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
External Ids for CHRNE Gene
- HGNC: 1966
- Entrez Gene: 1145
- Ensembl: ENSG00000108556
- OMIM: 100725
- UniProtKB: Q04844
Previous GeneCards Identifiers for CHRNE Gene
- GC17M005220
- GC17M004745
- GC17M005001
- GC17M004741
- GC17M004689
- GC17M004801
Summaries 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 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.
Additional gene information for CHRNE Gene
- Monarch Initiative
- Search for CHRNE at DataMed
- Search for CHRNE at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRNE Gene
Genomics for CHRNE Gene
GeneHancer (GH) Regulatory Elements for CHRNE Gene
Promoters and enhancers for CHRNE Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around CHRNE on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CHRNE gene promoter:
-
- c-Jun
- ATF-2
- MAZR
- MZF-1
- NF-kappaB1
- NF-kappaB
- RelA
- RREB-1
- Pax-3
- RORalpha1
Regulatory Element Products
Genomic Locations for CHRNE Gene
Genomic Locations for CHRNE Gene
- chr17:4,897,769-4,903,128
- (GRCh38/hg38)
- Size:
- 5,360 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:
-
- 17p13.2 by Entrez Gene
- 17p13.2 by HGNC
- 17p13.2 by Ensembl
CHRNE Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CHRNE Gene
Proteins for CHRNE Gene
-
Protein details for CHRNE Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q04844-ACHE_HUMAN
- Recommended name:
- Acetylcholine receptor subunit epsilon
- Protein Accession:
- Q04844
- 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).
Protein Expression for CHRNE Gene
Post-translational modifications for CHRNE Gene
Other Protein References for CHRNE Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CHRNE
- Novus Biologicals Antibodies for CHRNE
- Invitrogen Antibodies for CHRNE
- GeneTex CHRNE Antibody for CHRNE
-
Boster Bio Antibodies for CHRNE
-
Santa Cruz Biotechnology (SCBT) Antibodies for CHRNE
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CHRNE
- Origene Custom Protein Services for CHRNE
- Novus Biologicals proteins for CHRNE
- antibodies-online: Search results for 8 available CHRNE Proteins ranked by validation data
- Compare Top CHRNE Proteins
-
Quality Products:
- Search GeneTex for Proteins for CHRNE
Assay Products
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
Suggested Antigen Peptide Sequences for CHRNE Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q04844UniProtKB/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.
Function for CHRNE Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005216 | ion channel activity | IEA | -- |
| GO:0005230 | CONTRIBUTES_TO extracellular ligand-gated ion channel activity | IEA,IBA | -- |
| GO:0008324 | cation transmembrane transporter activity | TAS | 8872460 |
| GO:0015276 | ligand-gated ion channel activity | TAS | -- |
| GO:0015464 | acetylcholine receptor activity | TAS | 8872460 |
Phenotypes for CHRNE Gene
- MGI mutant phenotypes for CHRNE:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for CHRNE:
Animal Models for CHRNE Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CHRNE
-
CRISPR Products
-
OriGene CRISPR knockouts for CHRNE
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CHRNE
- genomics-online: gRNA clones - Search results for 80 available CHRNE gene related products
- Overview of 80 available CHRNE gene related products
- Applied Biological Materials CRISPR for CHRNE
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHRNE
- GenScript: Design CRISPR guide RNA sequences for CHRNE
miRNA for CHRNE Gene
- miRTarBase miRNAs that target CHRNE
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHRNE
- Browse OriGene Inhibitory RNA Products For CHRNE
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHRNE
- genomics-online: shRNA clones - Search results for 80 available CHRNE gene related products
- Overview of 80 available CHRNE gene related products
Clone Products
- Sino Biological Human cDNA Clone for CHRNE
- VectorBuilder custom plasmid, inducible vectors for CHRNE
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CHRNE
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CHRNE
- Applied Biological Materials Clones for CHRNE
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CHRNE
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CHRNE Gene
Pathways & Interactions for CHRNE Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Postsynaptic nicotinic acetylcholine receptors | ||
| 2 | Transmission across Chemical Synapses |
.62
|
|
| 3 | Peptide ligand-binding receptors | ||
| 4 | Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics | ||
| 5 | Nanog in Mammalian ESC Pluripotency |
.48
|
|
Pathways by source for CHRNE Gene
1 BioSystems pathway for CHRNE Gene
8 Reactome pathways for CHRNE Gene
1 PharmGKB pathway for CHRNE Gene
1 KEGG pathway for CHRNE Gene
2 Qiagen pathways for CHRNE Gene
Interacting Proteins for CHRNE Gene
GPS-Prot Interaction Network for CHRNE
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006811 | ion transport | IEA | -- |
| GO:0006936 | muscle contraction | TAS | 8872460 |
| GO:0007165 | signal transduction | TAS | 8872460 |
| GO:0007268 | chemical synaptic transmission | IBA | -- |
| GO:0007271 | synaptic transmission, cholinergic | TAS | 8872460 |
