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Aliases for CHRNG Gene

Aliases for CHRNG Gene

  • Cholinergic Receptor, Nicotinic, Gamma (Muscle) 2 3
  • ACHRG 3 4 6
  • Cholinergic Receptor, Nicotinic, Gamma Polypeptide 3
  • Acetylcholine Receptor, Nicotinic, Gamma (Muscle) 3
  • Acetylcholine Receptor, Muscle, Gamma Subunit 3
  • Cholinergic Receptor, Nicotinic, Gamma 2
  • Acetylcholine Receptor Subunit Gamma 3
  • Acetylcholine Receptor 2
  • Gamma (Muscle) 2
  • Nicotinic 2

External Ids for CHRNG Gene

Previous Symbols for CHRNG Gene

  • ACHRG

Summaries for CHRNG Gene

Entrez Gene Summary for CHRNG 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 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]

GeneCards Summary for CHRNG Gene

CHRNG (Cholinergic Receptor, Nicotinic, Gamma (Muscle)) is a Protein Coding gene. Diseases associated with CHRNG include neonatal myasthenia gravis and escobar syndrome. Among its related pathways are CREB Pathway and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include acetylcholine-activated cation-selective channel activity and channel activity. An important paralog of this gene is CHRNA3.

UniProtKB/Swiss-Prot for CHRNG Gene

  • 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

Gene Wiki entry for CHRNG Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRNG Gene

Genomics for CHRNG Gene

Genomic Location for CHRNG Gene

Start:
232,539,727 bp from pter
End:
232,546,403 bp from pter
Size:
6,677 bases
Orientation:
Plus strand

Genomic View for CHRNG Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHRNG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRNG Gene

Regulatory Elements for CHRNG Gene

Proteins for CHRNG Gene

  • Protein details for CHRNG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07510-ACHG_HUMAN
    Recommended name:
    Acetylcholine receptor subunit gamma
    Protein Accession:
    P07510
    Secondary Accessions:
    • B3KWM8
    • Q14DU4
    • Q53RG2

    Protein attributes for CHRNG Gene

    Size:
    517 amino acids
    Molecular mass:
    57883 Da
    Quaternary structure:
    • Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains
    SequenceCaution:
    • Sequence=AAY24103.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAA25861.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CHRNG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHRNG Gene

Proteomics data for CHRNG Gene at MOPED

Post-translational modifications for CHRNG Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn52 and Asn163

Other Protein References for CHRNG Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CHRNG Gene

Domains for CHRNG Gene

Gene Families for CHRNG Gene

HGNC:
  • CHRN :Ligand-gated ion channels / Acetylcholine receptors, nicotinic
  • CHR :Cholinergic receptors
IUPHAR :

UniProtKB/Swiss-Prot:

ACHG_HUMAN
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Gamma/CHRNG sub-subfamily.:
    • P07510
genes like me logo Genes that share domains with CHRNG: view

Function for CHRNG Gene

Molecular function for CHRNG Gene

GENATLAS Biochemistry: cholinergic receptor,nicotinic,gamma polypeptide
UniProtKB/Swiss-Prot 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

Gene Ontology (GO) - Molecular Function for CHRNG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004889 acetylcholine-activated cation-selective channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity --
GO:0005515 protein binding IPI 25416956
GO:0015267 channel activity TAS 3967651
GO:0015464 acetylcholine receptor activity TAS 3967651
genes like me logo Genes that share ontologies with CHRNG: view
genes like me logo Genes that share phenotypes with CHRNG: view

Animal Models for CHRNG Gene

MGI Knock Outs for CHRNG:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CHRNG Gene

Localization for CHRNG Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRNG Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHRNG Gene COMPARTMENTS Subcellular localization image for CHRNG gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CHRNG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 3967651
GO:0005892 acetylcholine-gated channel complex IEA --
GO:0016020 membrane --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with CHRNG: view

Pathways for CHRNG Gene

genes like me logo Genes that share pathways with CHRNG: view

Gene Ontology (GO) - Biological Process for CHRNG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 3967651
GO:0006811 ion transport --
GO:0006812 cation transport --
GO:0006936 muscle contraction TAS 8040310
GO:0007165 signal transduction TAS 3967651
genes like me logo Genes that share ontologies with CHRNG: view

Compounds for CHRNG Gene

(1) Drugbank Compounds for CHRNG Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Galantamine
  • (-)-Galanthamine
357-70-0 target allosteric modulator
genes like me logo Genes that share compounds with CHRNG: view

Transcripts for CHRNG Gene

mRNA/cDNA for CHRNG Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CHRNG Gene

