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Aliases for CHRNA3 Gene

Aliases for CHRNA3 Gene

  • Cholinergic Receptor Nicotinic Alpha 3 Subunit 2 3
  • Cholinergic Receptor, Nicotinic Alpha 3 2 3 5
  • Cholinergic Receptor, Nicotinic, Alpha Polypeptide 3 2 3
  • Cholinergic Receptor, Nicotinic, Alpha 3 (Neuronal) 2 3
  • NACHRA3 3 4
  • Neuronal Nicotinic Acetylcholine Receptor, Alpha3 Subunit 3
  • Acetylcholine Receptor 2
  • Alpha 3 (Neuronal) 2
  • Nicotinic 2
  • LNCR2 3
  • PAOD2 3

External Ids for CHRNA3 Gene

Previous GeneCards Identifiers for CHRNA3 Gene

  • GC15P074984
  • GC15M071975
  • GC15M076461
  • GC15M076601
  • GC15M076672
  • GC15M078885
  • GC15M055642

Summaries for CHRNA3 Gene

Entrez Gene Summary for CHRNA3 Gene

  • This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]

GeneCards Summary for CHRNA3 Gene

CHRNA3 (Cholinergic Receptor Nicotinic Alpha 3 Subunit) is a Protein Coding gene. Diseases associated with CHRNA3 include lung cancer susceptibility 2 and visceral myopathy. Among its related pathways are Circadian entrainment and Peptide ligand-binding receptors. GO annotations related to this gene include extracellular ligand-gated ion channel activity and ligand-gated ion channel activity. An important paralog of this gene is CHRNA2.

UniProtKB/Swiss-Prot for CHRNA3 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 CHRNA3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRNA3 Gene

Genomics for CHRNA3 Gene

Regulatory Elements for CHRNA3 Gene

Enhancers for CHRNA3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CHRNA3 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHRNA3 Gene

Chromosome:
15
Start:
78,593,052 bp from pter
End:
78,621,295 bp from pter
Size:
28,244 bases
Orientation:
Minus strand

Genomic View for CHRNA3 Gene

Genes around CHRNA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRNA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRNA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRNA3 Gene

Proteins for CHRNA3 Gene

  • Protein details for CHRNA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P32297-ACHA3_HUMAN
    Recommended name:
    Neuronal acetylcholine receptor subunit alpha-3
    Protein Accession:
    P32297
    Secondary Accessions:
    • Q15823
    • Q4KMN8
    • Q86U77
    • Q96RH3
    • Q99553
    • Q9BQ93
    • Q9BRR4

    Protein attributes for CHRNA3 Gene

    Size:
    505 amino acids
    Molecular mass:
    57480 Da
    Quaternary structure:
    • Neuronal AChR is composed of two different types of subunits: alpha and beta. Alpha-3 subunit can be combined to beta-2 or beta-4 to give rise to functional receptors. Interacts with RIC3; which is required for proper folding and assembly.

    Three dimensional structures from OCA and Proteopedia for CHRNA3 Gene

    Alternative splice isoforms for CHRNA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHRNA3 Gene

Proteomics data for CHRNA3 Gene at MOPED

Post-translational modifications for CHRNA3 Gene

  • Glycosylation at Asn 54 and Asn 171
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRNA3 Gene

Antibody Products

No data available for DME Specific Peptides for CHRNA3 Gene

Domains & Families for CHRNA3 Gene

Gene Families for CHRNA3 Gene

Graphical View of Domain Structure for InterPro Entry

P32297

UniProtKB/Swiss-Prot:

ACHA3_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-3/CHRNA3 sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-3/CHRNA3 sub-subfamily.
genes like me logo Genes that share domains with CHRNA3: view

Function for CHRNA3 Gene

Molecular function for CHRNA3 Gene

GENATLAS Biochemistry:
cholinergic receptor,nicotinic,alpha 3 polypeptide,neuronal
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.

