Human Gene CHRNG (uc002vsx.1) Description and Page Index
  Description: Homo sapiens cholinergic receptor, nicotinic, gamma (muscle) (CHRNG), mRNA.
RefSeq Summary (NM_005199): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA2162946 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000651502.1/ ENSP00000498757.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr2:233,404,437-233,411,113 Size: 6,677 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr2:233,404,458-233,410,426 Size: 5,969 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr2:233,404,437-233,411,113)mRNA (may differ from genome)Protein (517 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Acetylcholine receptor subunit gamma; Flags: Precursor;
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.
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.
DISEASE: Defects in CHRNG are a cause of multiple pterygium syndrome lethal type (MUPSL) [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.
DISEASE: Defects in CHRNG are a cause of multiple pterygium syndrome Escobar variant (MUPSE) [MIM:265000]; also known as nonlethal type multiple pterygium syndrome. Escobar syndrome is a 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. is a.
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.
SEQUENCE CAUTION: Sequence=AAY24103.1; Type=Erroneous gene model prediction; Sequence=CAA25861.1; Type=Erroneous gene model prediction;
WEB RESOURCE: Name=GeneReviews; URL="";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CHRNG
CDC HuGE Published Literature: CHRNG

-  MalaCards Disease Associations
  MalaCards Gene Search: CHRNG
Diseases sorted by gene-association score: escobar syndrome* (1594), multiple pterygium syndrome, lethal type* (1117), chrng-related disorders* (100), myasthenia gravis (21), neonatal myasthenia gravis (18), congenital contractures (11), fetal akinesia deformation sequence (8), oligohydramnios (8), degenerative myopia (7), microphthalmia, isolated 1 (7), cystic lymphangioma (7), refractive error (2), distal arthrogryposis (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.70 RPKM in Muscle - Skeletal
Total median expression: 7.51 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.4021-0.114 Picture PostScript Text
3' UTR -240.44687-0.350 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006202 - Neur_chan_lig-bd
IPR006201 - Neur_channel
IPR006029 - Neurotrans-gated_channel_TM
IPR018000 - Neurotransmitter_ion_chnl_CS
IPR002394 - Nicotinic_acetylcholine_rcpt

Pfam Domains:
PF02931 - Neurotransmitter-gated ion-channel ligand binding domain
PF02932 - Neurotransmitter-gated ion-channel transmembrane region

SCOP Domains:
63712 - Nicotinic receptor ligand binding domain-like
90112 - Neurotransmitter-gated ion-channel transmembrane pore

ModBase Predicted Comparative 3D Structure on P07510
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004888 transmembrane signaling receptor activity
GO:0005216 ion channel activity
GO:0005230 extracellular ligand-gated ion channel activity
GO:0005515 protein binding
GO:0015267 channel activity
GO:0015276 ligand-gated ion channel activity
GO:0015464 acetylcholine receptor activity
GO:0022848 acetylcholine-gated cation-selective channel activity
GO:0042166 acetylcholine binding

Biological Process:
GO:0006811 ion transport
GO:0006936 muscle contraction
GO:0007165 signal transduction
GO:0007271 synaptic transmission, cholinergic
GO:0007274 neuromuscular synaptic transmission
GO:0034220 ion transmembrane transport
GO:0035094 response to nicotine
GO:0060078 regulation of postsynaptic membrane potential
GO:0060079 excitatory postsynaptic potential
GO:0098655 cation 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:0045202 synapse
GO:0045211 postsynaptic membrane

-  Descriptions from all associated GenBank mRNAs
  AK309340 - Homo sapiens cDNA, FLJ99381.
AK125362 - Homo sapiens cDNA FLJ43372 fis, clone NTONG2006324, highly similar to Acetylcholine receptor protein subunit gamma precursor.
KJ901340 - Synthetic construct Homo sapiens clone ccsbBroadEn_10734 CHRNG gene, encodes complete protein.
KR711878 - Synthetic construct Homo sapiens clone CCSBHm_00031615 CHRNG (CHRNG) mRNA, encodes complete protein.
KR711879 - Synthetic construct Homo sapiens clone CCSBHm_00031616 CHRNG (CHRNG) mRNA, encodes complete protein.
KR711880 - Synthetic construct Homo sapiens clone CCSBHm_00031617 CHRNG (CHRNG) mRNA, encodes complete protein.
BC111802 - Homo sapiens cholinergic receptor, nicotinic, gamma, mRNA (cDNA clone MGC:133376 IMAGE:40069605), complete cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04080 - Neuroactive ligand-receptor interaction

BioCarta from NCI Cancer Genome Anatomy Project
h_achPathway - Role of nicotinic acetylcholine receptors in the regulation of apoptosis

Reactome (by CSHL, EBI, and GO)

Protein P07510 (Reactome details) participates in the following event(s):

R-HSA-622325 Activation of highly sodium permeable nicotinic acetylcholine receptors
R-HSA-629588 Binding of acetylcholine to highly sodium permeable acetylcholine receptors
R-HSA-629587 Highly sodium permeable acetylcholine nicotinic receptors
R-HSA-622323 Presynaptic nicotinic acetylcholine receptors
R-HSA-622327 Postsynaptic nicotinic acetylcholine receptors
R-HSA-629602 Activation of Nicotinic Acetylcholine Receptors
R-HSA-181431 Acetylcholine binding and downstream events
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: ACHG_HUMAN, ACHRG, B3KWM8, NM_005199, NP_005190, P07510, Q53RG2
UCSC ID: uc002vsx.1
RefSeq Accession: NM_005199
Protein: P07510 (aka ACHG_HUMAN)
CCDS: CCDS33400.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_005199.4
exon count: 12CDS single in 3' UTR: no RNA size: 2187
ORF size: 1554CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3164.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.