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Aliases for CHRNA6 Gene

Aliases for CHRNA6 Gene

  • Cholinergic Receptor, Nicotinic, Alpha 6 (Neuronal) 2 3
  • Cholinergic Receptor, Nicotinic, Alpha Polypeptide 6 2 3
  • Acetylcholine Receptor, Nicotinic, Alpha 6 (Neuronal) 3
  • Acetylcholine Receptor 2
  • Alpha 6 (Neuronal) 2
  • Nicotinic 2
  • 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 (Neuronal)) is a Protein Coding gene. Diseases associated with CHRNA6 include autosomal dominant nocturnal frontal lobe epilepsy and alcohol dependence. Among its related pathways are CREB Pathway and Nanog in Mammalian ESC Pluripotency. 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRNA6 Gene

Genomics for CHRNA6 Gene

Regulatory Elements for CHRNA6 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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)

    Alternative splice isoforms for CHRNA6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHRNA6 Gene

Proteomics data for CHRNA6 Gene at MOPED

Post-translational modifications for CHRNA6 Gene

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

Other Protein References for CHRNA6 Gene

Antibody Products

No data available for DME Specific Peptides for CHRNA6 Gene

Domains & Families for CHRNA6 Gene

Gene Families for CHRNA6 Gene

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

Gene Ontology (GO) - Molecular Function for CHRNA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004889 acetylcholine-activated cation-selective channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity --
GO:0005515 protein binding --
GO:0015464 acetylcholine receptor activity TAS 8906617
GO:0042166 contributes_to acetylcholine binding IBA --
genes like me logo Genes that share ontologies with CHRNA6: view

Phenotypes for CHRNA6 Gene

MGI mutant phenotypes for CHRNA6:
inferred from 1 alleles
GenomeRNAi human phenotypes for CHRNA6:
genes like me logo Genes that share phenotypes with CHRNA6: view

Animal Models for CHRNA6 Gene

MGI Knock Outs for CHRNA6:

Animal Model Products

miRNA for CHRNA6 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CHRNA6

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for CHRNA6 Gene 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 IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with CHRNA6: view

Pathways & Interactions for CHRNA6 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for CHRNA6 Gene

Gene Ontology (GO) - Biological Process for CHRNA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 8906617
GO:0006811 ion transport --
GO:0006812 cation transport --
GO:0007165 signal transduction TAS 8906617
GO:0007268 synaptic transmission TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mecamylamine Approved Pharma Channel blocker, antagonist 25
Ethanol Approved Pharma Target 1708
Cytisine Approved, Investigational Pharma Target, agonist 0
Galantamine Approved Pharma Target, allosteric modulator 102
Nicotine Approved Pharma Activation, Activator, Target, agonist 923

(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
genes like me logo Genes that share compounds with CHRNA6: view

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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CHRNA6

Flow Cytometry 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
ECgene alternative splicing isoforms for
CHRNA6

Expression for CHRNA6 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for CHRNA6 Gene Hs.103128

