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CHRNA5 (cholinergic receptor nicotinic alpha 5 subunit)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1138
Gene nameGene Name - the full gene name approved by the HGNC.
Cholinergic receptor nicotinic alpha 5 subunit
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CHRNA5
SynonymsGene synonyms aliases
LNCR2
ChromosomeChromosome number
15
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q25.1
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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:0005515 Function Protein binding IPI 8663494, 27344019
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane IBA 21873635
GO:0005892 Component Acetylcholine-gated channel complex IC 1542648
GO:0007165 Process Signal transduction IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Neuroactive ligand-receptor interaction   Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
Highly calcium permeable nicotinic acetylcholine receptors
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928 29767774, 28166215, 26634245, 25101718
Lung carcinoma Non-Small Cell Lung Carcinoma, Small cell carcinoma of lung, Carcinoma of lung rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193 31326317, 28604730, 28604730, 27393504
Lung adenocarcinoma Adenocarcinoma of lung (disorder) rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382 19836008, 28604730
Lung cancer Malignant neoplasm of lung rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 22899653, 18385738
Unknown
Disease name Disease term dbSNP ID References
Anxiety disorder Anxiety Disorders, Anxiety States, Neurotic 29944862, 19220484
Clonic seizures Clonic Seizures 9495872, 14996991
Development disorder Child Development Disorders, Pervasive 28540026
Hypotonic seizures Epileptic drop attack 9495872, 14996991

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