The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by... See more...

Aliases for CHRNA5 Gene

Aliases for CHRNA5 Gene

  • Cholinergic Receptor Nicotinic Alpha 5 Subunit 2 3 5
  • Acetylcholine Receptor, Nicotinic, Alpha 5 (Neuronal) 2 3
  • Cholinergic Receptor, Nicotinic, Alpha 5 (Neuronal) 2 3
  • Neuronal Acetylcholine Receptor Subunit Alpha-5 3 4
  • Cholinergic Receptor, Nicotinic Alpha 5 2 3
  • Cholinergic Receptor, Neuronal Nicotinic, Alpha Polypeptide-5 3
  • Neuronal Nicotinic Acetylcholine Receptor, Alpha5 Subunit 3
  • Cholinergic Receptor, Nicotinic, Alpha Polypeptide 5 2
  • NACHRA5 4
  • LNCR2 3

External Ids for CHRNA5 Gene

Previous GeneCards Identifiers for CHRNA5 Gene

  • GC15P074936
  • GC15P071947
  • GC15P076433
  • GC15P076573
  • GC15P076644
  • GC15P078857
  • GC15P055614

Summaries for CHRNA5 Gene

Entrez Gene Summary for CHRNA5 Gene

  • The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010]

GeneCards Summary for CHRNA5 Gene

CHRNA5 (Cholinergic Receptor Nicotinic Alpha 5 Subunit) is a Protein Coding gene. Diseases associated with CHRNA5 include Smoking As A Quantitative Trait Locus 3 and Substance Dependence. 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 and ligand-gated ion channel activity. An important paralog of this gene is CHRNB3.

UniProtKB/Swiss-Prot Summary for CHRNA5 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 CHRNA5 Gene

Additional gene information for CHRNA5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHRNA5 Gene

Genomics for CHRNA5 Gene

GeneHancer (GH) Regulatory Elements for CHRNA5 Gene

Promoters and enhancers for CHRNA5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHRNA5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CHRNA5 gene promoter:
  • Evi-1
  • IRF-7A
  • MAZR
  • MyoD
  • Pax-4a
  • Pax-6
  • POU3F2
  • PPAR-gamma1
  • PPAR-gamma2
  • RORalpha1

Genomic Locations for CHRNA5 Gene

Genomic Locations for CHRNA5 Gene
chr15:78,565,520-78,595,269
(GRCh38/hg38)
Size:
29,750 bases
Orientation:
Plus strand
chr15:78,857,862-78,887,611
(GRCh37/hg19)
Size:
29,750 bases
Orientation:
Plus strand

Genomic View for CHRNA5 Gene

Genes around CHRNA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRNA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRNA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRNA5 Gene

Proteins for CHRNA5 Gene

  • Protein details for CHRNA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30532-ACHA5_HUMAN
    Recommended name:
    Neuronal acetylcholine receptor subunit alpha-5
    Protein Accession:
    P30532
    Secondary Accessions:
    • Q15824
    • Q99554

    Protein attributes for CHRNA5 Gene

    Size:
    468 amino acids
    Molecular mass:
    53054 Da
    Quaternary structure:
    • Neuronal AChR seems to be composed of two different type of subunits: alpha and non-alpha (beta). Interacts with LYPD6 (PubMed:27344019).

neXtProt entry for CHRNA5 Gene

Post-translational modifications for CHRNA5 Gene

  • Glycosylation at Asn155, Asn183, and Asn229
  • Ubiquitination at Lys119 and Lys377
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRNA5 Gene

No data available for DME Specific Peptides for CHRNA5 Gene

Domains & Families for CHRNA5 Gene

Gene Families for CHRNA5 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CHRNA5 Gene

GenScript: Design optimal peptide antigens:
  • Neuronal acetylcholine receptor subunit alpha-5 (ACHA5_HUMAN)
  • Neuronal nicotinic acetylcholine receptor, alpha5 subunit (Q6EWN4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P30532

UniProtKB/Swiss-Prot:

