Details for: CHRNA3

Gene ID: 1136

Symbol: CHRNA3

Ensembl ID: ENSG00000080644

Description: cholinergic receptor nicotinic alpha 3 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: photoreceptor cell (CL0000210)
    Fold Change: 7.4564
    Cell Significance Index: 104.7300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.7195
    Cell Significance Index: 37.6500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.5643
    Cell Significance Index: 95.9100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.8241
    Cell Significance Index: 26.4000
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.7993
    Cell Significance Index: 6.0400
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.6568
    Cell Significance Index: 10.4200
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.6425
    Cell Significance Index: 4.6500
  • Cell Name: sensory neuron (CL0000101)
    Fold Change: 0.6386
    Cell Significance Index: 3.6300
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.5888
    Cell Significance Index: 4.8200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4952
    Cell Significance Index: 94.2400
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 0.4418
    Cell Significance Index: 3.9000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.4035
    Cell Significance Index: 22.6500
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.3604
    Cell Significance Index: 8.7300
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.3075
    Cell Significance Index: 2.3900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2667
    Cell Significance Index: 5.6800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2480
    Cell Significance Index: 223.9400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2251
    Cell Significance Index: 22.2700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.2156
    Cell Significance Index: 2.5700
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.2019
    Cell Significance Index: 2.5200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1917
    Cell Significance Index: 11.5100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1831
    Cell Significance Index: 19.9200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.1730
    Cell Significance Index: 2.3600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1571
    Cell Significance Index: 8.2500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1481
    Cell Significance Index: 24.1000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1285
    Cell Significance Index: 8.1000
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 0.1181
    Cell Significance Index: 1.2300
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.0861
    Cell Significance Index: 0.5600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0857
    Cell Significance Index: 5.9300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0790
    Cell Significance Index: 11.4800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0695
    Cell Significance Index: 44.1600
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.0648
    Cell Significance Index: 0.5400
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.0627
    Cell Significance Index: 0.6800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0552
    Cell Significance Index: 3.5600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0514
    Cell Significance Index: 2.6700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0512
    Cell Significance Index: 1.8000
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.0405
    Cell Significance Index: 1.0100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0201
    Cell Significance Index: 0.5800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0160
    Cell Significance Index: 30.1800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0111
    Cell Significance Index: 0.2400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0087
    Cell Significance Index: 6.0000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0063
    Cell Significance Index: 0.1700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0028
    Cell Significance Index: 0.5000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0022
    Cell Significance Index: 0.0600
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0005
    Cell Significance Index: -0.0200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0009
    Cell Significance Index: -0.4900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0014
    Cell Significance Index: -2.5600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0015
    Cell Significance Index: -2.3500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0018
    Cell Significance Index: -2.4200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0021
    Cell Significance Index: -0.4100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0028
    Cell Significance Index: -0.3800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0030
    Cell Significance Index: -1.3300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0041
    Cell Significance Index: -3.0700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0046
    Cell Significance Index: -2.8900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0048
    Cell Significance Index: -2.1800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0053
    Cell Significance Index: -1.9000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0053
    Cell Significance Index: -2.9000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0058
    Cell Significance Index: -0.1200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0060
    Cell Significance Index: -0.2700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0069
    Cell Significance Index: -1.3900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0092
    Cell Significance Index: -2.6400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0100
    Cell Significance Index: -1.2300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0112
    Cell Significance Index: -0.1600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0147
    Cell Significance Index: -3.1000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0168
    Cell Significance Index: -2.8700
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.0218
    Cell Significance Index: -0.2700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0226
    Cell Significance Index: -0.6300
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: -0.0232
    Cell Significance Index: -0.2500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0246
    Cell Significance Index: -0.6700
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0265
    Cell Significance Index: -0.4000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0276
    Cell Significance Index: -3.1600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0300
    Cell Significance Index: -3.5000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0320
    Cell Significance Index: -3.3300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0321
    Cell Significance Index: -3.7900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0332
    Cell Significance Index: -1.4700
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: -0.0403
    Cell Significance Index: -0.5100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0452
    Cell Significance Index: -3.4700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0463
    Cell Significance Index: -1.1900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0465
    Cell Significance Index: -2.1700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0467
    Cell Significance Index: -0.8000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0480
    Cell Significance Index: -3.2300
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.0486
    Cell Significance Index: -0.5300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0506
    Cell Significance Index: -1.0600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0558
    Cell Significance Index: -3.4300
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: -0.0566
    Cell Significance Index: -0.3800
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.0571
    Cell Significance Index: -0.7500
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.0580
    Cell Significance Index: -0.8000
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0609
    Cell Significance Index: -0.7100
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.0615
    Cell Significance Index: -0.6200
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0628
    Cell Significance Index: -0.9400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0632
    Cell Significance Index: -3.2900
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.0634
    Cell Significance Index: -0.7000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0650
    Cell Significance Index: -2.4600
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.0686
    Cell Significance Index: -0.5900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0707
    Cell Significance Index: -3.3300
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.0710
    Cell Significance Index: -1.0100
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.0763
    Cell Significance Index: -0.9300
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0765
    Cell Significance Index: -0.7300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0765
    Cell Significance Index: -2.8100
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.0776
    Cell Significance Index: -0.7600
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0817
    Cell Significance Index: -2.0400

