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CHRNE Gene(Protein Coding)

Cholinergic Receptor Nicotinic Epsilon Subunit

GCID:
GC17M004897
GIFtS:
62
Genes Participants
UDN Logo

Aliases for CHRNE Gene

Aliases for CHRNE Gene

  • Cholinergic Receptor Nicotinic Epsilon Subunit 2 3 5
  • Acetylcholine Receptor, Nicotinic, Epsilon (Muscle) 2 3
  • Cholinergic Receptor, Nicotinic, Epsilon (Muscle) 2 3
  • Cholinergic Receptor, Nicotinic Epsilon 2 3
  • ACHRE 3 4
  • Cholinergic Receptor, Nicotinic, Epsilon Polypeptide 3
  • Cholinergic Receptor, Nicotinic, Epsilon 2
  • Acetylcholine Receptor Subunit Epsilon 3
  • AchR Epsilon Subunit 3
  • CMS2A 3
  • FCCMS 3
  • SCCMS 3
  • CMS1D 3
  • CMS1E 3
  • CMS4A 3
  • CMS4B 3
  • CMS4C 3

External Ids for CHRNE Gene

Previous GeneCards Identifiers for CHRNE Gene

  • GC17M005220
  • GC17M004745
  • GC17M005001
  • GC17M004741
  • GC17M004689
  • GC17M004801

Summaries for CHRNE Gene

Entrez Gene Summary for CHRNE Gene

  • Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009]

GeneCards Summary for CHRNE Gene

CHRNE (Cholinergic Receptor Nicotinic Epsilon Subunit) is a Protein Coding gene. Diseases associated with CHRNE include Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency and Myasthenic Syndrome, Congenital, 4B, Fast-Channel. Among its related pathways are Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Activation of Nicotinic Acetylcholine Receptors. GO annotations related to this gene include extracellular ligand-gated ion channel activity. An important paralog of this gene is CHRNG.

UniProtKB/Swiss-Prot for CHRNE 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 CHRNE Gene

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

Genomics for CHRNE Gene

Products:

  1. Regulatory Element

Regulatory Elements for CHRNE Gene

Enhancers for CHRNE Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G004856 1.5 Ensembl ENCODE dbSUPER 52.1 +44.4 44353 5.3 FOXA2 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 ETS1 TCF12 GATA2 CHRNE C17orf107 ZFP3 MINK1 PLD2 ARRB2 LOC101559451 PELP1 RPS12P29 ENO3
GH17G004847 1.7 FANTOM5 Ensembl ENCODE dbSUPER 39.4 +53.5 53497 4.4 PKNOX1 ZBTB40 RAD21 RFX5 RARA RCOR1 FOS THAP11 CEBPB NR2F2 CHRNE ENO3 PFN1 ZMYND15 ARRB2 C17orf107 PLD2 CXCL16 RPS12P29 PELP1
GH17G004852 1.6 FANTOM5 Ensembl ENCODE dbSUPER 39.2 +49.5 49493 3.3 CTCF NFIB ZIC2 RAD21 ZFHX2 POLR2A ZNF547 EED PRDM10 EGR2 CHRNE MINK1 PLD2 CXCL16 ZMYND15 RNF167 SLC25A11 SPAG7 ENO3 PFN1
GH17G004832 1.7 FANTOM5 ENCODE dbSUPER 34.9 +68.5 68512 4.2 HDGF FOXA2 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 CHRNE LOC100130950 ZNF232 ZNF594 ENSG00000263272 CXCL16 ZMYND15 DERL2 CAMTA2 ENSG00000263164
GH17G004842 1.5 FANTOM5 Ensembl ENCODE dbSUPER 36.9 +58.6 58628 3.4 PKNOX1 HLF CEBPB GATA2 ZNF341 PBX2 EED ETV6 PRDM10 NFE2 CHRNE ARRB2 ZMYND15 CXCL16 C17orf107 PLD2 ENO3 PSMB6 VMO1 GLTPD2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CHRNE on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the CHRNE gene promoter:

Genomic Location for CHRNE Gene

Chromosome:
17
Start:
4,897,769 bp from pter
End:
4,903,128 bp from pter
Size:
5,360 bases
Orientation:
Minus strand

Genomic View for CHRNE Gene

Genes around CHRNE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRNE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRNE Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CHRNE Gene

Proteins for CHRNE Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    Q04844-ACHE_HUMAN
    Recommended name:
    Acetylcholine receptor subunit epsilon
    Protein Accession:
    Q04844
    Secondary Accessions:
    • D3DTK6

    Protein attributes for CHRNE Gene

    Size:
    493 amino acids
    Molecular mass:
    54697 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.

