CHRNA7 (cholinergic receptor nicotinic alpha 7 subunit)

Gene

• Entrez ID: 1139
• Gene name: Cholinergic receptor nicotinic alpha 7 subunit
• Gene symbol: CHRNA7
• Synonyms (NCBI Gene): CHRNA7-2, NACHRA7, nAChR7
• Chromosome: 15
• Chromosome location: 15q13.3
• Summary: 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 structu

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016843	hsa-miR-335-5p	Microarray	18185580
MIRT891887	hsa-miR-1827	CLIP-seq
MIRT891888	hsa-miR-186	CLIP-seq
MIRT891889	hsa-miR-3133	CLIP-seq
MIRT891890	hsa-miR-3160-3p	CLIP-seq
MIRT891891	hsa-miR-3622b-5p	CLIP-seq
MIRT891892	hsa-miR-3689d	CLIP-seq
MIRT891893	hsa-miR-3929	CLIP-seq
MIRT891894	hsa-miR-4327	CLIP-seq
MIRT891895	hsa-miR-4419b	CLIP-seq
MIRT891896	hsa-miR-4459	CLIP-seq
MIRT891897	hsa-miR-4478	CLIP-seq
MIRT891898	hsa-miR-4487	CLIP-seq
MIRT891899	hsa-miR-4633-3p	CLIP-seq
MIRT891900	hsa-miR-4649-3p	CLIP-seq
MIRT891901	hsa-miR-4695-3p	CLIP-seq
MIRT891902	hsa-miR-4722-5p	CLIP-seq
MIRT891903	hsa-miR-4723-5p	CLIP-seq
MIRT891904	hsa-miR-4768-3p	CLIP-seq
MIRT891905	hsa-miR-4787-5p	CLIP-seq
MIRT891906	hsa-miR-485-5p	CLIP-seq
MIRT891907	hsa-miR-558	CLIP-seq
MIRT891908	hsa-miR-665	CLIP-seq
MIRT891909	hsa-miR-940	CLIP-seq
MIRT891910	hsa-miR-3614-3p	CLIP-seq
MIRT891911	hsa-miR-3670	CLIP-seq
MIRT891912	hsa-miR-409-3p	CLIP-seq
MIRT891913	hsa-miR-4252	CLIP-seq
MIRT891914	hsa-miR-4452	CLIP-seq
MIRT891915	hsa-miR-4486	CLIP-seq
MIRT891916	hsa-miR-4649-5p	CLIP-seq
MIRT891917	hsa-miR-4775	CLIP-seq
MIRT891918	hsa-miR-4793-3p	CLIP-seq
MIRT891919	hsa-miR-508-5p	CLIP-seq
MIRT891920	hsa-miR-548p	CLIP-seq
MIRT891921	hsa-miR-590-3p	CLIP-seq
MIRT891922	hsa-miR-653	CLIP-seq
MIRT891923	hsa-miR-661	CLIP-seq
MIRT891924	hsa-miR-766	CLIP-seq
MIRT1964323	hsa-miR-1908	CLIP-seq
MIRT1964324	hsa-miR-3137	CLIP-seq
MIRT891891	hsa-miR-3622b-5p	CLIP-seq
MIRT1964325	hsa-miR-4645-5p	CLIP-seq
MIRT1964326	hsa-miR-4662a-5p	CLIP-seq
MIRT1964327	hsa-miR-4673	CLIP-seq
MIRT1964328	hsa-miR-4676-5p	CLIP-seq
MIRT1964329	hsa-miR-4755-3p	CLIP-seq
MIRT1964330	hsa-miR-4767	CLIP-seq
MIRT1964331	hsa-miR-566	CLIP-seq
MIRT1964332	hsa-miR-575	CLIP-seq
MIRT1964333	hsa-miR-663	CLIP-seq
MIRT2200453	hsa-miR-1184	CLIP-seq
MIRT891887	hsa-miR-1827	CLIP-seq
MIRT891890	hsa-miR-3160-3p	CLIP-seq
MIRT891891	hsa-miR-3622b-5p	CLIP-seq
MIRT2200454	hsa-miR-3668	CLIP-seq
MIRT891892	hsa-miR-3689d	CLIP-seq
MIRT891913	hsa-miR-4252	CLIP-seq
MIRT891896	hsa-miR-4459	CLIP-seq
MIRT891915	hsa-miR-4486	CLIP-seq
MIRT891898	hsa-miR-4487	CLIP-seq
MIRT891900	hsa-miR-4649-3p	CLIP-seq
MIRT891916	hsa-miR-4649-5p	CLIP-seq
MIRT891902	hsa-miR-4722-5p	CLIP-seq
MIRT891904	hsa-miR-4768-3p	CLIP-seq
MIRT891918	hsa-miR-4793-3p	CLIP-seq
MIRT891919	hsa-miR-508-5p	CLIP-seq
MIRT891920	hsa-miR-548p	CLIP-seq
MIRT891907	hsa-miR-558	CLIP-seq
MIRT2200455	hsa-miR-629	CLIP-seq
MIRT2200456	hsa-miR-642b	CLIP-seq
MIRT891923	hsa-miR-661	CLIP-seq
MIRT891908	hsa-miR-665	CLIP-seq
MIRT891924	hsa-miR-766	CLIP-seq
MIRT891909	hsa-miR-940	CLIP-seq
MIRT2503256	hsa-miR-1272	CLIP-seq
MIRT2503257	hsa-miR-3613-3p	CLIP-seq
MIRT2503258	hsa-miR-3675-3p	CLIP-seq
MIRT1964326	hsa-miR-4662a-5p	CLIP-seq
MIRT1964328	hsa-miR-4676-5p	CLIP-seq
MIRT2503259	hsa-miR-4684-5p	CLIP-seq
MIRT1964329	hsa-miR-4755-3p	CLIP-seq
MIRT2503260	hsa-miR-548c-3p	CLIP-seq
MIRT1964332	hsa-miR-575	CLIP-seq
MIRT2503256	hsa-miR-1272	CLIP-seq
MIRT2503257	hsa-miR-3613-3p	CLIP-seq
MIRT2503258	hsa-miR-3675-3p	CLIP-seq
MIRT1964326	hsa-miR-4662a-5p	CLIP-seq
MIRT1964328	hsa-miR-4676-5p	CLIP-seq
MIRT2503259	hsa-miR-4684-5p	CLIP-seq
