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The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
CHRNA7 (Cholinergic Receptor Nicotinic Alpha 7 Subunit) is a Protein Coding gene. Diseases associated with CHRNA7 include Epilepsy, Idiopathic Generalized 7 and Chromosome 15Q13.3 Deletion Syndrome. Among its related pathways are Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction) and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and amyloid-beta binding. An important paralog of this gene is CHRFAM7A.
Alpha 7 (alpha7) is a subunit of the neuronal nicotinic receptor that can combine to form homomeric receptors. The alpha7 nAChR is prominent in the hippocampus, found on GABAergic interneurons of stratum oriens and stratum radiatum, and on pyramidal neurones.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001540 | amyloid-beta binding | IPI | 10681545 |
GO:0004888 | transmembrane signaling receptor activity | IEA | -- |
GO:0005216 | ion channel activity | IDA,IEA | 17898229 |
GO:0005230 | contributes_to extracellular ligand-gated ion channel activity | IEA,IBA | 21873635 |
GO:0005262 | calcium channel activity | TAS | 11404397 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS,IEA | -- |
GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
GO:0005892 | acetylcholine-gated channel complex | IDA | 8906617 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA,NAS | 8145738 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Postsynaptic nicotinic acetylcholine receptors | ||
2 | Transmission across Chemical Synapses |
.62
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|
3 | Calcium signaling pathway | ||
4 | Drug metabolism - cytochrome P450 | ||
5 | Circadian entrainment |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000187 | activation of MAPK activity | IDA | 10771023 |
GO:0001666 | response to hypoxia | IDA | 12189247 |
GO:0001934 | positive regulation of protein phosphorylation | ISS | -- |
GO:0006811 | ion transport | NAS,IEA | 8906617 |
GO:0006816 | calcium ion transport | IMP | 10771023 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Galantamine | Approved | Pharma | Target, allosteric modulator | Acetylcholinesterase inhibitor | 108 | |
Mecamylamine | Approved, Investigational | Pharma | Channel blocker, Target, antagonist | 28 | ||
Nicotine | Approved | Pharma | Antagonist, Activation, Activator, Target, agonist, antagonist | 1425 | ||
Ethanol | Approved | Pharma | Target | 3120 | ||
Butabarbital | Approved, Illicit | Pharma | Target, antagonist | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
alpha-bungarotoxin |
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Antagonist |
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[<sup>125</sup>I]alpha-bungarotoxin |
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[<sup>3</sup>H]alpha-bungarotoxin |
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alpha-conotoxin ArIB |
|
Antagonist |
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alpha-conotoxin ImI |
|
Antagonist |
|
|
Compound | Action | Cas Number |
---|---|---|
DMAB-anabaseine dihydrochloride | Partial agonist at alpha7 nAChR; also alpha4beta2 antagonist | 154149-38-9 |
LY 2087101 | Potentiator of alpha7 nAChRs | 913186-74-0 |
PNU 282987 | Selective alpha7 nAChR agonist | 123464-89-1 |
SEN 12333 | alpha7 nAChR agonist; histamine H3 antagonist | 874450-44-9 |
Compound | Action | Cas Number |
---|---|---|
(-)-Lobeline hydrochloride | 134-63-4 | |
(+)-Anabasine hydrochloride | 53912-89-3 | |
(+)-Tubocurarine chloride | 57-94-3 | |
(±)-Anatoxin A fumarate | 1219922-30-1 | |
