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CHRNA5 Gene(Protein Coding)

Cholinergic Receptor Nicotinic Alpha 5 Subunit

GCID:
GC15P078565
GIFtS:
62
Genes Participants
UDN Logo

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
  • 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
  • Neuronal Acetylcholine Receptor Subunit Alpha-5 3
  • 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 Lung Cancer Susceptibility 2 and Substance Dependence. Among its related pathways are Activation of Nicotinic Acetylcholine Receptors and Nanog in Mammalian ESC Pluripotency. 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 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRNA5 Gene

Genomics for CHRNA5 Gene

Products:

  1. Regulatory Element

Regulatory Elements for CHRNA5 Gene

Enhancers for CHRNA5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G078539 1.1 ENCODE 83.1 -24.5 -24515 3.0 HDGF PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 CHRNA5 PSMA4 HYKK IREB2
GH15G078460 1.3 FANTOM5 Ensembl ENCODE dbSUPER 43.9 -103.9 -103860 1.4 HNF1A CEBPA HNF4A BCL6 CHRNA5 IREB2 WDR61 CRABP1 ACSBG1 ENSG00000259474
GH15G078564 1 ENCODE 48.5 +0.3 307 2.2 HDGF ARNT ARID4B SIN3A TCF12 ELK1 ZNF143 ZNF263 SP3 REST CHRNA5 PSMA4 HYKK MORF4L1 ADAMTS7 CRABP1 RASGRF1 ENSG00000261762
GH15G078447 1.4 Ensembl ENCODE dbSUPER 33.7 -116.2 -116217 3.6 HDAC1 HDGF PKNOX1 RB1 ZSCAN4 FEZF1 RAD21 YY1 SCRT2 ZNF143 CHRNA5 CRABP1 PSMA4 IREB2 ENSG00000259474
GH15G078436 1.4 ENCODE dbSUPER 33.7 -126.8 -126752 4.2 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 CHRNA5 IREB2 TBC1D2B ENSG00000259792 WDR61 PSMA4 ENSG00000259474
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CHRNA5 on UCSC Golden Path with GeneCards custom track

Promoters for CHRNA5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000079764 380 1401 ARNT ARID4B SIN3A TCF12 ELK1 GATA2 ZNF143 ZNF263 SP3 REST

Transcription factor binding sites by QIAGEN in the CHRNA5 gene promoter:

Genomic Location for CHRNA5 Gene

Chromosome:
15
Start:
78,565,520 bp from pter
End:
78,595,269 bp from pter
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 Structure • Gene Density

RefSeq DNA sequence for CHRNA5 Gene

Proteins for CHRNA5 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for CHRNA5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CHRNA5 Gene

  • Ubiquitination at posLast=119119 and posLast=377377
  • Glycosylation at posLast=155155, Asn183, and posLast=229229
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRNA5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CHRNA5 Gene

Domains & Families for CHRNA5 Gene

Gene Families for CHRNA5 Gene

HGNC:
IUPHAR :

Protein Domains for CHRNA5 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CHRNA5 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for CHRNA5 Gene

GENATLAS Biochemistry:
cholinergic receptor,nicotinic,alpha 5 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 CHRNA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005515 protein binding IPI 8663494
GO:0015276 ligand-gated ion channel activity TAS 20438829
GO:0015464 acetylcholine receptor activity IDA 1542648
GO:0022848 acetylcholine-gated cation-selective channel activity IEA,TAS 20438829
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

miRNA for CHRNA5 Gene

miRTarBase miRNAs that target CHRNA5

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for CHRNA5 (Nicotinic Acetylcholine R alpha 5/CHRNA5)

Flow Cytometry 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

Gene Ontology (GO) - Cellular Components for CHRNA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005892 acetylcholine-gated channel complex IC 1542648
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction 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

Gene Ontology (GO) - Biological Process for CHRNA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA,NAS 1542648
GO:0006811 ion transport IEA --
GO:0007165 signal transduction NAS 9009220
GO:0007268 chemical synaptic transmission TAS 9009220
GO:0007271 synaptic transmission, cholinergic IBA --
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