MIRT2678154	hsa-miR-4786-5p	CLIP-seq
MIRT2678155	hsa-miR-4793-5p	CLIP-seq
MIRT2678156	hsa-miR-4794	CLIP-seq
MIRT2503260	hsa-miR-548c-3p	CLIP-seq
MIRT1964332	hsa-miR-575	CLIP-seq
MIRT2678157	hsa-miR-769-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	IPI	10681545
GO:0001666	Process	Response to hypoxia	IDA	12189247
GO:0004888	Function	Transmembrane signaling receptor activity	IDA	16968406
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005216	Function	Monoatomic ion channel activity	IDA	17898229
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005262	Function	Calcium channel activity	TAS	11404397
GO:0005515	Function	Protein binding	IPI	10681545, 26905431, 27344019, 32783947, 32814053
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	16968406
GO:0005886	Component	Plasma membrane	IDA	12508119, 16280133, 27789755
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005892	Component	Acetylcholine-gated channel complex	IBA
GO:0005892	Component	Acetylcholine-gated channel complex	IDA	8906617, 38161283
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	NAS	8906617
GO:0006816	Process	Calcium ion transport	IBA
GO:0006816	Process	Calcium ion transport	IDA	8145738
GO:0006816	Process	Calcium ion transport	IMP	10771023
GO:0006874	Process	Intracellular calcium ion homeostasis	IMP	16280133
GO:0007165	Process	Signal transduction	IDA	8906617
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	1406630, 9346484, 25038658, 34721373
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007268	Process	Chemical synaptic transmission	IDA	8145738
GO:0007271	Process	Synaptic transmission, cholinergic	IEA
GO:0007611	Process	Learning or memory	ISS
GO:0007613	Process	Memory	ISS
GO:0007613	Process	Memory	NAS	10681545
GO:0007614	Process	Short-term memory	ISS
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	16280133, 17498763
GO:0015464	Function	Acetylcholine receptor activity	IDA	8906617
GO:0015643	Function	Toxic substance binding	IDA	12508119
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	8145738, 8906617
GO:0017081	Function	Chloride channel regulator activity	IDA	8145738
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IBA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IDA	8145738, 8906617, 12508119, 18387948, 21718690, 33735609
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	ISS
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IDA	1406630, 9346484, 25038658, 34721373
GO:0030425	Component	Dendrite	ISS
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IDA	12508119
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IDA	12508119
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IMP	12508119
GO:0034220	Process	Monoatomic ion transmembrane transport	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IDA	21718690
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034703	Component	Cation channel complex	IDA	38161283
GO:0035094	Process	Response to nicotine	IDA	8145738, 12189247
GO:0035094	Process	Response to nicotine	ISS
GO:0042166	Function	Acetylcholine binding	IDA	8145738
GO:0042391	Process	Regulation of membrane potential	IBA
GO:0042803	Function	Protein homodimerization activity	IDA	8145738
GO:0043005	Component	Neuron projection	IBA
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IDA	16968406
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	ISS
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	10771023
GO:0044853	Component	Plasma membrane raft	ISS
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IDA	21718690
