This gene encodes an alpha subunit of neuronal nicotinic acetylcholine receptors. These receptors consist of five subunits and function as ion channels involved in neurotransmission. The encoded protein is a subunit of neuronal nicotinic acetylcholine receptors that mediate dopaminergic neurotransmission and are activated by acetylcholine and exogenous nicotine. Alternatively s... See more...

Aliases for CHRNA6 Gene

Aliases for CHRNA6 Gene

  • Cholinergic Receptor Nicotinic Alpha 6 Subunit 2 3 5
  • Acetylcholine Receptor, Nicotinic, Alpha 6 (Neuronal) 2 3
  • Cholinergic Receptor, Nicotinic, Alpha Polypeptide 6 2 3
  • Cholinergic Receptor, Nicotinic, Alpha 6 (Neuronal) 2 3
  • Neuronal Acetylcholine Receptor Subunit Alpha-6 3 4
  • Cholinergic Receptor, Nicotinic Alpha 6 2 3
  • CHNRA6 3

External Ids for CHRNA6 Gene

Previous GeneCards Identifiers for CHRNA6 Gene

  • GC08M042362
  • GC08M042677
  • GC08M042625
  • GC08M042726
  • GC08M041129

Summaries for CHRNA6 Gene

Entrez Gene Summary for CHRNA6 Gene

  • This gene encodes an alpha subunit of neuronal nicotinic acetylcholine receptors. These receptors consist of five subunits and function as ion channels involved in neurotransmission. The encoded protein is a subunit of neuronal nicotinic acetylcholine receptors that mediate dopaminergic neurotransmission and are activated by acetylcholine and exogenous nicotine. Alternatively spliced transcript variants have been observed for this gene. Single nucleotide polymorphisms in this gene have been associated with both nicotine and alcohol dependence. [provided by RefSeq, Dec 2010]

GeneCards Summary for CHRNA6 Gene

CHRNA6 (Cholinergic Receptor Nicotinic Alpha 6 Subunit) is a Protein Coding gene. Diseases associated with CHRNA6 include Alcohol Dependence and Epileptic Encephalopathy, Early Infantile, 2. 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 acetylcholine receptor activity. An important paralog of this gene is CHRNA3.

UniProtKB/Swiss-Prot Summary for CHRNA6 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 CHRNA6 Gene

Additional gene information for CHRNA6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHRNA6 Gene

Genomics for CHRNA6 Gene

GeneHancer (GH) Regulatory Elements for CHRNA6 Gene

Promoters and enhancers for CHRNA6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J042768 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 500.3 +27.7 27692 1.8 JUND FOS EP300 RELA TOE1 TRIM22 RAD51 TCF12 ZNF316 ZBTB17 lnc-THAP1-2 CHRNA6 piR-32214-647 RF00017-7012
GH08J042797 Promoter 0.4 Ensembl 500.7 -1.2 -1209 0.4 NFATC3 CHRNA6 piR-40154-188 piR-52261-264 CHRNB3 ENSG00000255101 piR-56037-081 RF00017-7012
GH08J042805 Promoter/Enhancer 1.1 Ensembl ENCODE 0.4 -9.4 -9377 0.9 RXRA ZNF217 CTCF USF1 REST RFX1 RAD21 SKI TRIM22 SMC3 ENSG00000255101 HOOK3 RNF170 CHRNA6 piR-56037-081 RF00017-7012
GH08J042803 Promoter/Enhancer 1.1 Ensembl ENCODE 0.4 -7.0 -7004 2 EP300 TRIM22 BCL11A MEF2B NBN ELF1 IRF4 IKZF1 BMI1 NR2F1 ENSG00000255101 HOOK3 RNF170 FNTA CHRNA6 piR-56037-081 RF00017-7012
GH08J042789 Enhancer 0.9 ENCODE 0.4 +6.1 6097 1.7 SP1 GTF2E2 EP300 AFF1 MEF2C CTBP1 TRIM22 ATF2 TAF9B HDAC3 CHRNB3 ENSG00000255101 HOOK3 RNF170 piR-31470-485 CHRNA6 piR-40154-188 RF00017-7012
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHRNA6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHRNA6

Top Transcription factor binding sites by QIAGEN in the CHRNA6 gene promoter:
  • AP-1
  • Bach2
  • Cdc5
  • POU2F1
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2
  • S8
  • STAT3
  • STAT5A

Genomic Locations for CHRNA6 Gene

Genomic Locations for CHRNA6 Gene
chr8:42,752,620-42,796,392
(GRCh38/hg38)
Size:
43,773 bases
Orientation:
Minus strand
chr8:42,607,763-42,651,535
(GRCh37/hg19)
Size:
43,773 bases
Orientation:
Minus strand

Genomic View for CHRNA6 Gene

Genes around CHRNA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRNA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRNA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRNA6 Gene

Proteins for CHRNA6 Gene

  • Protein details for CHRNA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15825-ACHA6_HUMAN
    Recommended name:
    Neuronal acetylcholine receptor subunit alpha-6
    Protein Accession:
    Q15825
    Secondary Accessions:
    • B2R8V4
    • B4DQH1

    Protein attributes for CHRNA6 Gene

    Size:
    494 amino acids
    Molecular mass:
    56898 Da
    Quaternary structure:
    • Neuronal AChR seems to be composed of two different types of subunits: alpha and non-alpha (beta). Interacts with LYPD6 (PubMed:27344019).