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. **Structure**: The alpha 3 subunit is a membrane-bound protein with four transmembrane domains and a large extracellular loop. 2. **Function**: The alpha 3 subunit is a component of the nAChR, a ligand-gated ion channel that regulates the flow of ions across the plasma membrane in response to the binding of acetylcholine or nicotine. 3. **Expression**: The alpha 3 subunit is highly expressed in the nervous system, particularly in neurons, and is also found in other tissues, including the heart, smooth muscle, and epithelial cells. 4. **Regulation**: The alpha 3 subunit is regulated by various mechanisms, including phosphorylation, ubiquitination, and interactions with other proteins. **Pathways and Functions** 1. **Acetylcholine-gated channel complex**: The alpha 3 subunit forms a complex with other subunits to form the nAChR, which is activated by the binding of acetylcholine or nicotine. 2. **Acetylcholine binding**: The alpha 3 subunit binds to acetylcholine or nicotine, triggering a conformational change that opens the ion channel and allows ions to flow across the plasma membrane. 3. **Signal transduction**: The alpha 3 subunit is involved in signal transduction pathways, including the regulation of neurotransmitter release and neuronal development. 4. **Regulation of membrane potential**: The alpha 3 subunit regulates the membrane potential of neurons by modulating the flow of ions across the plasma membrane. **Clinical Significance** 1. **Smoking-related disorders**: Variations in the CHRNA3 gene have been associated with an increased risk of smoking-related disorders, including lung cancer and cardiovascular disease. 2. **Neuropsychiatric conditions**: The alpha 3 subunit has been implicated in the pathogenesis of various neuropsychiatric conditions, including schizophrenia and attention-deficit/hyperactivity disorder (ADHD). 3. **Neurodevelopmental disorders**: The alpha 3 subunit is involved in the regulation of neuronal development and has been implicated in the pathogenesis of neurodevelopmental disorders, including autism spectrum disorder and intellectual disability. 4. **Pharmacological targets**: The alpha 3 subunit has been identified as a potential target for the development of novel therapeutic agents, including nicotine replacement therapy and medications for smoking cessation. In conclusion, the CHRNA3 gene plays a critical role in regulating various physiological processes, including neurotransmission, muscle contraction, and neuronal development. Variations in the CHRNA3 gene have been associated with several diseases, including smoking-related disorders and neuropsychiatric conditions, highlighting the importance of this gene in human health and disease.

Genular Protein ID: 1954824543

Symbol: ACHA3_HUMAN

Name: Neuronal acetylcholine receptor subunit alpha-3

UniProtKB Accession Codes:

P32297 Q15823 Q4KMN8 Q86U77 Q96RH3 Q99553 Q9BQ93 Q9BRR4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 6 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 17 DrugCentral 1 EMBL 20 EMDB 2 Ensembl 3 ExpressionAtlas 1 GO 34 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 4 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 5 PIR 2 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 3 RNAct 1 Reactome 3 RefSeq 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 2336208

Title: Molecular cloning of human neuronal nicotinic receptor alpha 3-subunit.