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IMP	12189247, 16280133
GO:0050808	Process	Synapse organization	ISS
GO:0050890	Process	Cognition	IEA
GO:0050890	Process	Cognition	IMP	16754836
GO:0050890	Process	Cognition	NAS	10681545
GO:0050893	Process	Sensory processing	ISS
GO:0051247	Process	Positive regulation of protein metabolic process	ISS
GO:0060079	Process	Excitatory postsynaptic potential	IDA	21718690
GO:0060084	Process	Synaptic transmission involved in micturition	ISS
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	ISS
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0095500	Process	Acetylcholine receptor signaling pathway	IDA	33735609
GO:0095500	Process	Acetylcholine receptor signaling pathway	ISS
GO:0097061	Process	Dendritic spine organization	ISS
GO:0098794	Component	Postsynapse	TAS	26224839
GO:0098815	Process	Modulation of excitatory postsynaptic potential	ISS
GO:0098878	Component	Neurotransmitter receptor complex	IDA	38161283
GO:0140059	Process	Dendrite arborization	ISS
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IDA	16968406, 21606497
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IDA	12508119, 16968406
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	ISS
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	ISS
GO:1900273	Process	Positive regulation of long-term synaptic potentiation	ISS
GO:1902004	Process	Positive regulation of amyloid-beta formation	ISS
GO:1902430	Process	Negative regulation of amyloid-beta formation	IGI	20708605
GO:1902991	Process	Regulation of amyloid precursor protein catabolic process	IGI	20708605
GO:1904645	Process	Response to amyloid-beta	ISS
GO:1905144	Process	Response to acetylcholine	IDA	17898229
GO:1905144	Process	Response to acetylcholine	ISS
GO:1905869	Process	Negative regulation of 3'-UTR-mediated mRNA stabilization	IDA	21606497
GO:1905906	Process	Regulation of amyloid fibril formation	ISS
GO:1990806	Process	Ligand-gated ion channel signaling pathway	IDA	33735609
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS

Other IDs

• MIM: 118511
• HGNC: 1960
• e!Ensembl: ENSG00000175344

Interactions View interactions

Pathways

KEGG:

Calcium signaling pathway
Neuroactive ligand-receptor interaction
Cholinergic synapse
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Nicotine addiction
Chemical carcinogenesis - receptor activation

Reactome:

Highly calcium permeable postsynaptic nicotinic acetylcholine receptors

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
15Q13.3 MICRODELETION SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUDITORY PERCEPTUAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN INJURIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRNA7-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME 15Q13.3 DELETION SYNDROME	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 15q13.3 microdeletion syndrome	Uncertain significance	ClinVar CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EXOMPHALOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL OMPHALOCELE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	ClinGen, Disgenet ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, GENERALIZED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, idiopathic generalized, susceptibility to, 7	no classifications from unflagged records	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMORY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE WITHDRAWAL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations