Gene Gene information from NCBI Gene database.
Entrez ID 1138
Gene name Cholinergic receptor nicotinic alpha 5 subunit
Gene symbol CHRNA5
Synonyms (NCBI Gene)
LNCR2
Chromosome 15
Chromosome location 15q25.1
Summary 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.
1
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.
359
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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ASCL1 Unknown 20124469
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
118505 1959 ENSG00000169684
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
9
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Benign rs79109919 RCV005904621
Lung adenocarcinoma Uncertain significance rs2542776288 RCV003129622
Lung cancer susceptibility 2 drug response rs16969968 RCV000019049
nicotine response - Toxicity drug response rs16969968 RCV001787807
Associations from Text MiningDisease 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