ACHA5_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-5/CHRNA5 sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-5/CHRNA5 sub-subfamily.
genes like me logo Genes that share domains with CHRNA5: view

Function for CHRNA5 Gene

Molecular function for CHRNA5 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,alpha 5 polypeptide,neuronal

Phenotypes From GWAS Catalog for CHRNA5 Gene

Gene Ontology (GO) - Molecular Function for CHRNA5 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 21873635
GO:0005515 protein binding IPI 8663494
GO:0015276 ligand-gated ion channel activity TAS 20438829
GO:0015464 acetylcholine receptor activity IDA,IBA 1542648
genes like me logo Genes that share ontologies with CHRNA5: view
genes like me logo Genes that share phenotypes with CHRNA5: view

Animal Models for CHRNA5 Gene

MGI Knock Outs for CHRNA5:

Animal Model Products

  • Taconic Biosciences Mouse Models for CHRNA5

CRISPR Products

miRNA for CHRNA5 Gene

miRTarBase miRNAs that target CHRNA5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CHRNA5 Gene

Localization for CHRNA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRNA5 Gene

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHRNA5 gene
Compartment Confidence
plasma membrane 5
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Focal adhesion sites (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHRNA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0005892 acetylcholine-gated channel complex IC,IEA 1542648
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CHRNA5: view

Pathways & Interactions for CHRNA5 Gene

genes like me logo Genes that share pathways with CHRNA5: view

Pathways by source for CHRNA5 Gene

Gene Ontology (GO) - Biological Process for CHRNA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0007165 signal transduction IBA,NAS 9009220
GO:0007268 chemical synaptic transmission TAS 9009220
GO:0007271 synaptic transmission, cholinergic IBA 21873635
GO:0007274 neuromuscular synaptic transmission IBA 21873635
genes like me logo Genes that share ontologies with CHRNA5: view

No data available for SIGNOR curated interactions for CHRNA5 Gene

Drugs & Compounds for CHRNA5 Gene

(13) Drugs for CHRNA5 Gene - From: DrugBank, PharmGKB, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanol Approved Pharma Target 3120
Nicotine Approved Pharma Antagonist, Activation, Activator, Target, agonist 1425
Galantamine Approved Pharma Target, allosteric modulator Acetylcholinesterase inhibitor 108
Bupropion Approved Pharma 368
Cocaine Approved, Illicit Pharma 587

(4) Additional Compounds for CHRNA5 Gene - From: IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 CHRNA5: view

Transcripts for CHRNA5 Gene

mRNA/cDNA for CHRNA5 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHRNA5 Gene

No ASD Table

Relevant External Links for CHRNA5 Gene

GeneLoc Exon Structure for
CHRNA5
ECgene alternative splicing isoforms for
CHRNA5

Expression for CHRNA5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CHRNA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CHRNA5 Gene

This gene is overexpressed in Plasma (38.1), Ovary (16.4), and Heart (14.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CHRNA5 Gene



Protein tissue co-expression partners for CHRNA5 Gene

NURSA nuclear receptor signaling pathways regulating expression of CHRNA5 Gene:

CHRNA5

SOURCE GeneReport for Unigene cluster for CHRNA5 Gene:

Hs.1614

Evidence on tissue expression from TISSUES for CHRNA5 Gene

  • Eye(4)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with CHRNA5: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CHRNA5 Gene

Orthologs for CHRNA5 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRNA5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHRNA5 33 32
  • 99.43 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CHRNA5 33 32
  • 89.58 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHRNA5 33
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHRNA5 33
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chrna5 17 33 32
  • 84.46 (n)
rat
(Rattus norvegicus)
Mammalia Chrna5 32
  • 84.07 (n)
dog
(Canis familiaris)
Mammalia CHRNA5 33 32
  • 83.26 (n)
OneToOne
chicken
(Gallus gallus)
Aves CHRNA5 33 32
  • 80.47 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chrna5 32
  • 75.23 (n)
Str.13533 32
zebrafish
(Danio rerio)
Actinopterygii chrna5 33 32
  • 69.29 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta nAcRalpha-7E 34
  • 50 (a)
nAcRalpha-96Aa 34
  • 50 (a)
nAcRalpha-96Ab 34
  • 48 (a)
nAcRalpha-30D 34
  • 46 (a)
nAcR&bgr;-96A 34
  • 42 (a)
nAcR&bgr;-21C 34
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-63 34
  • 43 (a)
ZK973.5 34
  • 35 (a)
acr-13 34
  • 31 (a)
acr-8 34
  • 31 (a)
C04C3.2 34
  • 25 (a)
Species where no ortholog for CHRNA5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 CHRNA5 Gene