    Alternative splice isoforms for CHRNA6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHRNA6 Gene

Post-translational modifications for CHRNA6 Gene

  • Glycosylation at Asn54 and Asn171
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRNA6 Gene

No data available for DME Specific Peptides for CHRNA6 Gene

Domains & Families for CHRNA6 Gene

Gene Families for CHRNA6 Gene

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

Protein Domains for CHRNA6 Gene

Blocks:
  • Nicotinic acetylcholine receptor signature
  • Neurotransmitter-gated ion-channel
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CHRNA6 Gene

GenScript: Design optimal peptide antigens:
  • Neuronal acetylcholine receptor subunit alpha-6 (ACHA6_HUMAN)
  • cDNA FLJ51722, highly similar to Neuronal acetylcholine receptor protein subunit alpha-6 (B4DQH1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15825

UniProtKB/Swiss-Prot:

ACHA6_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-6/CHRNA6 sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-6/CHRNA6 sub-subfamily.
genes like me logo Genes that share domains with CHRNA6: view

Function for CHRNA6 Gene

Molecular function for CHRNA6 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.

Phenotypes From GWAS Catalog for CHRNA6 Gene

Gene Ontology (GO) - Molecular Function for CHRNA6 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 IBA,IEA 21873635
GO:0005515 protein binding IPI 27344019
GO:0015464 contributes_to acetylcholine receptor activity TAS,IBA 21873635
GO:0022848 acetylcholine-gated cation-selective channel activity IEA --
genes like me logo Genes that share ontologies with CHRNA6: view
genes like me logo Genes that share phenotypes with CHRNA6: view

Animal Models for CHRNA6 Gene

MGI Knock Outs for CHRNA6:

miRNA for CHRNA6 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CHRNA6 Gene

Localization for CHRNA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRNA6 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 CHRNA6 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CHRNA6 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 IBA,TAS 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CHRNA6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CHRNA6 Gene

Pathways & Interactions for CHRNA6 Gene

genes like me logo Genes that share pathways with CHRNA6: view

Gene Ontology (GO) - Biological Process for CHRNA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0007165 signal transduction TAS,IBA 21873635
GO:0007268 chemical synaptic transmission TAS,IBA 21873635
GO:0007271 synaptic transmission, cholinergic IBA 21873635
GO:0007274 neuromuscular synaptic transmission IBA 21873635
genes like me logo Genes that share ontologies with CHRNA6: view

No data available for SIGNOR curated interactions for CHRNA6 Gene

Drugs & Compounds for CHRNA6 Gene

(15) Drugs for CHRNA6 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanol Approved Pharma Target 3220
Mecamylamine Approved, Investigational Pharma Channel blocker, antagonist 29
Galantamine Approved Pharma Target, allosteric modulator Acetylcholinesterase inhibitor 108
Nicotine Approved Pharma Antagonist, Activation, Activator, Target, agonist 1469
Varenicline Approved, Investigational Pharma Target, partial agonist α4β2 nAChRs antagonist 312

(4) Additional Compounds for CHRNA6 Gene - From: IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>125</sup>I]alpha-conotoxin MII
alpha-conotoxin MII
Antagonist
alpha-conotoxin MII [H9A, L15A]
Antagonist
alpha-conotoxin PIA
Antagonist

(4) ApexBio Compounds for CHRNA6 Gene

Compound Action Cas Number
(-)-Cotinine 486-56-6
5-Iodo-A-85380 dihydrochloride 1217837-17-6
Adiphenine HCl 50-42-0
α-Conotoxin PIA 669050-68-4
genes like me logo Genes that share compounds with CHRNA6: view

Drug Products

Transcripts for CHRNA6 Gene

mRNA/cDNA for CHRNA6 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHRNA6 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7
SP1: - -
SP2: -
SP3:

Relevant External Links for CHRNA6 Gene

GeneLoc Exon Structure for
CHRNA6

Expression for CHRNA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHRNA6 Gene

mRNA differential expression in normal tissues according to GTEx for CHRNA6 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x10.0), Brain - Substantia nigra (x7.0), and Brain - Cerebellum (x6.9).