Gene Ontology (GO) - Molecular Function for CHRNA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004889 acetylcholine-activated cation-selective channel activity TAS 20438829
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0015464 acetylcholine receptor activity IEA,IDA 8906617
genes like me logo Genes that share ontologies with CHRNA3: view
genes like me logo Genes that share phenotypes with CHRNA3: view

Animal Models for CHRNA3 Gene

MGI Knock Outs for CHRNA3:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CHRNA3 Gene

Localization for CHRNA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRNA3 Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHRNA3 Gene COMPARTMENTS Subcellular localization image for CHRNA3 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CHRNA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA,NAS 8906617
GO:0030425 dendrite IEA,ISS --
genes like me logo Genes that share ontologies with CHRNA3: view

Pathways & Interactions for CHRNA3 Gene

genes like me logo Genes that share pathways with CHRNA3: view

Gene Ontology (GO) - Biological Process for CHRNA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA,NAS 8906617
GO:0006940 regulation of smooth muscle contraction ISS --
GO:0007165 signal transduction IDA 8906617
GO:0007171 activation of transmembrane receptor protein tyrosine kinase activity ISS --
genes like me logo Genes that share ontologies with CHRNA3: view

No data available for SIGNOR curated interactions for CHRNA3 Gene

Drugs & Compounds for CHRNA3 Gene

(25) Drugs for CHRNA3 Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nicotine Approved Pharma Antagonist, Target, agonist 990
Ethanol Approved Pharma Target 1924
Varenicline Approved, Investigational Pharma agonist, Target, partial agonist 256
Mecamylamine Approved Pharma Channel blocker, antagonist 25
Bupropion Approved Pharma Target, antagonist 312

(5) Additional Compounds for CHRNA3 Gene - From: IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
alpha-conotoxin AuIB
Antagonist
alpha-conotoxin MII
Antagonist
alpha-conotoxin PnIA
Antagonist
alpha-conotoxin TxIA
Antagonist
alpha-conotoxin-GIC
Antagonist
genes like me logo Genes that share compounds with CHRNA3: view

Transcripts for CHRNA3 Gene

Unigene Clusters for CHRNA3 Gene

Cholinergic receptor, nicotinic, alpha 3 (neuronal):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHRNA3 Gene

No ASD Table

Relevant External Links for CHRNA3 Gene

GeneLoc Exon Structure for
CHRNA3
ECgene alternative splicing isoforms for
CHRNA3

Expression for CHRNA3 Gene

mRNA expression in normal human tissues for CHRNA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHRNA3 Gene

This gene is overexpressed in Colon - Sigmoid (x8.3), Adrenal Gland (x5.6), and Brain - Cerebellum (x5.4).

SOURCE GeneReport for Unigene cluster for CHRNA3 Gene Hs.89605

genes like me logo Genes that share expression patterns with CHRNA3: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for CHRNA3 Gene

Orthologs for CHRNA3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRNA3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CHRNA3 35
  • 91.58 (n)
  • 95.82 (a)
CHRNA3 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHRNA3 35
  • 87.3 (n)
  • 93.26 (a)
CHRNA3 36
  • 66 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chrna3 35
  • 88.91 (n)
  • 93.93 (a)
Chrna3 16
Chrna3 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHRNA3 35
  • 99.01 (n)
  • 99.01 (a)
CHRNA3 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chrna3 35
  • 88.54 (n)
  • 93.92 (a)
oppossum
(Monodelphis domestica)
Mammalia CHRNA3 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHRNA3 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHRNA3 35
  • 77.22 (n)
  • 85.23 (a)
CHRNA3 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498049 35
  • 69.92 (n)
  • 75.49 (a)
zebrafish
(Danio rerio)
Actinopterygii chrna3 35
  • 70.75 (n)
  • 76.16 (a)
chrna3 36
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta nAcRalpha-30D 37
  • 31 (a)
nAcRalpha-7E 37
  • 54 (a)
nAcRalpha-80B 37
  • 41 (a)
nAcRalpha-96Aa 37
  • 55 (a)
nAcRalpha-96Ab 37
  • 42 (a)
nAcRbgr-64B 37
  • 44 (a)
nAcRbgr-96A 37
  • 44 (a)
nAcRalpha-80B 35
  • 52.86 (n)
  • 49.14 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000138 35
  • 54.63 (n)
  • 49.89 (a)
worm
(Caenorhabditis elegans)
Secernentea acr-10 37
  • 42 (a)
acr-11 37
  • 36 (a)
acr-12 37
  • 37 (a)
acr-13 37
  • 31 (a)
acr-14 37
  • 28 (a)
acr-15 37
  • 30 (a)
acr-16 37
  • 37 (a)
acr-17 37
  • 27 (a)
acr-18 37
  • 26 (a)
acr-2 37
  • 39 (a)
acr-22 37
  • 29 (a)
acr-23 37
  • 27 (a)
acr-3 37
  • 39 (a)
acr-5 37
  • 29 (a)
acr-7 37
  • 32 (a)
acr-8 37
  • 33 (a)
acr-9 37
  • 34 (a)
C04C3.2 37
  • 27 (a)
deg-3 37
  • 29 (a)
F11C7.1 37
  • 29 (a)
F18G5.4 37
  • 33 (a)
lev-1 37
  • 37 (a)
unc-29 37
  • 39 (a)
unc-38 37
  • 42 (a)
Y44A6E.1 37
  • 29 (a)
Y73F8A.30 37
  • 29 (a)
ZK973.5 37
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 60 (a)
OneToMany
Species with no ortholog for CHRNA3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 CHRNA3 Gene