ENSEMBL:
Gene Tree for CHRNA5 (if available)
TreeFam:
Gene Tree for CHRNA5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHRNA5: view image

Paralogs for CHRNA5 Gene

(20) SIMAP similar genes for CHRNA5 Gene using alignment to 5 proteins:

  • ACHA5_HUMAN
  • H0YK34_HUMAN
  • H0YM98_HUMAN
  • H7BYM0_HUMAN
  • Q6EWN4_HUMAN
genes like me logo Genes that share paralogs with CHRNA5: view

Variants for CHRNA5 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CHRNA5 Gene

ACHA5_HUMAN-P30532
Genetic variations in CHRNA5 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 CHRNA5 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs16969968 risk-factor, drug-response, Lung cancer susceptibility 2, Smoking as a quantitative trait locus 3, nicotine response - Toxicity/ADR, - 78,590,583(+) G/A coding_sequence_variant, intron_variant, missense_variant
rs1000227050 -- 78,589,606(+) C/G intron_variant
rs1000249068 -- 78,571,467(+) T/C intron_variant
rs1000379646 -- 78,592,514(+) T/C intron_variant
rs1000509773 -- 78,577,195(+) C/A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CHRNA5 Gene

Variant ID Type Subtype PubMed ID
nsv1038816 CNV gain 25217958
nsv1116464 OTHER inversion 24896259
nsv518840 CNV loss 19592680

Variation tolerance for CHRNA5 Gene

Residual Variation Intolerance Score: 67.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.82; 79.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHRNA5 Gene

Human Gene Mutation Database (HGMD)
CHRNA5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHRNA5

Disorders for CHRNA5 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CHRNA5 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
smoking as a quantitative trait locus 3
  • nicotine dependence
substance dependence
autosomal dominant nocturnal frontal lobe epilepsy
  • epilepsy, nocturnal frontal lobe, 1
cocaine dependence
tobacco addiction
  • tobacco addiction, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CHRNA5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CHRNA5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHRNA5 Gene

Publications for CHRNA5 Gene

  1. Association and interaction analysis of variants in CHRNA5/CHRNA3/CHRNB4 gene cluster with nicotine dependence in African and European Americans. (PMID: 19859904) Li MD … Ma JZ (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 23 43 56
  2. Association of genes coding for the alpha-4, alpha-5, beta-2 and beta-3 subunits of nicotinic receptors with cigarette smoking and nicotine dependence. (PMID: 19482438) Etter JF … Bertrand D (Addictive behaviors 2009) 3 23 43 56
  3. Smoking cessation and variations in nicotinic acetylcholine receptor subunits alpha-5, alpha-3, and beta-4 genes. (PMID: 18996504) Breitling LP … Brenner H (Biological psychiatry 2009) 3 23 43 56
  4. Transcription deregulation at the 15q25 locus in association with lung adenocarcinoma risk. (PMID: 19223495) Falvella FS … Dragani TA (Clinical cancer research : an official journal of the American Association for Cancer Research 2009) 3 23 43 56
  5. Why do young women smoke? V. Role of direct and interactive effects of nicotinic cholinergic receptor gene variation on neurocognitive function. (PMID: 17559419) Rigbi A … Lerer B (Genes, brain, and behavior 2008) 3 23 43 56

Products for CHRNA5 Gene

Sources for CHRNA5 Gene