Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: CHRNA7 (cholinergic receptor nicotinic alpha 7 subunit) Homo sapiens
Analyze
Symbol: CHRNA7
Name: cholinergic receptor nicotinic alpha 7 subunit
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 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: a7 nicotinic acetylcholine receptor; acetylcholine receptor, nicotinic, alpha 7 (neuronal); 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; CHRNA7-2; NACHRA7; neuronal acetylcholine receptor protein, alpha-7 chain; neuronal acetylcholine receptor subunit alpha-7
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381532,030,462 - 32,173,018 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371532,322,686 - 32,462,384 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361530,110,018 - 30,248,541 (+)NCBINCBI36hg18NCBI36
Build 341530,110,017 - 30,248,525NCBI
Celera158,162,865 - 8,292,202 (-)NCBI
Cytogenetic Map15q13.3NCBI
HuRef159,499,328 - 9,603,273 (+)NCBIHuRef
CHM1_11532,312,897 - 32,452,812 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on CHRNA7
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 736847
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.