Cholinergic receptor, nicotinic, gamma (muscle):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHRNG Gene

No ASD Table

Relevant External Links for CHRNG Gene

GeneLoc Exon Structure for
CHRNG
ECgene alternative splicing isoforms for
CHRNG

Expression for CHRNG Gene

mRNA expression in normal human tissues for CHRNG Gene

mRNA differential expression in normal tissues according to GTEx for CHRNG Gene

This gene is overexpressed in Muscle - Skeletal (50.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CHRNG Gene

SOURCE GeneReport for Unigene cluster for CHRNG Gene Hs.248101

genes like me logo Genes that share expressions with CHRNG: view

Orthologs for CHRNG Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRNG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHRNG 36
  • 99.42 (n)
  • 99.23 (a)
CHRNG 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHRNG 36
  • 88.91 (n)
  • 91.88 (a)
CHRNG 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHRNG 36
  • 89.04 (n)
  • 90.52 (a)
CHRNG 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chrng 36
  • 87.49 (n)
  • 90.52 (a)
Chrng 16
Chrng 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHRNG 37
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHRNG 37
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chrng 36
  • 86.72 (n)
  • 90.14 (a)
chicken
(Gallus gallus)
Aves CHRNG 36
  • 71.77 (n)
  • 67.74 (a)
CHRNG 37
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHRNG 37
  • 64 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC386669 36
tropical clawed frog
(Silurana tropicalis)
Amphibia chrng 36
  • 63.38 (n)
  • 62.98 (a)
zebrafish
(Danio rerio)
Actinopterygii chrng 37
  • 53 (a)
OneToOne
LOC100536659 36
  • 62.12 (n)
  • 58.25 (a)
wufc54e06 36
fruit fly
(Drosophila melanogaster)
Insecta nAcRbeta-64B 37
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea acr-2 37
  • 27 (a)
ManyToMany
acr-3 37
  • 30 (a)
ManyToMany
lev-1 37
  • 30 (a)
ManyToMany
unc-29 37
  • 29 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 36 (a)
OneToMany
Species with no ortholog for CHRNG:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHRNG Gene

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

Paralogs for CHRNG Gene

Selected SIMAP similar genes for CHRNG Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CHRNG: view

Variants for CHRNG Gene

Sequence variations from dbSNP and Humsavar for CHRNG Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs729941 -- 232,545,388(-) CATGG(C/G)CCCCT intron-variant
rs744159 -- 232,545,333(-) CTTTC(C/T)TTTTT intron-variant
rs1190434 -- 232,542,081(+) AGACA(C/T)GGGGG intron-variant
rs1656388 -- 232,542,094(+) CTCCT(C/G)AGGTA intron-variant
rs1656389 -- 232,542,095(+) TCCTG(A/G)GGTAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHRNG Gene

Variant ID Type Subtype PubMed ID
nsv821918 CNV Gain 20364138
nsv875977 CNV Loss 21882294
nsv875998 CNV Loss 21882294
nsv876000 CNV Gain 21882294
dgv4454n71 CNV Loss 21882294
nsv3212 CNV Loss 18451855

Relevant External Links for CHRNG Gene

HapMap Linkage Disequilibrium report
CHRNG
Human Gene Mutation Database (HGMD)
CHRNG
Locus Specific Mutation Databases (LSDB)
CHRNG

Disorders for CHRNG Gene

(2) OMIM Diseases for CHRNG Gene (100730)

UniProtKB/Swiss-Prot

ACHG_HUMAN
  • 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. {ECO:0000269 PubMed:16826520, ECO:0000269 PubMed:16826531}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:16826520, ECO:0000269 PubMed:16826531}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CHRNG Gene

Relevant External Links for CHRNG

Genetic Association Database (GAD)
CHRNG
Human Genome Epidemiology (HuGE) Navigator
CHRNG
genes like me logo Genes that share disorders with CHRNG: view

Publications for CHRNG Gene

  1. Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. (PMID: 16826520) Hoffmann K. … Mundlos S. (Am. J. Hum. Genet. 2006) 3 4 23
  2. Cloning and sequence analysis of human genomic DNA encoding gamma subunit precursor of muscle acetylcholine receptor. (PMID: 3967651) Shibahara S. … Numa S. (Eur. J. Biochem. 1985) 3 4
  3. Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits. (PMID: 7688301) Beeson D.M.W. … Newsom-Davis J. (Eur. J. Biochem. 1993) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4

Products for CHRNG Gene

Sources for CHRNG Gene

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