genes like me logo Genes that share expression patterns with CHRNA6: view

Protein tissue co-expression partners for CHRNA6 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia CHRNA6 35
  • 84.41 (n)
  • 87.25 (a)
CHRNA6 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHRNA6 35
  • 87.58 (n)
  • 88.66 (a)
CHRNA6 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chrna6 35
  • 81.85 (n)
  • 85.02 (a)
Chrna6 16
Chrna6 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHRNA6 35
  • 99.6 (n)
  • 99.6 (a)
CHRNA6 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chrna6 35
  • 81.95 (n)
  • 84.79 (a)
oppossum
(Monodelphis domestica)
Mammalia CHRNA6 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHRNA6 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHRNA6 35
  • 75.65 (n)
  • 82.32 (a)
CHRNA6 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHRNA6 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495287 35
  • 69.63 (n)
  • 72.21 (a)
zebrafish
(Danio rerio)
Actinopterygii chrna6 35
  • 66.11 (n)
  • 71.55 (a)
chrna6 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta nAcRalpha-30D 37
  • 30 (a)
nAcRalpha-7E 37
  • 55 (a)
nAcRalpha-80B 37
  • 40 (a)
nAcRalpha-96Aa 37
  • 50 (a)
nAcRalpha-96Ab 37
  • 50 (a)
nAcRbgr-21C 37
  • 28 (a)
nAcRbgr-64B 37
  • 43 (a)
nAcRbgr-96A 37
  • 45 (a)
nAcRalpha-7E 35
  • 58.02 (n)
  • 54.11 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000329 35
  • 58.48 (n)
  • 54.73 (a)
worm
(Caenorhabditis elegans)
Secernentea acr-10 37
  • 41 (a)
acr-12 37
  • 39 (a)
acr-13 37
  • 30 (a)
acr-14 37
  • 29 (a)
acr-15 37
  • 32 (a)
acr-17 37
  • 28 (a)
acr-18 37
  • 24 (a)
acr-2 37
  • 39 (a)
acr-22 37
  • 30 (a)
acr-23 37
  • 27 (a)
acr-3 37
  • 40 (a)
acr-5 37
  • 30 (a)
acr-7 37
  • 36 (a)
acr-8 37
  • 33 (a)
deg-3 37
  • 26 (a)
F18G5.4 37
  • 32 (a)
lev-1 37
  • 38 (a)
unc-29 37
  • 39 (a)
unc-38 37
  • 41 (a)
unc-63 37
  • 45 (a)
Y44A6E.1 37
  • 28 (a)
Y57G11C.2 37
  • 25 (a)
Y73F8A.30 37
  • 31 (a)
ZK973.5 37
  • 36 (a)
unc-38 35
  • 55.65 (n)
  • 46.3 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
OneToMany
Species with no ortholog for CHRNA6:
  • 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 MAF
rs892413 -- 42,759,235(+) GACTT(A/C)AAGGC intron-variant
rs1072003 -- 42,764,858(+) GTAAA(C/G)TGGTT intron-variant
rs2196128 -- 42,763,143(+) AACCA(C/T)GAAGC intron-variant
rs2196129 -- 42,763,263(+) GGAGT(C/G)ACATC intron-variant
rs2217732 -- 42,763,303(+) CAACT(A/G)AACAT intron-variant

Variation tolerance for CHRNA6 Gene

Residual Variation Intolerance Score: 25.98% 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

HapMap Linkage Disequilibrium report
CHRNA6
Human Gene Mutation Database (HGMD)
CHRNA6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CHRNA6 Gene

Disorders for CHRNA6 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
autosomal dominant nocturnal frontal lobe epilepsy
  • epilepsy, nocturnal frontal lobe, 1
alcohol dependence
  • alcohol dependence, protection against
nicotine dependence, protection against
  • nicotine dependence
- elite association

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. Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families. (PMID: 12195439) Bonati M.T. … Tenchini M.L. (J. Neurol. 2002) 23 67
  2. Genomic organization and promoter analysis of the human nicotinic acetylcholine receptor alpha6 subunit (CHNRA6) gene: Alu and other elements direct transcriptional repression. (PMID: 12406580) Ebihara M. … Yoshikawa T. (Gene 2002) 23 67
  3. 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 K.J. … Harpold M.M. (J. Mol. Neurosci. 1996) 2 67
  4. A genetic variant in CHRNB3-CHRNA6 increases risk of esophageal squamous cell carcinoma in Chinese populations. (PMID: 25823894) Song Y. … Hu L. (Carcinogenesis 2015) 67
  5. Analysis of rare variations reveals roles of amino acid residues in the N-terminal extracellular domain of nicotinic acetylcholine receptor (nAChR) alpha6 subunit in the functional expression of human alpha6*-nAChRs. (PMID: 24886653) Dash B. … Li M.D. (Mol Brain 2014) 67

Products for CHRNA6 Gene

Sources for CHRNA6 Gene

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