No data available for SIGNOR curated interactions for CHRNE Gene
Drugs & Compounds for CHRNE Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Galantamine | Approved | Pharma | Target, allosteric modulator | Acetylcholinesterase inhibitor | 106 | |
| Acetylcysteine | Approved, Investigational | Pharma | Antioxidant;mucolytic agent | 352 | ||
| Atropine | Approved, Vet_approved | Pharma | Antagonist | MAChRs antagonist | 153 | |
| 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 |
Transcripts for CHRNE Gene
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 :
-
- ENST00000293780 2455 bps (uc002fzk.2)
- ENST00000572438 1847 bps (uc059zxd.1)
- ENST00000575637 557 bps (uc059zxe.1)
Unigene Clusters for CHRNE Gene
CRISPR Products
-
OriGene CRISPR knockouts for CHRNE
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CHRNE
- genomics-online: gRNA clones - Search results for 80 available CHRNE gene related products
- Overview of 80 available CHRNE gene related products
- Applied Biological Materials CRISPR for CHRNE
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHRNE
- GenScript: Design CRISPR guide RNA sequences for CHRNE
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHRNE
- Browse OriGene Inhibitory RNA Products For CHRNE
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHRNE
- genomics-online: shRNA clones - Search results for 80 available CHRNE gene related products
- Overview of 80 available CHRNE gene related products
Clone Products
- Sino Biological Human cDNA Clone for CHRNE
- VectorBuilder custom plasmid, inducible vectors for CHRNE
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CHRNE
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CHRNE
- Applied Biological Materials Clones for CHRNE
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||
| SP2: | |||||||||||||||||||||
| SP3: |
Expression for CHRNE Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Skeletal Muscle (Muscoskeletal System)
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).
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
NURSA nuclear receptor signaling pathways regulating expression of CHRNE Gene:
CHRNESOURCE GeneReport for Unigene cluster for CHRNE Gene:
Hs.654535Evidence 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
Primer Products
-
OriGene qPCR primer pairs for CHRNE
- genomics-online: primer clones - Search results for 80 available CHRNE gene related products
- Overview of 80 available CHRNE gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CHRNE 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CHRNE 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CHRNE 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Chrne 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Chrne 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CHRNE 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CHRNE 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | chrne 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC386670 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | chrne 34 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | nAcRbeta-64B 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | lev-1 34 |
|
ManyToMany | |
| acr-3 34 |
|
ManyToMany | |||
| unc-29 34 |
|
ManyToMany | |||
| acr-2 34 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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
Variants for CHRNE Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1053751 | benign, Congenital Myasthenic Syndrome, Dominant/Recessive | 4,897,991(-) | C/T | 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant | |
| rs1053754 | benign, Congenital Myasthenic Syndrome, Dominant/Recessive | 4,897,993(-) | A/C/T | 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant | |
| rs113366718 | uncertain-significance, Congenital Myasthenic Syndrome, Dominant/Recessive | 4,897,931(-) | A/C | 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant | |
| rs114454383 | likely-benign, benign, not specified, Congenital Myasthenic Syndrome, Dominant/Recessive, Myasthenic syndrome, congenital, 4a, slow-channel | 4,899,483(-) | G/A/C | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
| rs116802199 | likely-benign, Congenital Myasthenic Syndrome, Dominant/Recessive | 4,897,806(-) | A/C | 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRNE Gene
Disorders for CHRNE Gene
(11) MalaCards diseases for CHRNE Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myasthenic syndrome, congenital, 4a, slow-channel |
|
|
| myasthenic syndrome, congenital, 4b, fast-channel |
|
|
| myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency |
|
|
| congenital myasthenic syndrome associated with acetylcholine receptor deficiency |
|
|
| congenital myasthenic syndrome |
|
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)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for CHRNE Gene
Publications for CHRNE Gene
- 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 58
- 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 58
- 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 44 58
- 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 44 58
- 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 44 58
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