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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
  • Cholinergic Receptor, Nicotinic Alpha 6 2 3
  • Neuronal Acetylcholine Receptor Subunit Alpha-6 3
  • CHNRA6 3

External Ids for CHRNA6 Gene

Previous GeneCards Identifiers for CHRNA6 Gene

  • GC08M042362
  • GC08M042677
  • GC08M042625
  • 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 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy and Alcohol Dependence. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Acetylcholine Binding And Downstream Events. 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 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 , fRNAdb sequence ontologies and piRNA Summary for CHRNA6 Gene

Genomics for CHRNA6 Gene

Regulatory Elements for CHRNA6 Gene

Enhancers for CHRNA6 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
GH08H042789 1.2 Ensembl ENCODE 0.4 +6.1 6097 1 PKNOX1 ATF1 ARNT FEZF1 TCF12 ZNF766 ZNF207 ATF7 RUNX3 NCOA1 CHRNB3 LOC105379396 HOOK3 RNF170 CHRNA6 LOC100288666
GH08H042805 1.1 Ensembl ENCODE 0.4 -9.0 -9010 0 RB1 ARID4B ZNF2 RAD21 RFX5 ZNF143 RUNX3 CREM ZNF654 CEBPB LOC105379396 RNF170 HOOK3 CHRNA6 THAP1
GH08H042803 1 Ensembl ENCODE 0.4 -7.3 -7342 1 HDGF PKNOX1 BACH1 BMI1 EED ATF7 ETV6 RUNX3 IKZF2 CREM LOC105379396 RNF170 HOOK3 CHRNA6 THAP1
GH08H042761 1.1 Ensembl ENCODE 0.3 +34.9 34933 0 HDAC1 TBL1XR1 ARID4B YY1 TCF12 ZNF766 ATF7 CEBPB ELF1 TGIF2 LOC105379396 CHRNA6 LOC100288666
GH08H042768 1.1 Ensembl ENCODE 0.3 +27.6 27647 1 HDGF PKNOX1 JUN BACH1 BMI1 EBF1 BATF RELA FOSL1 ZNF316 CHRNA6 LOC100288666
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CHRNA6 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHRNA6 Gene

Chromosome:
8
Start:
42,752,620 bp from pter
End:
42,796,392 bp from pter
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 posLast=5454 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

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:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0005515 protein binding IPI 27344019
GO:0015276 ligand-gated ion channel activity TAS --
GO:0015464 acetylcholine receptor activity TAS 8906617
GO:0022848 contributes_to acetylcholine-gated cation-selective channel activity IBA,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:

Animal Model Products

CRISPR Products

miRNA for CHRNA6 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CHRNA6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
  • R&D Systems cDNA Clones for CHRNA6 (Nicotinic Acetylcholine R alpha 6/CHRNA6)

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

Gene Ontology (GO) - Cellular Components for CHRNA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005892 acetylcholine-gated channel complex TAS,IBA --
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 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:0006810 transport TAS,IEA 8906617
GO:0006811 ion transport IEA --
GO:0007165 signal transduction TAS 8906617
GO:0007268 chemical synaptic transmission TAS 8906617
GO:0007271 synaptic transmission, cholinergic IBA --
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 2226
Mecamylamine Approved Pharma Channel blocker, antagonist 26
Cytisine Approved, Investigational Pharma Target, agonist 0
Galantamine Approved Pharma Target, allosteric modulator Acetylcholinesterase inhibitor 105
Nicotine Approved Pharma Antagonist, Target, agonist 1148

(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 :
(5) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CHRNA6 Gene

Cholinergic receptor, nicotinic, alpha 6 (neuronal):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CHRNA6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
  • R&D Systems cDNA Clones for CHRNA6 (Nicotinic Acetylcholine R alpha 6/CHRNA6)

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
ECgene alternative splicing isoforms for
CHRNA6

Expression for CHRNA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for CHRNA6 Gene