    Three dimensional structures from OCA and Proteopedia for CHRNE Gene

neXtProt entry for CHRNE Gene

Protein Expression for CHRNE Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CHRNE Gene

  • Glycosylation at posLast=8686 and Asn161
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRNE Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CHRNE Gene

Domains & Families for CHRNE Gene

Gene Families for CHRNE Gene

HGNC:
IUPHAR :

Protein Domains for CHRNE Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CHRNE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q04844

UniProtKB/Swiss-Prot:

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

Function for CHRNE Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for CHRNE Gene

GENATLAS Biochemistry:
cholinergic receptor,nicotinic,epsilon polypeptide,muscle
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 CHRNE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0008324 cation transmembrane transporter activity TAS 8872460
GO:0015276 ligand-gated ion channel activity TAS --
GO:0015464 acetylcholine receptor activity TAS 8872460
GO:0022848 contributes_to acetylcholine-gated cation-selective channel activity TAS,IBA --
genes like me logo Genes that share ontologies with CHRNE: view
genes like me logo Genes that share phenotypes with CHRNE: view

Human Phenotype Ontology for CHRNE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHRNE Gene

MGI Knock Outs for CHRNE:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CHRNE Gene

Localization for CHRNE Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRNE Gene

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHRNE gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for CHRNE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8872460
GO:0005892 acetylcholine-gated channel complex TAS 7531341
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CHRNE: view

Pathways & Interactions for CHRNE Gene

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

Gene Ontology (GO) - Biological Process for CHRNE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 8872460
GO:0006811 ion transport IEA --
GO:0006936 muscle contraction TAS 8872460
GO:0007165 signal transduction TAS 8872460
GO:0007271 synaptic transmission, cholinergic TAS 8872460
genes like me logo Genes that share ontologies with CHRNE: view

No data available for SIGNOR curated interactions for CHRNE Gene

Drugs & Compounds for CHRNE Gene

Products:

  1. Drug

(39) Drugs for CHRNE Gene - From: DrugBank and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Galantamine Approved Pharma Target, allosteric modulator 106
Acetylcysteine Approved, Investigational Pharma Antioxidant;mucolytic agent 330
Atropine Approved, Vet_approved Pharma Antagonist MAChRs antagonist 136
Diphemanil Methylsulfate Approved, Vet_approved, Withdrawn Pharma 0
Gallamine Triethiodide Approved Pharma 0

(38) ApexBio Compounds for CHRNE Gene

Compound Action Cas Number
Acetylcholine Chloride Major transmitter at many nervous sites 60-31-1
Acetylcysteine Antioxidant;mucolytic agent 616-91-1
Atropine MAChRs antagonist 5908-99-6
Benzethonium Chloride 121-54-0
Bethanechol chloride Muscarinic receptor agonist 590-63-6
Decamethonium Bromide 541-22-0
Diphemanil Methylsulfate 62-97-5
Flavoxate hydrochloride 3717-88-2
Galanthamine HBr Acetylcholinesterase inhibitor 1953-04-4
Gallamine Triethiodide 65-29-2
Hexamethonium Bromide 55-97-0
Homatropine Bromide Muscarinic AChR antagonist 51-56-9
Homatropine Methylbromide Muscarinic AChR antagonist 80-49-9
Hyoscyamine 101-31-5
Ipratropium Bromide 22254-24-6
LY2119620 886047-22-9
Methscopolamine Muscarinic acetylcholine receptor blocker 155-41-9
Neostigmine Bromide Cholinesterase inhibitor 114-80-7
Nicotine Difartrate 65-31-6
Nitenpyram 150824-47-8
Orphenadrine Citrate Antiparkinsonian and analgesic drug 4682-36-4
Otilonium Bromide 26095-59-0
Oxybutynin 5633-20-5
Oxybutynin chloride 1508-65-2
Pancuronium dibromide AChR antagonist 15500-66-0
Paroxetine HCl Antidepressant agents 78246-49-8
Pentoxyverine Citrate 23142-01-0
Pilocarpine HCl 54-71-7
PNU-120596 α7 nAChR modulator,positive allosteric 501925-31-1
Pregnenolone 145-13-1
Rivastigmine Tartrate 129101-54-8
Rocuronium Bromide TGF-βR I kinase inhibitor 119302-91-9
Succinylcholine Chloride Dihydrate 6101-15-1
Tiotropium Bromide hydrate Muscarinic antagonist 139404-48-1
Tropicamide Antimuscarinic drug 1508-75-4
Trospium chloride Antimuscarinic agent 10405-02-4
Varenicline Tartrate Subtype-selective agonist of α4β2 nicotinic receptors,orally active 375815-87-5
Vecuronium Bromide Nonpolarizing neuromuscular relaxant 50700-72-6
genes like me logo Genes that share compounds with CHRNE: view

Transcripts for CHRNE Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CHRNE Gene

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

Unigene Clusters for CHRNE Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9
SP1: -
SP2:
SP3:

Relevant External Links for CHRNE Gene

GeneLoc Exon Structure for
CHRNE
ECgene alternative splicing isoforms for
CHRNE

Expression for CHRNE Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CHRNE Gene

mRNA expression in normal human tissues for CHRNE Gene
mRNA expression by BioGPS for CHRNE GenemRNA expression by GTEx for CHRNE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Heart - Atrial Appendage (x23.5) and Pituitary (x11.8).