PubMed ID: 2336208

DOI: 10.1016/0304-3940(90)90287-j

PubMed ID: 1989896

Title: Expression of mRNAs in human thymus coding for the alpha 3 subunit of a neuronal acetylcholine receptor.

PubMed ID: 1989896

DOI: 10.1016/0014-4886(91)90004-v

PubMed ID: 8906617

Title: Comparative structure of human neuronal alpha 2-alpha 7 and beta 2-beta 4 nicotinic acetylcholine receptor subunits and functional expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and beta 4 subunits.

PubMed ID: 8906617

DOI: 10.1007/bf02736842

PubMed ID: 9009220

Title: Cloning and sequence of full-length cDNAs encoding the human neuronal nicotinic acetylcholine receptor (nAChR) subunits beta3 and beta4 and expression of seven nAChR subunits in the human neuroblastoma cell line SH-SY5Y and/or IMR-32.

PubMed ID: 9009220

DOI: 10.1016/s0014-5793(96)01383-x

PubMed ID: 9921897

Title: The structures of the human neuronal nicotinic acetylcholine receptor beta2- and alpha3-subunit genes (CHRNB2 and CHRNA3).

PubMed ID: 9921897

DOI: 10.1007/s004390050885

PubMed ID: 11450844

Title: Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4.

PubMed ID: 11450844

DOI: 10.1007/pl00010921

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

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: 16120769

Title: RIC-3 enhances functional expression of multiple nicotinic acetylcholine receptor subtypes in mammalian cells.

PubMed ID: 16120769

DOI: 10.1124/mol.105.017459

PubMed ID: 18385720

Title: Genomics: when the smoke clears.

PubMed ID: 18385720

DOI: 10.1038/452537a

PubMed ID: 18385738

Title: A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25.

PubMed ID: 18385738

DOI: 10.1038/nature06885

PubMed ID: 18385739

Title: A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.

PubMed ID: 18385739

DOI: 10.1038/nature06846

PubMed ID: 18385676

Title: Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.

PubMed ID: 18385676

DOI: 10.1038/ng.109

PubMed ID: 26265139

Title: UBXN2A regulates nicotinic receptor degradation by modulating the E3 ligase activity of CHIP.

PubMed ID: 26265139

DOI: 10.1016/j.bcp.2015.08.084

PubMed ID: 27344019

Title: Functional interaction between Lypd6 and nicotinic acetylcholine receptors.

PubMed ID: 27344019

DOI: 10.1111/jnc.13718

PubMed ID: 31708116

Title: CAKUT and autonomic dysfunction caused by acetylcholine receptor mutations.

PubMed ID: 31708116

DOI: 10.1016/j.ajhg.2019.10.004

Sequence Information:

  • Length: 505
  • Mass: 57480
  • Checksum: 478D7712D59ACB2D
  • Sequence:
    • MGSGPLSLPL ALSPPRLLLL LLLSLLPVAR ASEAEHRLFE RLFEDYNEII RPVANVSDPV 
IIHFEVSMSQ LVKVDEVNQI METNLWLKQI WNDYKLKWNP SDYGGAEFMR VPAQKIWKPD 
IVLYNNAVGD FQVDDKTKAL LKYTGEVTWI PPAIFKSSCK IDVTYFPFDY QNCTMKFGSW 
SYDKAKIDLV LIGSSMNLKD YWESGEWAII KAPGYKHDIK YNCCEEIYPD ITYSLYIRRL 
PLFYTINLII PCLLISFLTV LVFYLPSDCG EKVTLCISVL LSLTVFLLVI TETIPSTSLV 
IPLIGEYLLF TMIFVTLSIV ITVFVLNVHY RTPTTHTMPS WVKTVFLNLL PRVMFMTRPT 
SNEGNAQKPR PLYGAELSNL NCFSRAESKG CKEGYPCQDG MCGYCHHRRI KISNFSANLT 
RSSSSESVDA VLSLSALSPE IKEAIQSVKY IAENMKAQNE AKEIQDDWKY VAMVIDRIFL 
WVFTLVCILG TAGLFLQPLM AREDA

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.