ENSEMBL:
Gene Tree for CHRNA3 (if available)
TreeFam:
Gene Tree for CHRNA3 (if available)

Paralogs for CHRNA3 Gene

genes like me logo Genes that share paralogs with CHRNA3: view

Variants for CHRNA3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CHRNA3 Gene

P32297-ACHA3_HUMAN
Genetic variations in CHRNA3 have been associated with susceptibility to smoking-related behavioral traits and lung cancer, contributing to the smoking quantitative trait locus 3 (SQTL3) [MIM:612052].

Sequence variations from dbSNP and Humsavar for CHRNA3 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs8192475 - 78,618,888(-) GCACC(A/C/G)TCTAT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs578776 -- 78,596,058(-) TATAC(C/T)ATGAG intron-variant, utr-variant-3-prime
rs6495307 -- 78,597,979(+) TACTT(C/T)ATTTG intron-variant
rs6495308 -- 78,615,314(+) TGCTG(C/T)TGGGA intron-variant
rs11856778 -- 78,613,776(+) AAAAA(A/C)CAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHRNA3 Gene

Variant ID Type Subtype PubMed ID
nsv518840 CNV Loss 19592680
nsv513434 CNV Insertion 21212237
esv1448423 CNV Insertion 17803354
nsv457208 CNV Gain 19166990
nsv1628 CNV Insertion 18451855

Variation tolerance for CHRNA3 Gene

Residual Variation Intolerance Score: 27.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.34; 41.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHRNA3 Gene

HapMap Linkage Disequilibrium report
CHRNA3
Human Gene Mutation Database (HGMD)
CHRNA3

Disorders for CHRNA3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CHRNA3 Gene - From: OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lung cancer susceptibility 2
  • nicotine dependence
visceral myopathy
  • intestinal pseudo-obstruction
substance dependence
cannabis abuse
  • marijuana abuse
autosomal dominant nocturnal frontal lobe epilepsy
  • epilepsy, nocturnal frontal lobe, 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CHRNA3

Genetic Association Database (GAD)
CHRNA3
Human Genome Epidemiology (HuGE) Navigator
CHRNA3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHRNA3
genes like me logo Genes that share disorders with CHRNA3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHRNA3 Gene

Publications for CHRNA3 Gene

  1. A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25. (PMID: 18385738) Hung R.J. … Brennan P. (Nature 2008) 3 4 48 67
  2. Neuronal nicotinic acetylcholine receptors: common molecular substrates of nicotine and alcohol dependence. (PMID: 23641218) Hendrickson L.M. … Tapper A.R. (Front Psychiatry 2013) 25 26
  3. Association and interaction analysis of variants in CHRNA5/CHRNA3/CHRNB4 gene cluster with nicotine dependence in African and European Americans. (PMID: 19859904) Li M.D. … Ma J.Z. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 23
  4. Sensorimotor gating is associated with CHRNA3 polymorphisms in schizophrenia and healthy volunteers. (PMID: 20393456) Petrovsky N. … Kumari V. (Neuropsychopharmacology 2010) 3 23
  5. Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. (PMID: 19628475) Sabatelli M. … Zollino M. (Hum. Mol. Genet. 2009) 3 23

Products for CHRNA3 Gene

Sources for CHRNA3 Gene

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