Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1138
Gene name Gene Name - the full gene name approved by the HGNC.
Cholinergic receptor nicotinic alpha 5 subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CHRNA5
Synonyms (NCBI Gene) Gene synonyms aliases
LNCR2
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q25.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of sepa
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs16969968 G>A Risk-factor, drug-response Intron variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021766 hsa-miR-132-3p Microarray 17612493
MIRT047593 hsa-miR-10a-5p CLASH 23622248
MIRT039616 hsa-miR-615-3p CLASH 23622248
MIRT891788 hsa-miR-1184 CLIP-seq
MIRT891789 hsa-miR-122 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
ASCL1 Unknown 20124469
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005230 Function Extracellular ligand-gated monoatomic ion channel activity IEA
GO:0005515 Function Protein binding IPI 8663494, 27344019, 33961781
GO:0005886 Component Plasma membrane IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
118505 1959 ENSG00000169684
Protein
UniProt ID P30532
Protein name Neuronal acetylcholine receptor subunit alpha-5
Protein function Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02931 Neur_chan_LBD 47 250 Neurotransmitter-gated ion-channel ligand binding domain Family
PF02932 Neur_chan_memb 257 381 Neurotransmitter-gated ion-channel transmembrane region Family
PF02932 Neur_chan_memb 368 447 Neurotransmitter-gated ion-channel transmembrane region Family
Sequence
Sequence length 468
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Neuroactive ligand-receptor interaction   Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
Highly calcium permeable nicotinic acetylcholine receptors
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dental caries Dental caries N/A N/A GWAS
Lung adenocarcinoma Lung adenocarcinoma, Lung adenocarcinoma (conditioned on cigarettes per day) N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 32257438
Adenocarcinoma of Lung Associate 20554942, 24686516, 25233467, 28181565, 29486777, 32257438
Alcoholism Associate 22438940, 24588897
Anxiety Associate 23689675
Aortic Aneurysm Familial Abdominal 1 Associate 26952864
Asthma Associate 27187070
Attention Deficit and Disruptive Behavior Disorders Associate 26228411
Bipolar Disorder Associate 23196875
Brain Diseases Associate 34206324
Breast Neoplasms Associate 30543688