Details for: CHRNE

Gene ID: 1145

Symbol: CHRNE

Ensembl ID: ENSG00000108556

Description: cholinergic receptor nicotinic epsilon subunit

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.6
    Marker Score: 1163
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.25
    Marker Score: 849
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.25
    Marker Score: 4432
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.08
    Marker Score: 496
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.01
    Marker Score: 2045
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71823
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48048
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 502
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 455
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.95
    Marker Score: 1962
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.93
    Marker Score: 1760
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5248
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2736
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 319
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5283
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1257
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 703
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 390
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 562
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.69
    Marker Score: 633
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 173
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.67
    Marker Score: 270
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.66
    Marker Score: 2754
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.66
    Marker Score: 211
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.62
    Marker Score: 9627
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.59
    Marker Score: 388
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.53
    Marker Score: 336
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.49
    Marker Score: 759
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.48
    Marker Score: 4493
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.46
    Marker Score: 165
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.45
    Marker Score: 275
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.45
    Marker Score: 1866
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.44
    Marker Score: 266
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.44
    Marker Score: 137
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.41
    Marker Score: 15065
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.41
    Marker Score: 857
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.4
    Marker Score: 98
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.38
    Marker Score: 370
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.38
    Marker Score: 220
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.37
    Marker Score: 7850
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.37
    Marker Score: 442
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.36
    Marker Score: 22148
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.34
    Marker Score: 87
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.33
    Marker Score: 3144
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.33
    Marker Score: 2826
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.33
    Marker Score: 767
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.32
    Marker Score: 153
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.31
    Marker Score: 99
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.31
    Marker Score: 1274
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.3
    Marker Score: 123
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.28
    Marker Score: 88
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.27
    Marker Score: 270.5
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.27
    Marker Score: 5336
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.26
    Marker Score: 150
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.25
    Marker Score: 1931
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.23
    Marker Score: 402
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.23
    Marker Score: 3378
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.23
    Marker Score: 584
  • Cell Name: basophil (CL0000767)
    Fold Change: 0.23
    Marker Score: 107
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.22
    Marker Score: 244
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.21
    Marker Score: 288
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.21
    Marker Score: 61
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.21
    Marker Score: 94
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.21
    Marker Score: 7938
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.21
    Marker Score: 109
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.21
    Marker Score: 70
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.21
    Marker Score: 119
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2
    Marker Score: 789
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.2
    Marker Score: 89
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.2
    Marker Score: 211
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.19
    Marker Score: 188
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 0.19
    Marker Score: 77
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: 0.19
    Marker Score: 94
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.19
    Marker Score: 55
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.18
    Marker Score: 49
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 0.18
    Marker Score: 210
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.18
    Marker Score: 73
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.18
    Marker Score: 70
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.18
    Marker Score: 198
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.17
    Marker Score: 98
  • Cell Name: activated CD4-positive, alpha-beta T cell, human (CL0001043)
    Fold Change: 0.17
    Marker Score: 78
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.17
    Marker Score: 482
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 41
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.16
    Marker Score: 111
  • Cell Name: B-2 B cell (CL0000822)
    Fold Change: 0.16
    Marker Score: 198
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.16
    Marker Score: 97
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 0.16
    Marker Score: 123
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.16
    Marker Score: 203
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.15
    Marker Score: 570
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.15
    Marker Score: 64
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.15
    Marker Score: 132
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 0.15
    Marker Score: 617
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.15
    Marker Score: 114
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.14
    Marker Score: 43
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.14
    Marker Score: 243
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.14
    Marker Score: 161
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.14
    Marker Score: 315

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Other Information

**Key characteristics:** - Type: transmembrane protein - Ensembl ID: ENSG00000108556 - Protein length: 444 amino acids - Tissue distribution: expressed in colon goblet cell, intestinal crypt stem cell of small intestine, regular atrial cardiac myocyte, transit amplifying cell of colon, immature innate lymphoid cell, cerebral cortex GABAergic interneuron, forebrain radial glial cell, absorptive cell, tuft cell of colon, BEST4+ intestinal epithelial cell **Pathways and functions:** - Acetylcholine-gated monoatomic cation-selective channel activity: The CHRNE gene product is a subunit of the nicotinic acetylcholine receptor, which is a ligand-gated ion channel. When acetylcholine binds to the receptor, it causes the channel to open, allowing monoatomic cations to flow into the cell. This influx of cations depolarizes the cell and inhibits the action potential. - Acetylcholine binding and downstream events: When acetylcholine binds to the receptor, it also binds to other components of the receptor complex, including the alpha-subunit. This binding triggers a cascade of events that ultimately lead to the opening of the channel. - Acetylcholine receptor activity: The channel that is opened by acetylcholine is a ligand-gated cation channel. This means that it only opens when it is stimulated by acetylcholine. - Chemical synaptic transmission: The opening of the channel by acetylcholine allows calcium ions to flow into the cell, which can lead to a variety of cellular responses, including muscle contraction and neurotransmitter release. **Clinical significance:** The CHRNE gene has been linked to a number of diseases, including irritable bowel syndrome, Parkinson's disease, and schizophrenia. In these diseases, the expression of the CHRNE gene is often increased or altered. This suggests that the protein is involved in the pathogenesis of these disorders. Further research is needed to determine the exact role of the CHRNE gene in these diseases and to develop new therapies.

Genular Protein ID: 3562568325

Symbol: ACHE_HUMAN

Name: Acetylcholine receptor subunit epsilon

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 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugCentral 1 EMBL 4 Ensembl 1 ExpressionAtlas 1 GO 13 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 8 MalaCards 1 MaxQB 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 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. For the full schema, download it here.