CHRNE Gene (Protein Coding)

Cholinergic Receptor Nicotinic Epsilon Subunit

GC17M004897
GIFtS:
45
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 ... See more...

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
  • Acetylcholine Receptor Subunit Epsilon 3 4
  • ACHRE 3 4
  • Cholinergic Receptor, Nicotinic, Epsilon Polypeptide 3
  • Cholinergic Receptor, Nicotinic, Epsilon 2
  • AchR Epsilon Subunit 3
  • CMS1D 3
  • CMS1E 3
  • CMS2A 3
  • CMS4A 3
  • CMS4B 3
  • CMS4C 3
  • FCCMS 3
  • SCCMS 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, 4A, Slow-Channel and Myasthenic Syndrome, Congenital, 4B, Fast-Channel. Among its related pathways are Transmission across Chemical Synapses and Postsynaptic nicotinic acetylcholine receptors. Gene Ontology (GO) annotations related to this gene include extracellular ligand-gated ion channel activity. An important paralog of this gene is CHRNG.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for CHRNE Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHRNE Gene

Genomics for CHRNE Gene

GeneHancer (GH) Regulatory Elements for CHRNE Gene

Promoters and enhancers for CHRNE Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH17J004908 Promoter/Enhancer 1.7 EPDnew FANTOM5 ENCODE CraniofacialAtlas 534.4 +25.1 25128 2.6 FOXK2 ZNF217 CTCF POLR2G PHB2 ZIC2 POLR2A ZBTB10 FOXA1 REST CHRNE ENSG00000262227 ENO3 MIS12 ENSG00000235085 ZNF232 ZZEF1 ENSG00000263220 ZFP3 C17orf107
GH17J004898 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 539.7 +33.1 33125 6 ZBTB40 ZNF217 CTCF CLOCK GABPA REST MYC RAD21 TRIM22 ATF2 CHRNE C17orf107 GP1BA ENSG00000262165 ZFP3 ENSG00000234327 lnc-CHRNE-3 lnc-SLC25A11-1
GH17J004934 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 500.7 +0.1 137 0.6 CTCF POLR2G POLR2A GABPA REST ZBTB25 CTBP1 ZNF341 NFIC CBFB CHRNE lnc-CHRNE-3 GP1BA
GH17J004911 Promoter 0.3 EPDnew 500.4 +22.9 22879 0.1 CHRNE C17orf107 lnc-CHRNE-3 lnc-SLC25A11-1
GH17J004832 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 34.9 +99.9 99873 4.3 HNRNPK EP300 SIN3A NRF1 TCF12 MYC POLR2G USF1 ZIC2 POLR2A MINK1 CHRNE ZNF232 ENSG00000262227 ZZEF1 ENSG00000261879 ANKFY1 ZMYND15 CXCL16 DERL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHRNE on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHRNE

Top Transcription factor binding sites by QIAGEN in the CHRNE gene promoter:
  • ATF-2
  • c-Jun
  • MAZR
  • MZF-1
  • NF-kappaB
  • NF-kappaB1
  • Pax-3
  • RelA
  • RORalpha1
  • RREB-1

Genomic Locations for CHRNE Gene

Genomic Locations for CHRNE Gene
chr17:4,897,769-4,934,438
(GRCh38/hg38)
Size:
36,670 bases
Orientation:
Minus strand
chr17:4,801,064-4,806,369
(GRCh37/hg19)
Size:
5,306 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. The muscle heteropentamer composed of alpha-1, beta-1, delta, epsilon subunits interacts with the alpha-conotoxin ImII (PubMed:15609996).

    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 Asn86 and Asn161
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRNE Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Boster Bio Antibodies for CHRNE

No data available for DME Specific Peptides for CHRNE Gene

Domains & Families for CHRNE Gene

Gene Families for CHRNE Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for CHRNE Gene

Blocks:
  • Nicotinic acetylcholine receptor signature
  • Neurotransmitter-gated ion-channel
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CHRNE Gene

GenScript: Design optimal peptide antigens:
  • Acetylcholine receptor subunit epsilon (ACHE_HUMAN)
  • AchR epsilon subunit (Q8N731_HUMAN)

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

Molecular function for CHRNE Gene

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.
GENATLAS Biochemistry:
cholinergic receptor,nicotinic,epsilon polypeptide,muscle

