QuickView for CHRNA7;jsessionid=B38C66AED0AEE81134817A17929C2F3E (gene)

Gene Symbol:

CHRNA7 Homo sapiens

Full name:

cholinergic receptor nicotinic alpha 7 subunit

Synonyms:

CHRNA7-2, NACHRA7, neuronal acetylcholine receptor subunit alpha-7, a7 nicotinic acetylcholine receptor, alpha 7 neuronal nicotinic acetylcholine receptor, alpha-7 nicotinic cholinergic receptor subunit, cholinergic receptor, nicotinic alpha 7, cholinergic receptor, nicotinic, alpha 7 (neuronal), cholinergic receptor, nicotinic, alpha polypeptide 7, neuronal acetylcholine receptor protein, alpha-7 chain

Genomic Location:

Chr 15: 30110018-30248541

Description:

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 ...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Bos taurus ,  Gallus gallus ,  Danio rerio ,  Pan troglodytes ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

CACGTG_MYC_Q2 ,  CAGGTG_E12_Q6 ,  CTTTAAR_UNKNOWN

Cytogenetic Map:

15q13.3

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