Protein tissue co-expression partners for CHRNA6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CHRNA6 Gene:

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

Primer Products

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 33 34
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia CHRNA6 33 34
  • 87.58 (n)
oppossum
(Monodelphis domestica)
Mammalia CHRNA6 34
  • 85 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHRNA6 33 34
  • 84.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CHRNA6 34
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chrna6 33
  • 81.95 (n)
mouse
(Mus musculus)
Mammalia Chrna6 33 16 34
  • 81.85 (n)
chicken
(Gallus gallus)
Aves CHRNA6 33 34
  • 75.65 (n)
lizard
(Anolis carolinensis)
Reptilia CHRNA6 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495287 33
  • 69.63 (n)
zebrafish
(Danio rerio)
Actinopterygii chrna6 33 34
  • 66.11 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000329 33
  • 58.48 (n)
fruit fly
(Drosophila melanogaster)
Insecta nAcRalpha-7E 35 33
  • 58.02 (n)
nAcRalpha-96Aa 35
  • 50 (a)
nAcRalpha-96Ab 35
  • 50 (a)
nAcRbgr-96A 35
  • 45 (a)
nAcRbgr-64B 35
  • 43 (a)
nAcRalpha-80B 35
  • 40 (a)
nAcRalpha-30D 35
  • 30 (a)
nAcRbgr-21C 35
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-38 35 33
  • 55.65 (n)
unc-63 35
  • 45 (a)
acr-10 35
  • 41 (a)
acr-3 35
  • 40 (a)
acr-12 35
  • 39 (a)
acr-2 35
  • 39 (a)
unc-29 35
  • 39 (a)
lev-1 35
  • 38 (a)
acr-7 35
  • 36 (a)
ZK973.5 35
  • 36 (a)
acr-8 35
  • 33 (a)
acr-15 35
  • 32 (a)
F18G5.4 35
  • 32 (a)
Y73F8A.30 35
  • 31 (a)
acr-13 35
  • 30 (a)
acr-22 35
  • 30 (a)
acr-5 35
  • 30 (a)
acr-14 35
  • 29 (a)
acr-17 35
  • 28 (a)
Y44A6E.1 35
  • 28 (a)
acr-23 35
  • 27 (a)
deg-3 35
  • 26 (a)
Y57G11C.2 35
  • 25 (a)
acr-18 35
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

Paralogs for CHRNA6 Gene

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

Variants for CHRNA6 Gene

Sequence variations from dbSNP and Humsavar for CHRNA6 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000107126 -- 42,760,088(+) GTCTT(A/T)GCTGT intron-variant
rs1000174694 -- 42,761,075(+) CTGCC(C/T)TGCAG intron-variant
rs1000460628 -- 42,766,065(+) TTACT(A/G)GGTAT intron-variant
rs1000541384 -- 42,760,240(+) ACACG(-/CACACTCATGCACACT)CACAC intron-variant
rs1000773572 -- 42,767,762(+) TTAAG(A/G)CATTT intron-variant

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)

Relevant External Links 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

(4) MalaCards diseases for CHRNA6 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autosomal dominant nocturnal frontal lobe epilepsy
  • epilepsy, nocturnal frontal lobe, 1
alcohol dependence
  • alcohol dependence, protection against
drug dependence
nicotine dependence, protection against
  • nicotine dependence
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CHRNA6

Genetic Association Database (GAD)
CHRNA6
Human Genome Epidemiology (HuGE) Navigator
CHRNA6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHRNA6
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 60
  2. Functional interaction between Lypd6 and nicotinic acetylcholine receptors. (PMID: 27344019) Arvaniti M … Thomsen MS (Journal of neurochemistry 2016) 3 4 60
  3. Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. (PMID: 20418888) Thorgeirsson TE … Stefansson K (Nature genetics 2010) 3 45 60
  4. 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 45 60
  5. 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 45 60

Products for CHRNA6 Gene

Sources for CHRNA6 Gene

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