(±)-Epibatidine | dopamine receptor antagonist | 148152-66-3 |
1-Acetyl-4-methylpiperazine hydrochloride | 144205-68-5 | |
3-Bromocytisine | 207390-14-5 | |
4-Acetyl-1,1-dimethylpiperazinium iodide | 75667-84-4 | |
5-Iodo-A-85380, 5-trimethylstannyl N-BOC derivative | 213766-21-3 | |
A 582941 | Selective α7 nAChR partial agonist | 848591-90-2 |
A 844606 | α7 nAChR partial agonist | 861119-08-6 |
Adiphenine HCl | 50-42-0 | |
AR-R 17779 hydrochloride | Selective agonist of α7 nAChRs | 178419-42-6 |
Benzoquinonium dibromide | inhibitor of AChR and ganglion | 311-09-1 |
bPiDDB | 525596-66-1 | |
Carbamoylcholine chloride | 51-83-2 | |
Catestatin | 142211-96-9 | |
Catharanthine | 2468-21-5 | |
CCMI | 917837-54-8 | |
Chlorisondamine diiodide | 96750-66-2 | |
COG 133 | ApoE mimetic peptide | 514200-66-9 |
Desformylflustrabromine hydrochloride | 951322-11-5 | |
Dihydro-β-erythroidine hydrobromide | antagonist of nAChRs | 29734-68-7 |
DMAB-anabaseine dihydrochloride | 154149-38-9 | |
EVP-6124 | NAChRs agonist | 550999-75-2 |
EVP-6124 hydrochloride | Alpha7 nAChR agonist | 550999-74-1 |
Galanthamine | Acetylcholinesterase inhibitor | 357-70-0 |
GTS 21 dihydrochloride | nAChRs agonist, novel | 156223-05-1 |
Ivermectin | NAChR/purinergic P2X4 receptor modulator | 70288-86-7 |
Ivermectin B1a-d2 | ||
LX-1031 | TPH inhibitor | 945976-76-1 |
LY 2087101 | 913186-74-0 | |
Mecamylamine hydrochloride | 826-39-1 | |
Methyllycaconitine citrate | 112825-05-5 | |
MG 624 | 77257-42-2 | |
NS 1738 | 501684-93-1 | |
PHA 543613 hydrochloride | 478149-53-0 | |
PHA 568487 | 527680-57-5 | |
PNU 282987 | 123464-89-1 | |
PNU-120596 | α7 nAChR modulator,positive allosteric | 501925-31-1 |
Rivastigmine | Cholinesterase inhibitor | 123441-03-2 |
RJR 2429 dihydrochloride | 1021418-53-0 | |
RJR-2403 | Nicotinic receptor agonist,highly selective | 15585-43-0 |
RJR-2403 hemioxalate | Neuronal nicotinic receptor agonist | |
RJR-2403 oxalate | Nicotinic receptor agonist | 220662-95-3 |
RuBi-Nicotine | 1256362-30-7 | |
S 24795 | 304679-75-2 | |
Sazetidine A dihydrochloride | 1197329-42-2 | |
SEN 12333 | 874450-44-9 | |
SIB 1553A hydrochloride | 191611-89-9 | |
SR 16584 | 1150153-86-8 | |
TC 1698 dihydrochloride | 787587-06-8 | |
TC 2559 difumarate | 212332-35-9 | |
TMPH hydrochloride | 849461-91-2 | |
TQS | 353483-92-8 | |
UB 165 fumarate | 200432-86-6 | |
vinblastine | 865-21-4 | |
α-Bungarotoxin | 11032-79-4 | |
α-Conotoxin AuIB | 216299-21-7 | |
α-Conotoxin EI | 170663-33-9 | |
α-Conotoxin PnIA | 705300-84-1 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | CHRNA7 32 |
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dog (Canis familiaris) |
Mammalia | CHRNA7 33 32 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | -- 33 |
|
OneToMany | |
mouse (Mus musculus) |
Mammalia | Chrna7 17 33 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
OneToMany | |
cow (Bos Taurus) |
Mammalia | CHRNA7 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Chrna7 32 |
|
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chicken (Gallus gallus) |
Aves | CHRNA7 33 32 |
|
OneToMany | |
lizard (Anolis carolinensis) |
Reptilia | -- 33 |
|
OneToMany | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100493611 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | CABZ01088685.1 33 |
|
ManyToMany | |
CABZ01069081.1 33 |
|
ManyToMany | |||
chrna7 33 32 32 |
|
ManyToMany | |||
si:ch211-39a7.1 33 |
|
ManyToMany | |||
si:ch211-256e16.6 33 |
|
ManyToMany | |||
BX255960.1 33 |
|
ManyToMany | |||
CABZ01073083.1 33 |
|
ManyToMany | |||
fruit fly (Drosophila melanogaster) |
Insecta | nAcRalpha-18C 34 |