Products:

  1. Drug

(12) 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 2137
Nicotine Approved Pharma Antagonist, Target, agonist 1103
Galantamine Approved Pharma Target, allosteric modulator 106
Cocaine Approved, Illicit Pharma 511
Varenicline Approved, Investigational Pharma α4β2 nAChRs antagonist 273

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CHRNA5 Gene

(4) REFSEQ mRNAs :
(41) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for CHRNA5 (Nicotinic Acetylcholine R alpha 5/CHRNA5)

Flow Cytometry 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

Products:

  1. Primer

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

mRNA expression in normal human tissues for CHRNA5 Gene
mRNA expression by BioGPS for CHRNA5 GenemRNA expression by GTEx 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, PaxDb, 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

Primer Products

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 34 35
  • 99.43 (n)
cow
(Bos Taurus)
 Mammalia CHRNA5 34 35
  • 89.58 (n)
oppossum
(Monodelphis domestica)
 Mammalia CHRNA5 35
  • 88 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CHRNA5 35
  • 86 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Chrna5 34 16 35
  • 84.46 (n)
rat
(Rattus norvegicus)
 Mammalia Chrna5 34
  • 84.07 (n)
dog
(Canis familiaris)
 Mammalia CHRNA5 34 35
  • 83.26 (n)
chicken
(Gallus gallus)
 Aves CHRNA5 34 35
  • 80.47 (n)
tropical clawed frog
(Silurana tropicalis)
 Amphibia chrna5 34
  • 75.23 (n)
Str.13533 34
zebrafish
(Danio rerio)
 Actinopterygii chrna5 34 35
  • 69.29 (n)
fruit fly
(Drosophila melanogaster)
 Insecta nAcRalpha-7E 36
  • 50 (a)
nAcRalpha-96Aa 36
  • 50 (a)
nAcRalpha-96Ab 36
  • 48 (a)
nAcRalpha-30D 36
  • 46 (a)
nAcRbgr-96A 36
  • 42 (a)
nAcRbgr-21C 36
  • 28 (a)
worm
(Caenorhabditis elegans)
 Secernentea unc-63 36
  • 43 (a)
ZK973.5 36
  • 35 (a)
acr-13 36
  • 31 (a)
acr-8 36
  • 31 (a)
C04C3.2 36
  • 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)

Paralogs for CHRNA5 Gene

Paralogs for CHRNA5 Gene

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

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 Sequence Context AA Info Type
rs16969968 other 78,590,583(+) CGCTC(A/G)ATTCT intron-variant, nc-transcript-variant, reference, missense
rs1000227050 -- 78,589,606(+) CAGTT(C/G)TAGTA intron-variant
rs1000249068 -- 78,571,467(+) TTCCA(C/T)AATAT intron-variant
rs1000379646 -- 78,592,514(+) CTTCT(C/T)TTTCC intron-variant
rs1000509773 -- 78,577,195(+) CCCCT(A/C)AGAGC 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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
lung cancer susceptibility 2
  • nicotine dependence
substance dependence
cocaine dependence
nicotine dependence, protection against
  • nicotine dependence
cannabis abuse
  • marijuana abuse
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CHRNA5

Genetic Association Database (GAD)
CHRNA5
Human Genome Epidemiology (HuGE) Navigator
CHRNA5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHRNA5
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 M.D. … Ma J.Z. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 22 46 64
  2. Smoking cessation and variations in nicotinic acetylcholine receptor subunits alpha-5, alpha-3, and beta-4 genes. (PMID: 18996504) Breitling L.P. … Brenner H. (Biol. Psychiatry 2009) 3 22 46 64
  3. Transcription deregulation at the 15q25 locus in association with lung adenocarcinoma risk. (PMID: 19223495) Falvella F.S. … Dragani T.A. (Clin. Cancer Res. 2009) 3 22 46 64
  4. 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 J.F. … Bertrand D. (Addict Behav 2009) 3 22 46 64
  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 Behav. 2008) 3 22 46 64

Products for CHRNA5 Gene

Sources for CHRNA5 Gene

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