear 3'UTR luciferase reporter plasmid: CHRNG 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CHRNG

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		GenScript: all cDNA clones in your preferred vector: CHRNG (NM_005199)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHRNG

Additional cDNA sequence:

AK125362.1 AK309340.1 BC111802.1

1 DOTS entry:

DT.91733987

15 AceView cDNA sequences:

AK125362 AI383547 NM_005199 BE246065 BE165980 BQ376588 BQ352065 BE155312

BE160802 BE155284 BQ352064 BE155105 BE155239 BQ352066 BE155103

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CHRNG expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGACTGCACT

About this image

CHRNG expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/16 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 16)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Forelimb Dorsal Muscles

Limb

Forelimb Ventral Muscles

Limb

Hindlimb Dorsal Muscle

Limb

Skeletal Muscle

Cervical Back Muscles

Skeletal Muscle

Extraocular Muscles

Skeletal Muscle

Lumbar Back Muscles

Skeletal Muscle

Lumbar Vertebrae Column Muscles

Skeletal Muscle

Sacral Back Muscles

Skeletal Muscle

Thoracic Back Muscles

Skeletal Muscle

Thoracic Epaxial Myotome

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CHRNG Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CHRNG

SOURCE GeneReport for Unigene cluster: Hs.248101

SABiosciences Custom PCR Arrays for CHRNG

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHRNG

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNG

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CHRNG gene from 6/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CHRNG¹	cholinergic receptor, nicotinic, gamma	71.77(n) 67.99(a)		429151 NM_001031568.1 NP_001026739.1
lizard (Anolis carolinensis)	Reptilia	CHRNG⁶	--	64(a)	1 ↔ 1	GL343304.1(161720-184443)
African clawed frog (Xenopus laevis)	Amphibia	LOC386669²	acetylcholine receptor gamma subunit precursor	73.5(n)		X07068.1
zebrafish (Danio rerio)	Actinopterygii	wufc54e06²	wufc54e06	76.5(n)		325080 AI877868.1
fruit fly (Drosophila melanogaster)	Insecta	nAcRbeta-64B⁶	nicotinic Acetylcholine Receptor beta 64B	29(a)	1 → many	3L(4429349-4435993)
worm (Caenorhabditis elegans)	Secernentea	acr-3⁶ lev-1⁶ (see all 4)	Acetylcholine receptor subunit beta-type lev-1 (see all 4)	30(a) 29(a) (see all 4)	many ↔ many many ↔ many (see all 4)	X(6709499-6712887) IV(13174147-13179359)

ENSEMBL Gene Tree for CHRNG (if available)
TreeFam Gene Tree for CHRNG (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CHRNG gene

CHRNA5² CHRNA4² CHRNA10² CHRNA2² CHRNA9² CHRNA1² CHRNB2² CHRNA6²

CHRNA7² CHRNA3² CHRNE² CHRFAM7A² CHRND² CHRNB3² CHRNB1² CHRNB4²

16 SIMAP similar genes for CHRNG using alignment to 3 protein entries: ACHG_HUMAN (see all proteins):

CHRNA7-2 CHRNB4 CHRNA4 CHRNA5 CHRND CHRNE

CHRNA10 CHRNB3 CHRNA9 CHRNB1 CHRNB2 CHRNA1

CHRNA7 CHRNA3 CHRNA6 CHRNA2

CHRNG for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs11903940^1,2	H	--	225253660(+)	`caagaA/Gaatcg`	1	--	us2k¹		0	--	--	--	--
rs3811582^1,2	C	--	225254166(+)	`GAGAGT/CAAAGA`	1	--	us2k¹		1		NA	2
rs75797070^1,2	F,	--	225254342(+)	`AGGGAG/CGGGGA`	1	--	us2k¹		1		WA	118
rs112371119^1,2	F	--	225254455(+)	`GGGAGG/CGGGAA`	1	--	us2k¹		2		CSA	4
rs11674406^1,2	C,F,H	--	225254594(+)	`GCCCAG/ATGAGG`	1	--	us2k¹		5		NS EA NA	414
rs111695087^1,2	C,	--	225254711(+)	`AGAAAG/AAAGAA`	1	--	us2k¹		1		NA	2
rs13409315^1,2	C	--	225254909(+)	`CACCCA/CAATCC`	1	--	us2k¹		1		NA	2
rs79576636^1,2	F,	--	225254980(+)	`TTCCTC/TGGCGA`	1	--	us2k¹		1		WA	118
rs77998709^1,2	F,	--	225255029(+)	`CTTGCC/TCCCCA`	1	--	us2k¹		1		WA	118
rs78105132^1,2	F,	--	225255031(+)	`TGCCCC/GCCATG`	1	--	us2k¹		1		WA	118