Protein differential expression in normal tissues from HIPED for CHRNA6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CHRNA6 Gene



Protein tissue co-expression partners for CHRNA6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHRNA6

SOURCE GeneReport for Unigene cluster for CHRNA6 Gene:

Hs.103128

Evidence on tissue expression from TISSUES for CHRNA6 Gene

  • Nervous system(4.2)
  • Skin(4)
genes like me logo Genes that share expression patterns with CHRNA6: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CHRNA6 Gene

Orthologs for CHRNA6 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRNA6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHRNA6 31 30
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CHRNA6 31 30
  • 87.58 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHRNA6 31
  • 85 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHRNA6 31 30
  • 84.41 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHRNA6 31
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chrna6 30
  • 81.95 (n)
mouse
(Mus musculus)
Mammalia Chrna6 17 31 30
  • 81.85 (n)
chicken
(Gallus gallus)
Aves CHRNA6 31 30
  • 75.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHRNA6 31
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495287 30
  • 69.63 (n)
zebrafish
(Danio rerio)
Actinopterygii chrna6 31 30
  • 66.11 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000329 30
  • 58.48 (n)
fruit fly
(Drosophila melanogaster)
Insecta nAcRalpha-7E 32 30
  • 58.02 (n)
nAcRalpha-96Ab 32
  • 50 (a)
nAcRalpha-96Aa 32
  • 50 (a)
nAcR&bgr;-96A 32
  • 45 (a)
nAcR&bgr;-64B 32
  • 43 (a)
nAcRalpha-80B 32
  • 40 (a)
nAcRalpha-30D 32
  • 30 (a)
nAcR&bgr;-21C 32
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-38 32 30
  • 55.65 (n)
unc-63 32
  • 45 (a)
acr-10 32
  • 41 (a)
acr-3 32
  • 40 (a)
unc-29 32
  • 39 (a)
acr-2 32
  • 39 (a)
acr-12 32
  • 39 (a)
lev-1 32
  • 38 (a)
acr-7 32
  • 36 (a)
ZK973.5 32
  • 36 (a)
acr-8 32
  • 33 (a)
F18G5.4 32
  • 32 (a)
acr-15 32
  • 32 (a)
Y73F8A.30 32
  • 31 (a)
acr-13 32
  • 30 (a)
acr-5 32
  • 30 (a)
acr-22 32
  • 30 (a)
acr-14 32
  • 29 (a)
acr-17 32
  • 28 (a)
Y44A6E.1 32
  • 28 (a)
acr-23 32
  • 27 (a)
deg-3 32
  • 26 (a)
Y57G11C.2 32
  • 25 (a)
acr-18 32
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 54 (a)
OneToMany
Species where no ortholog for CHRNA6 was found in the sources mined by GeneCards:
  • 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)
  • 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 CHRNA6 Gene

ENSEMBL:
Gene Tree for CHRNA6 (if available)
TreeFam:
Gene Tree for CHRNA6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHRNA6: view image

Paralogs for CHRNA6 Gene

(19) SIMAP similar genes for CHRNA6 Gene using alignment to 3 proteins:

  • ACHA6_HUMAN
  • E9PP97_HUMAN
  • L8ECB0_HUMAN
genes like me logo Genes that share paralogs with CHRNA6: view

Variants for CHRNA6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHRNA6 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
733850 Benign: not provided 42,765,177(-) C/G MISSENSE_VARIANT
778030 Benign: not provided 42,756,380(-) C/T SYNONYMOUS_VARIANT
788868 Benign: not provided 42,756,401(-) C/T SYNONYMOUS_VARIANT
790053 Benign: not provided 42,756,467(-) C/T SYNONYMOUS_VARIANT
rs16891583 - p.Asn447Ser

Additional dbSNP identifiers (rs#s) for CHRNA6 Gene

Structural Variations from Database of Genomic Variants (DGV) for CHRNA6 Gene

Variant ID Type Subtype PubMed ID
dgv7186n100 CNV gain 25217958
nsv483102 CNV loss 15286789

Variation tolerance for CHRNA6 Gene

Residual Variation Intolerance Score: 26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.34; 41.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHRNA6 Gene

Human Gene Mutation Database (HGMD)
CHRNA6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHRNA6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRNA6 Gene

Disorders for CHRNA6 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CHRNA6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
alcohol dependence
  • alcoholism
epileptic encephalopathy, early infantile, 2
  • eiee2
autosomal dominant nocturnal frontal lobe epilepsy
  • epilepsy, nocturnal frontal lobe, 1
drug dependence
tobacco addiction
  • tobacco addiction, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CHRNA6

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 CHRNA6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHRNA6 Gene

Publications for CHRNA6 Gene

  1. 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. (PMID: 8906617) Elliott KJ … Harpold MM (Journal of molecular neuroscience : MN 1996) 2 3 4 54
  2. Functional interaction between Lypd6 and nicotinic acetylcholine receptors. (PMID: 27344019) Arvaniti M … Thomsen MS (Journal of neurochemistry 2016) 3 4 54
  3. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 41 54
  4. Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. (PMID: 20418888) Thorgeirsson TE … Stefansson K (Nature genetics 2010) 3 41 54
  5. Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans. (PMID: 20584212) Saccone NL … Bierut LJ (Genes, brain, and behavior 2010) 3 41 54

Products for CHRNA6 Gene

Sources for CHRNA6 Gene