Details for: CHRNE

Gene ID: 1145

Symbol: CHRNE

Ensembl ID: ENSG00000108556

Description: cholinergic receptor nicotinic epsilon subunit

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 31.6950
    Cell Significance Index: -4.9300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 20.3238
    Cell Significance Index: -5.1600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 4.1688
    Cell Significance Index: -5.1400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 1.3102
    Cell Significance Index: -5.1700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.6622
    Cell Significance Index: 17.7500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4635
    Cell Significance Index: 88.2200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3542
    Cell Significance Index: 35.0400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3190
    Cell Significance Index: 288.0000
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: 0.2369
    Cell Significance Index: 2.3800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1887
    Cell Significance Index: 2.2500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1760
    Cell Significance Index: 5.0700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1718
    Cell Significance Index: 10.8300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1673
    Cell Significance Index: 7.4000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.1568
    Cell Significance Index: 2.1400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1414
    Cell Significance Index: 22.9900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1223
    Cell Significance Index: 4.6300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1141
    Cell Significance Index: 12.4200
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.1141
    Cell Significance Index: 3.6100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.1133
    Cell Significance Index: 16.4700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1025
    Cell Significance Index: 4.6500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0941
    Cell Significance Index: 2.0600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0830
    Cell Significance Index: 6.3700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0790
    Cell Significance Index: 28.3500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0529
    Cell Significance Index: 1.1300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0466
    Cell Significance Index: 3.2200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0447
    Cell Significance Index: 1.5700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0316
    Cell Significance Index: 59.5900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0261
    Cell Significance Index: 3.3400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0252
    Cell Significance Index: 1.1800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0241
    Cell Significance Index: 4.7900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0228
    Cell Significance Index: 10.1000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0209
    Cell Significance Index: 32.2300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0208
    Cell Significance Index: 4.1700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0199
    Cell Significance Index: 1.0100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0191
    Cell Significance Index: 2.6200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0128
    Cell Significance Index: 8.8600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0126
    Cell Significance Index: 2.2800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0115
    Cell Significance Index: 0.2500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0106
    Cell Significance Index: 14.4700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0096
    Cell Significance Index: 17.7700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0066
    Cell Significance Index: 4.1900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0048
    Cell Significance Index: 0.6200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0045
    Cell Significance Index: 0.7700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0044
    Cell Significance Index: 0.5400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.0043
    Cell Significance Index: 0.2700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0001
    Cell Significance Index: -0.0100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0006
    Cell Significance Index: -0.0400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0014
    Cell Significance Index: -0.0900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0035
    Cell Significance Index: -1.9000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0052
    Cell Significance Index: -2.3600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0057
    Cell Significance Index: -0.3500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0063
    Cell Significance Index: -0.1800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0065
    Cell Significance Index: -4.7300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0069
    Cell Significance Index: -5.1900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0071
    Cell Significance Index: -5.2400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0094
    Cell Significance Index: -5.3100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0115
    Cell Significance Index: -0.5400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0132
    Cell Significance Index: -1.5400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0142
    Cell Significance Index: -4.1000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0169
    Cell Significance Index: -0.4500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0171
    Cell Significance Index: -0.9600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0233
    Cell Significance Index: -0.6400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0267
    Cell Significance Index: -2.7300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0277
    Cell Significance Index: -5.8400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0288
    Cell Significance Index: -1.7300
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.0294
    Cell Significance Index: -0.3700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0368
    Cell Significance Index: -1.9100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0402
    Cell Significance Index: -0.5800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0403
    Cell Significance Index: -2.8500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0410
    Cell Significance Index: -4.2700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0418
    Cell Significance Index: -4.7900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0440
    Cell Significance Index: -5.1900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0500
    Cell Significance Index: -1.2500
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0517
    Cell Significance Index: -2.2500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0526
    Cell Significance Index: -2.7600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0576
    Cell Significance Index: -1.5400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0632
    Cell Significance Index: -5.0100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0637
    Cell Significance Index: -2.0400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0656
    Cell Significance Index: -1.6900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0692
    Cell Significance Index: -1.9400
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0712
    Cell Significance Index: -0.9600
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0742
    Cell Significance Index: -0.6100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0852
    Cell Significance Index: -4.4400
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.0931
    Cell Significance Index: -1.6500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1033
    Cell Significance Index: -2.9600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1197
    Cell Significance Index: -4.1600
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.1197
    Cell Significance Index: -1.6800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1205
    Cell Significance Index: -4.2200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1239
    Cell Significance Index: -2.5700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1255
    Cell Significance Index: -3.0100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1289
    Cell Significance Index: -4.2200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1362
    Cell Significance Index: -2.2800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1385
    Cell Significance Index: -4.4100
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.1390
    Cell Significance Index: -2.2900
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.1447
    Cell Significance Index: -1.7900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1490
    Cell Significance Index: -5.4700
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.1519
    Cell Significance Index: -3.0900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1586
    Cell Significance Index: -4.6700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1597
    Cell Significance Index: -3.3900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1618
    Cell Significance Index: -4.2600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Subunit structure:** The epsilon subunit is a constituent of the nicotinic cholinergic receptor, a pentameric receptor composed of five subunits (alpha, beta, gamma, delta, and epsilon). 2. **Ion channel activity:** The epsilon subunit is an integral part of the acetylcholine-gated channel complex, allowing for the flow of monoatomic ions (such as sodium and potassium) across the postsynaptic membrane. 3. **Regulation of postsynaptic membrane potential:** The epsilon subunit plays a critical role in modulating the postsynaptic membrane potential, particularly in the context of excitatory postsynaptic potentials (EPSPs) and inhibitory postsynaptic potentials (IPSPs). 4. **Expression in various cell types:** The epsilon subunit has been detected in a range of cell types, including neurons, glial cells, and epithelial cells, underscoring its broad functional significance. **Pathways and Functions:** 1. **Acetylcholine-gated channel complex:** The epsilon subunit is part of the acetylcholine-gated channel complex, which allows for the transmission of signals across chemical synapses in response to acetylcholine binding. 2. **Excitatory postsynaptic potential (EPSP) regulation:** The epsilon subunit modulates the EPSP, a type of postsynaptic potential that enhances neuronal excitability. 3. **Inhibitory postsynaptic potential (IPSP) regulation:** The epsilon subunit also modulates the IPSP, a type of postsynaptic potential that reduces neuronal excitability. 4. **Neuromuscular junction regulation:** The epsilon subunit plays a critical role in regulating the postsynaptic membrane potential at neuromuscular junctions, facilitating muscle contraction and relaxation. **Clinical Significance:** Dysregulation of the epsilon subunit has been implicated in various neurological and neuromuscular disorders, including: 1. **Myasthenia gravis:** An autoimmune disease characterized by impaired neuromuscular transmission, with the epsilon subunit being a potential target for therapeutic intervention. 2. **Neurodegenerative diseases:** The epsilon subunit has been implicated in the pathogenesis of neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease, where dysregulation of postsynaptic membrane potential contributes to neuronal dysfunction. 3. **Muscular dystrophy:** The epsilon subunit has been identified as a potential therapeutic target for muscular dystrophy, a group of genetic disorders characterized by progressive muscle weakness and degeneration. In conclusion, the epsilon subunit of the nicotinic cholinergic receptor plays a critical role in regulating postsynaptic membrane potential, particularly in the context of neuromuscular junctions and the nervous system. Dysregulation of the epsilon subunit has been implicated in various neurological and neuromuscular disorders, highlighting its potential as a therapeutic target for the treatment of these diseases.