HapMap Linkage Disequilibrium report for CHRNG (233404437 - 233412546 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CHRNG: --
Human Gene Mutation Database (HGMD): CHRNG

Locus Specific Mutation Databases (LSDB): CHRNG

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHRNG

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CHRNG for disorders           About GeneDecksing

OMIM gene information: 100730
OMIM disorders: 265000  253290
UniProtKB/Swiss-Prot: ACHG_HUMAN, P07510

Defects in CHRNG are a cause of multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]. Multiple

pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal

multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures

causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic

hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent

Defects in CHRNG are a cause of multiple pterygium syndrome, Escobar variant (EVMPS) [MIM:265000]. Non-lethal

form of arthrogryposis multiplex congenita. It is an autosomal recessive condition characterized by excessive webbing

(pterygia), congenital contractures (arthrogryposis), and scoliosis. Variable other features include intrauterine

death, congenital respiratory distress, short stature, faciocranial dysmorphism, ptosis, low-set ears, arachnodactyly

and cryptorchism in males. Congenital contractures are common and may be caused by reduced fetal movements at

sensitive times of development. Possible causes of decreased fetal mobility include space constraints such as

oligohydramnion, drugs, metabolic conditions or neuromuscular disorders including myasthenia gravis

19 diseases for CHRNG: About MalaCards

myasthenia gravis pterygium myasthenia fetal akinesia deformation sequence

myasthenia gravis, neonatal transient multiple pterygium syndrome lethal type neonatal myasthenia gravis congenital myasthenic syndrome

lymphangioma cystic lymphangioma short stature alveolar rhabdomyosarcoma

myasthenic syndrome oligohydramnios corneal disease rhabdomyosarcoma

scoliosis ptosis neuronitis

2 diseases from the University of Copenhagen DISEASES database for CHRNG:

Cystic lymphangioma Congenital myasthenic syndrome

Human Genome Epidemiology (HuGE) Navigator: CHRNG (6 documents)

Export disorders for CHRNG gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CHRNG gene, integrated from 9 sources (see all 30):
(articles sorted by number of sources associating them with CHRNG)

Utopia: connect your pdf to the dynamic
world of online information

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. (PubMed id 16826520)^{1, 2, 9} Hoffmann K.... Mundlos S. (2006)
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. (PubMed id 16826531)^{1, 2} Morgan N.V....Maher E.R. (2006)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)^{1, 2} Hillier L.W....Wilson R.K. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits. (PubMed id 7688301)^{1, 2} Beeson D.M.W.... Newsom-Davis J. (1993)
Cloning and sequence analysis of human genomic DNA encoding gamma subunit precursor of muscle acetylcholine receptor. (PubMed id 3967651)^{1, 2} Shibahara S.... Numa S. (1985)
CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. (PubMed id 22167768)¹ Vogt J....Maher E.R. (2012)
Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans. (PubMed id 20584212)¹ Saccone N.L....Bierut L.J. (2010)
A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)¹ He C....Hunter D.J. (2010)
Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes. (PubMed id 19259974)¹ Saccone N.L....Bierut L.J. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1146	HGNC: 1967	AceView: CHRNG	Ensembl:ENSG00000196811	euGenes: HUgn1146
ECgene: CHRNG	Kegg: 1146	H-InvDB: CHRNG

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CHRNG	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHRNG

Intellectual Property for CHRNG gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CHRNG gene:
Search GeneIP for patents involving CHRNG

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section

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cholinergic receptor, nicotinic, gamma (muscle)

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cholinergic receptor, nicotinic, gamma (muscle)

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