Phenotypes From GWAS Catalog for CHRNE Gene

Gene Ontology (GO) - Molecular Function for CHRNE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005230 contributes_to extracellular ligand-gated ion channel activity IBA 21873635
GO:0008324 cation transmembrane transporter activity TAS 8872460
GO:0015464 contributes_to acetylcholine receptor activity TAS,IBA 21873635
GO:0022848 acetylcholine-gated cation-selective channel activity IEA,TAS --
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

Clone 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
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

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 IBA,TAS 21873635
GO:0005892 acetylcholine-gated channel complex IBA,TAS 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CHRNE: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CHRNE Gene

Pathways & Interactions for CHRNE Gene

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

Pathways by source for CHRNE Gene

1 BioSystems pathway for CHRNE Gene
1 KEGG pathway for CHRNE Gene
2 Qiagen pathways for CHRNE Gene
  • eNOS Signaling
  • Intracellular Calcium Signaling

Interacting Proteins for CHRNE Gene

Selected Interacting proteins: Q04844-ACHE_HUMAN for CHRNE Gene via IID

GPS-Prot Interaction Network for CHRNE
;

Gene Ontology (GO) - Biological Process for CHRNE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006936 muscle contraction TAS 8872460
GO:0007165 signal transduction IBA,TAS 21873635
GO:0007268 chemical synaptic transmission IBA 21873635
GO:0007271 synaptic transmission, cholinergic IBA,TAS 21873635
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 Acetylcholinesterase inhibitor 108
Acetylcysteine Approved, Investigational Pharma Antioxidant;mucolytic agent 409
Atropine Approved, Vet_approved Pharma Antagonist MAChRs antagonist 197
Gallamine Triethiodide Approved Pharma 0
Homatropine Methylbromide Approved Pharma Muscarinic AChR antagonist 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

Drug Products

Transcripts for CHRNE Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CHRNE Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for CHRNE Gene

Products:

  1. Primer
  2. Gene Expression Assay

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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

No data available for Protein tissue co-expression partners and 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 31 30
  • 99.35 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia CHRNE 31 30
  • 88.98 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CHRNE 31 30
  • 87.15 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Chrne 17 31 30
  • 83.23 (n)
rat
(Rattus norvegicus)
 Mammalia Chrne 30
  • 82.95 (n)
oppossum
(Monodelphis domestica)
 Mammalia CHRNE 31
  • 72 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CHRNE 31
  • 54 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia chrne 30
  • 61.88 (n)
African clawed frog
(Xenopus laevis)
 Amphibia LOC386670 30
zebrafish
(Danio rerio)
 Actinopterygii chrne 31
  • 53 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta nAcRbeta-64B 31
  • 31 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea lev-1 31
  • 29 (a)
 ManyToMany
acr-3 31
  • 26 (a)
 ManyToMany
unc-29 31
  • 26 (a)
 ManyToMany
acr-2 31
  • 25 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CHRNE: view image

Paralogs for CHRNE Gene

Paralogs for CHRNE Gene

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

  • ACHE_HUMAN
  • Q8N731_HUMAN
genes like me logo Genes that share paralogs with CHRNE: view

Variants for CHRNE Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHRNE Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
243033 Pathogenic: Congenital myasthenic syndrome 4,902,680(-) CCCGCACTGGCCGGCT GENIC_UPSTREAM_TRANSCRIPT_VARIANT
638347 Uncertain Significance: not specified 4,899,165(-) C/T INTRON_VARIANT
641378 Uncertain Significance: Myasthenic syndrome, congenital, 4a, slow-channel 4,899,582(-) C/A MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
641751 Uncertain Significance: Myasthenic syndrome, congenital, 4a, slow-channel 4,899,339(-) G/A MISSENSE_VARIANT
641946 Likely Pathogenic: Myasthenic syndrome, congenital, 4a, slow-channel 4,899,508(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CHRNE Gene

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)

Additional Variant Information for CHRNE Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CHRNE Gene

MalaCards: The human disease database

(15) MalaCards diseases for CHRNE Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, 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
  • 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.
  • 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.

Additional Disease Information for CHRNE

Genetic Association Database
(GAD)
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(HuGE)
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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 … Newsom-Davis J (European journal of biochemistry 1993) 2 3 4 54
  2. Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating. (PMID: 27375219) Shen XM … Engel AG (Human mutation 2016) 3 4 54
  3. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 41 54
  4. 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) Gratacòs M … Psychiatric Genetics Network Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 41 54
  5. Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes. (PMID: 19259974) Saccone NL … Bierut LJ (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 41 54

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