Genular Protein ID: 3562568325

Symbol: ACHE_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q04844 D3DTK6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEBI 2 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugCentral 1 EMBL 4 Ensembl 1 ExpressionAtlas 1 GO 15 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 8 MalaCards 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7688301

Title: Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits.

PubMed ID: 7688301

DOI: 10.1111/j.1432-1033.1993.tb18027.x

PubMed ID: 15609996

Title: Alpha-conotoxins ImI and ImII target distinct regions of the human alpha7 nicotinic acetylcholine receptor and distinguish human nicotinic receptor subtypes.

PubMed ID: 15609996

DOI: 10.1021/bi048918g

PubMed ID: 7538206

Title: A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome.

PubMed ID: 7538206

DOI: 10.1212/wnl.45.5.982

PubMed ID: 7531341

Title: Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.

PubMed ID: 7531341

DOI: 10.1073/pnas.92.3.758

PubMed ID: 8872460

Title: New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.

PubMed ID: 8872460

DOI: 10.1093/hmg/5.9.1217

PubMed ID: 8755487

Title: Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit.

PubMed ID: 8755487

DOI: 10.1016/s0896-6273(00)80289-5

PubMed ID: 9158150

Title: Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.

PubMed ID: 9158150

DOI: 10.1093/hmg/6.5.753

PubMed ID: 10962020

Title: Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome.

PubMed ID: 10962020

DOI: 10.1085/jgp.116.3.449

PubMed ID: 12141316

Title: Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.

PubMed ID: 12141316

DOI: 10.1212/wnl.59.2.162

PubMed ID: 22592360

Title: Highly fatal fast-channel syndrome caused by AChR epsilon subunit mutation at the agonist binding site.

PubMed ID: 22592360

DOI: 10.1212/wnl.0b013e31825b5bda

PubMed ID: 27375219

Title: Mutations causing slow-channel myasthenia reveal that a valine ring in the channel pore of muscle AChR is optimized for stabilizing channel gating.

PubMed ID: 27375219

DOI: 10.1002/humu.23043

Sequence Information:

  • Length: 493
  • Mass: 54697
  • Checksum: A34AF273AF8B31FE
  • Sequence:
    • MARAPLGVLL LLGLLGRGVG KNEELRLYHH LFNNYDPGSR PVREPEDTVT ISLKVTLTNL 
ISLNEKEETL TTSVWIGIDW QDYRLNYSKD DFGGIETLRV PSELVWLPEI VLENNIDGQF 
GVAYDANVLV YEGGSVTWLP PAIYRSVCAV EVTYFPFDWQ NCSLIFRSQT YNAEEVEFTF 
AVDNDGKTIN KIDIDTEAYT ENGEWAIDFC PGVIRRHHGG ATDGPGETDV IYSLIIRRKP 
LFYVINIIVP CVLISGLVLL AYFLPAQAGG QKCTVSINVL LAQTVFLFLI AQKIPETSLS 
VPLLGRFLIF VMVVATLIVM NCVIVLNVSQ RTPTTHAMSP RLRHVLLELL PRLLGSPPPP 
EAPRAASPPR RASSVGLLLR AEELILKKPR SELVFEGQRH RQGTWTAAFC QSLGAAAPEV 
RCCVDAVNFV AESTRDQEAT GEEVSDWVRM GNALDNICFW AALVLFSVGS SLIFLGAYFN 
RVPDLPYAPC IQP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.