Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	1139
Gene name	Cholinergic receptor nicotinic alpha 7 subunit
Gene symbol	CHRNA7
Synonyms (NCBI Gene)	CHRNA7-2NACHRA7nAChR7
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

96 Show/Hide all (96)

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

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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

MIM	HGNC	e!Ensembl
118511	1960	ENSG00000175344

Interactions View interactions

KEGG Pathway	Reactome Pathway
Calcium signaling pathway	Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
Neuroactive ligand-receptor interaction
Cholinergic synapse
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Nicotine addiction
Chemical carcinogenesis - receptor activation

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (29)
15Q13.3 MICRODELETION SYNDROME	—	Orphanet	22775350	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUDITORY PERCEPTUAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	10578459	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	15046869	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN INJURIES	—	CTD	23159883	★★★★★ ★★☆☆☆ 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	19136953	★★★★★ ★★☆☆☆ 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	24089524	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMORY DISORDERS	—	CTD, Disgenet CTD, Disgenet	18848931	★★★★★ ★★☆☆☆ 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	34689653	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	10565853, 10942032, 11893908, 14996991, 9495872	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE WITHDRAWAL SYNDROME	—	CTD	18184829	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CHRFAM7A	0	[]	5	["Calcium signaling pathway","Cholinergic synapse","Nicotine addiction","Chemical carcinogenesis - receptor activation","Highly calcium permeable postsynaptic nicotinic acetylcholine receptors"]	0	[]
CHRM1	3	["Epilepsy","Seizures","Memory disorders"]	2	["Calcium signaling pathway","Cholinergic synapse"]	4	["Disgenet (Epilepsy)","CTD (Memory disorders)","Disgenet (Memory disorders)","CTD (Seizures)"]
CHRNB4	3	["Obstructive airway disease","Seizures","Lung neoplasms"]	3	["Cholinergic synapse","Chemical carcinogenesis - receptor activation","Highly calcium permeable postsynaptic nicotinic acetylcholine receptors"]	4	["Disgenet (Obstructive airway disease)","CTD (Lung neoplasms)","CTD (Seizures)","CTD (Substance abuse)"]
CHRNA3	3	["Obstructive airway disease","Seizures","Lung neoplasms"]	3	["Cholinergic synapse","Chemical carcinogenesis - receptor activation","Highly calcium permeable postsynaptic nicotinic acetylcholine receptors"]	3	["Disgenet (Obstructive airway disease)","CTD (Lung neoplasms)","CTD (Seizures)"]
CHRNB2	1	["Seizures"]	4	["Cholinergic synapse","Nicotine addiction","Chemical carcinogenesis - receptor activation","Highly calcium permeable postsynaptic nicotinic acetylcholine receptors"]	2	["Disgenet (Alzheimer disease)","CTD (Substance abuse)"]

CHRNA7 (cholinergic receptor nicotinic alpha 7 subunit)

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