Protein differential expression in normal tissues from HIPED for CHRNE Gene

This gene is overexpressed in Fetal gut (52.0) and Monocytes (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CHRNE Gene



Protein tissue co-expression partners for CHRNE Gene

NURSA nuclear receptor signaling pathways regulating expression of CHRNE Gene:

CHRNE

SOURCE GeneReport for Unigene cluster for CHRNE Gene:

Hs.654535

Evidence on tissue expression from TISSUES for CHRNE Gene

  • Muscle(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHRNE Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • kidney
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CHRNE: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CHRNE Gene

Orthologs for CHRNE Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRNE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CHRNE 34 35
  • 99.35 (n)
cow
(Bos Taurus)
 Mammalia CHRNE 34 35
  • 88.98 (n)
dog
(Canis familiaris)
 Mammalia CHRNE 34 35
  • 87.15 (n)
mouse
(Mus musculus)
 Mammalia Chrne 34 16 35
  • 83.23 (n)
rat
(Rattus norvegicus)
 Mammalia Chrne 34
  • 82.95 (n)
oppossum
(Monodelphis domestica)
 Mammalia CHRNE 35
  • 72 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CHRNE 35
  • 54 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia chrne 34
  • 61.88 (n)
African clawed frog
(Xenopus laevis)
 Amphibia LOC386670 34
zebrafish
(Danio rerio)
 Actinopterygii chrne 35
  • 53 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta nAcRbeta-64B 35
  • 31 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea lev-1 35
  • 29 (a)
 ManyToMany
acr-3 35
  • 26 (a)
 ManyToMany
unc-29 35
  • 26 (a)
 ManyToMany
acr-2 35
  • 25 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 36 (a)
 OneToMany
Species where no ortholog for CHRNE was found in the sources mined by GeneCards:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 CHRNE Gene

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

Paralogs for CHRNE Gene

Paralogs for CHRNE Gene

(15) SIMAP similar genes for CHRNE Gene using alignment to 2 proteins:

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

Variants for CHRNE Gene

Sequence variations from dbSNP and Humsavar for CHRNE Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs121909510 Pathogenic, Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A) [MIM:605809] 4,900,860(-) CCCAG(A/C)CCGTC intron-variant, reference, missense, utr-variant-3-prime
rs121909511 Pathogenic, Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A) [MIM:605809] 4,900,845(-) TGTTC(C/T)TCATT intron-variant, reference, missense, utr-variant-3-prime
rs121909512 Pathogenic, Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B) [MIM:616324] 4,902,010(-) GCCTC(C/T)GGCCA nc-transcript-variant, reference, missense, utr-variant-3-prime
rs121909514 Pathogenic, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CMS4C) [MIM:608931] 4,901,932(-) TTTCC(G/T)GTGGG nc-transcript-variant, reference, missense, utr-variant-3-prime
rs121909515 Pathogenic, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CMS4C) [MIM:608931] 4,899,509(-) CCCAG(A/C/T)GGACG nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
dgv3088n100 CNV gain 25217958
esv3572365 CNV gain 25503493
nsv509647 CNV insertion 20534489
nsv574273 CNV gain 21841781
nsv574275 CNV gain 21841781
nsv833347 CNV loss 17160897
nsv833349 CNV loss 17160897
nsv833350 CNV loss 17160897

Variation tolerance for CHRNE Gene

Residual Variation Intolerance Score: 17.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.63; 45.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHRNE Gene

Human Gene Mutation Database (HGMD)
CHRNE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHRNE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRNE Gene

Disorders for CHRNE Gene

MalaCards: The human disease database

(13) MalaCards diseases for CHRNE Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CHRNE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACHE_HUMAN
  • Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A) [MIM:605809]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS4A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. {ECO:0000269 PubMed:12141316, ECO:0000269 PubMed:27375219, ECO:0000269 PubMed:7531341, ECO:0000269 PubMed:7538206, ECO:0000269 PubMed:8872460}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B) [MIM:616324]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS4B is a fast-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in brief opening and activity of the channel, with a rapid decay in endplate current, failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential. {ECO:0000269 PubMed:10962020, ECO:0000269 PubMed:22592360, ECO:0000269 PubMed:8755487}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CMS4C) [MIM:608931]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS4C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. {ECO:0000269 PubMed:9158150}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=The muscle AChR is the major target antigen in the autoimmune disease myasthenia gravis. Myasthenia gravis is characterized by sporadic muscular fatigability and weakness, occurring chiefly in muscles innervated by cranial nerves, and characteristically improved by cholinesterase-inhibiting drugs.

Relevant External Links for CHRNE

Genetic Association Database (GAD)
CHRNE
Human Genome Epidemiology (HuGE) Navigator
CHRNE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHRNE
genes like me logo Genes that share disorders with CHRNE: view

No data available for Genatlas for CHRNE Gene

Publications for CHRNE Gene

  1. 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) 2 3 4 64
  2. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 46 64
  3. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) GratacA^s M. … Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 46 64
  4. Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes. (PMID: 19259974) Saccone N.L. … Bierut L.J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 46 64
  5. The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa. (PMID: 19064877) Richard P. … HantaA^ D. (Neurology 2008) 3 22 64

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