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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 Alcohol Dependence and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy. Among its related pathways are Transmission across Chemical Synapses and Circadian entrainment. 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

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
GH08F042801 0.6 Ensembl 0.8 -4.8 -4809 0.4 SOX5 DRAP1 TFE3 NFIA SAP130 SP5 HLF HMG20A PPARG HHEX CHRNB3 CHRNA6 THAP1
GH08F042794 0.9 Ensembl 0.8 +2.1 2092 0.2 BCOR SMARCA5 NRF1 LOC105379396 CHRNA6 LOC100288666
GH08F042795 0.2 Ensembl 0.8 -0.4 -410 2.0 GLIS1 NFYB ZBTB33 ZNF24 ZIC2 CHRNB3 LOC105379396 CHRNA6 THAP1
GH08F042788 0.8 Ensembl ENCODE 0.4 +6.5 6492 2.6 TBP HDAC1 PKNOX1 ATF1 TBL1XR1 ARNT NFRKB FEZF1 ETV6 CREM CHRNB3 LOC105379396 HOOK3 MIR4469 RNF170 CHRNA6 LOC100288666
GH08F042802 0.8 Ensembl ENCODE 0.4 -8.0 -8009 3.2 HDGF PKNOX1 MLX ARID4B ZNF2 ZNF48 ZNF143 SP5 MXD4 MIER2 LOC105379396 MIR4469 RNF170 HOOK3 CHRNA6 THAP1
- Elite enhancer/Elite enhancer-gene association Download Table
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).

    Alternative splice isoforms for CHRNA6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHRNA6 Gene

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

  • Abcam antibodies for CHRNA6

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:0005216 ion channel activity IEA --
GO:0005230 extracellular ligand-gated ion channel activity IEA --
GO:0015276 ligand-gated ion channel activity TAS --
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
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

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for CHRNA6 (Nicotinic Acetylcholine R alpha 6/CHRNA6)

Flow Cytometry 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
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,TAS --
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

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 IEA,TAS 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 2043
Mecamylamine Approved Pharma Channel blocker, antagonist 25
Cytisine Approved, Investigational Pharma Target, agonist 0
Galantamine Approved Pharma Target, allosteric modulator 105
Nicotine Approved Pharma Antagonist, Target, agonist 1050

(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

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:

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for CHRNA6 (Nicotinic Acetylcholine R alpha 6/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



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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia CHRNA6 34 35
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia CHRNA6 34 35
  • 87.58 (n)
oppossum
(Monodelphis domestica)
Mammalia CHRNA6 35
  • 85 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHRNA6 34 35
  • 84.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CHRNA6 35
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chrna6 34
  • 81.95 (n)
mouse
(Mus musculus)
Mammalia Chrna6 34 16 35
  • 81.85 (n)
chicken
(Gallus gallus)
Aves CHRNA6 34 35
  • 75.65 (n)
lizard
(Anolis carolinensis)
Reptilia CHRNA6 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495287 34
  • 69.63 (n)
zebrafish
(Danio rerio)
Actinopterygii chrna6 34 35
  • 66.11 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000329 34
  • 58.48 (n)
fruit fly
(Drosophila melanogaster)
Insecta nAcRalpha-7E 36 34
  • 58.02 (n)
nAcRalpha-96Aa 36
  • 50 (a)
nAcRalpha-96Ab 36
  • 50 (a)
nAcRbgr-96A 36
  • 45 (a)
nAcRbgr-64B 36
  • 43 (a)
nAcRalpha-80B 36
  • 40 (a)
nAcRalpha-30D 36
  • 30 (a)
nAcRbgr-21C 36
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-38 36 34
  • 55.65 (n)
unc-63 36
  • 45 (a)
acr-10 36
  • 41 (a)
acr-3 36
  • 40 (a)
acr-12 36
  • 39 (a)
acr-2 36
  • 39 (a)
unc-29 36
  • 39 (a)
lev-1 36
  • 38 (a)
acr-7 36
  • 36 (a)
ZK973.5 36
  • 36 (a)
acr-8 36
  • 33 (a)
acr-15 36
  • 32 (a)
F18G5.4 36
  • 32 (a)
Y73F8A.30 36
  • 31 (a)
acr-13 36
  • 30 (a)
acr-22 36
  • 30 (a)
acr-5 36
  • 30 (a)
acr-14 36
  • 29 (a)
acr-17 36
  • 28 (a)
Y44A6E.1 36
  • 28 (a)
acr-23 36
  • 27 (a)
deg-3 36
  • 26 (a)
Y57G11C.2 36
  • 25 (a)
acr-18 36
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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
rs10087172 -- 42,761,725(+) ACATC(C/T)CTGCC intron-variant
rs10108797 -- 42,769,931(+) gagta(C/G)ctggg upstream-variant-2KB
rs10109040 -- 42,770,170(+) GAACT(C/G)AAGAA upstream-variant-2KB
rs10109429 -- 42,763,247(+) AGAAT(C/T)ACAGT intron-variant
rs10109864 -- 42,758,373(+) GTTTT(G/T)TTTTC 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

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

Disorder Aliases PubMed IDs
alcohol dependence
  • alcohol dependence, protection against
autosomal dominant nocturnal frontal lobe epilepsy
  • epilepsy, nocturnal frontal lobe, 1
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 K.J. … Harpold M.M. (J. Mol. Neurosci. 1996) 2 3 4 64
  2. Prenatal exposure to maternal cigarette smoking interacts with a polymorphism in the alpha6 nicotinic acetylcholine receptor gene to influence drug use and striatum volume in adolescence. (PMID: 20029407) Lotfipour S. … Paus T. (Mol. Psychiatry 2010) 3 46 64
  3. Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. (PMID: 20418888) Thorgeirsson T.E. … Stefansson K. (Nat. Genet. 2010) 3 46 64
  4. Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans. (PMID: 20584212) Saccone N.L. … Bierut L.J. (Genes Brain Behav. 2010) 3 46 64
  5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 46 64

Products for CHRNA6 Gene

Sources for CHRNA6 Gene

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