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nAcRalpha-34E 33 34 32 |
|
ManyToMany | |||
nAcRalpha-7E 34 |
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nAcRalpha-96Aa 34 |
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nAcRalpha-30D 33 34 |
|
ManyToMany | |||
gfA 33 |
|
ManyToMany | |||
nAcRalpha-96Ab 34 |
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African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008588 32 |
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worm (Caenorhabditis elegans) |
Secernentea | acr-16 33 34 32 |
|
ManyToMany | |
acr-11 33 34 |
|
ManyToMany | |||
acr-19 33 34 |
|
ManyToMany | |||
eat-2 33 |
|
ManyToMany | |||
acr-9 33 34 |
|
ManyToMany | |||
F18G5.4 34 |
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Y73F8A.30 34 |
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acr-15 33 34 |
|
ManyToMany | |||
acr-25 33 |
|
ManyToMany | |||
acr-7 33 34 |
|
ManyToMany | |||
acr-14 33 34 |
|
ManyToMany | |||
acr-21 33 |
|
ManyToMany | |||
unc-29 34 |
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acr-12 34 |
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acr-10 33 34 |
|
ManyToMany | |||
acr-22 34 |
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ZK973.5 34 |
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acr-8 34 |
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Y57G11C.2 34 |
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C04C3.2 34 |
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lgc-4 33 |
|
ManyToMany | |||
lgc-12 33 |
|
ManyToMany | |||
acr-18 33 34 |
|
ManyToMany | |||
deg-3 33 34 |
|
ManyToMany | |||
acr-17 33 34 |
|
ManyToMany | |||
des-2 33 |
|
ManyToMany | |||
lgc-11 33 |
|
ManyToMany | |||
lgc-8 33 |
|
ManyToMany | |||
acr-20 33 |
|
ManyToMany | |||
lgc-7 33 |
|
ManyToMany | |||
acr-23 33 |
|
ManyToMany | |||
acr-24 33 |
|
ManyToMany | |||
lgc-9 33 |
|
ManyToMany | |||
pbo-6 33 |
|
ManyToMany | |||
lgc-10 33 |
|
ManyToMany | |||
acr-5 33 34 |
|
ManyToMany | |||
pbo-5 33 |
|
ManyToMany | |||
lgc-6 33 |
|
ManyToMany | |||
lgc-18 33 |
|
ManyToMany | |||
lgc-17 33 |
|
ManyToMany | |||
lgc-16 33 |
|
ManyToMany | |||
lgc-13 33 |
|
ManyToMany | |||
lgc-14 33 |
|
ManyToMany | |||
lgc-30 33 |
|
ManyToMany | |||
lgc-31 33 |
|
ManyToMany | |||
lgc-19 33 |
|
ManyToMany | |||
lgc-29 33 |
|
ManyToMany | |||
lgc-15 33 |
|
ManyToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany |
SNP ID | Clin | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1566846736 | pathogenic, Epilepsy, idiopathic generalized 7 | 32,111,789(+) | G/A | genic_upstream_transcript_variant, intron_variant, splice_acceptor_variant | |
rs770538645 | uncertain-significance, not provided | 32,030,932(+) | C/G | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, stop_gained | |
rs749361514 | uncertain-significance, not specified | 32,030,931(+) | A/G | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
rs1000024280 | -- | 32,053,797(+) | G/A/T | genic_upstream_transcript_variant, intron_variant | |
rs1000028368 | -- | 32,136,514(+) | A/C/G | genic_upstream_transcript_variant, intron_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
epilepsy, idiopathic generalized 7 |
|
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chromosome 15q13.3 deletion syndrome |
|
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intermittent explosive disorder |
|
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autosomal dominant nocturnal frontal lobe epilepsy |
|
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rasmussen encephalitis |
|
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