Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1135
Gene name Gene Name - the full gene name approved by the HGNC.	Cholinergic receptor nicotinic alpha 2 subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CHRNA2
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8p21.2
Summary Summary of gene provided in NCBI Entrez Gene.	Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central ner

Show/Hide all(13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74772771	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, 5 prime UTR variant
rs76140563	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs77710085	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs104894063	A>T	Pathogenic	Coding sequence variant, missense variant
rs138682847	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant
rs140350483	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs141721605	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs144185168	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, coding sequence variant, missense variant
rs147530139	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs149142237	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs371858399	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1018084204	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554514507	T>A	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(99)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025736	hsa-miR-7-5p	Microarray	17612493
MIRT891683	hsa-miR-105	CLIP-seq
MIRT891684	hsa-miR-1224-3p	CLIP-seq
MIRT891685	hsa-miR-1233	CLIP-seq
MIRT891686	hsa-miR-1260	CLIP-seq
MIRT891687	hsa-miR-1260b	CLIP-seq
MIRT891688	hsa-miR-1280	CLIP-seq
MIRT891689	hsa-miR-129-3p	CLIP-seq
MIRT891690	hsa-miR-1321	CLIP-seq
MIRT891691	hsa-miR-1827	CLIP-seq
MIRT891692	hsa-miR-2115	CLIP-seq
MIRT891693	hsa-miR-218	CLIP-seq
MIRT891694	hsa-miR-2467-5p	CLIP-seq
MIRT891695	hsa-miR-3127-3p	CLIP-seq
MIRT891696	hsa-miR-3161	CLIP-seq
MIRT891697	hsa-miR-3179	CLIP-seq
MIRT891698	hsa-miR-3180-5p	CLIP-seq
MIRT891699	hsa-miR-3194-3p	CLIP-seq
MIRT891700	hsa-miR-338-5p	CLIP-seq
MIRT891701	hsa-miR-3622a-3p	CLIP-seq
MIRT891702	hsa-miR-3622b-3p	CLIP-seq
MIRT891703	hsa-miR-3929	CLIP-seq
MIRT891704	hsa-miR-4419a	CLIP-seq
MIRT891705	hsa-miR-4419b	CLIP-seq
MIRT891706	hsa-miR-4475	CLIP-seq
MIRT891707	hsa-miR-4478	CLIP-seq
MIRT891708	hsa-miR-4510	CLIP-seq
MIRT891709	hsa-miR-4690-3p	CLIP-seq
MIRT891710	hsa-miR-4690-5p	CLIP-seq
MIRT891711	hsa-miR-4691-5p	CLIP-seq
MIRT891712	hsa-miR-4727-5p	CLIP-seq
MIRT891713	hsa-miR-4728-5p	CLIP-seq
MIRT891714	hsa-miR-4739	CLIP-seq
MIRT891715	hsa-miR-4756-5p	CLIP-seq
MIRT891716	hsa-miR-4769-3p	CLIP-seq
MIRT891717	hsa-miR-4779	CLIP-seq
MIRT891718	hsa-miR-515-5p	CLIP-seq
MIRT891719	hsa-miR-516a-3p	CLIP-seq
MIRT891720	hsa-miR-520a-5p	CLIP-seq
MIRT891721	hsa-miR-525-5p	CLIP-seq
MIRT891722	hsa-miR-532-3p	CLIP-seq
MIRT891723	hsa-miR-636	CLIP-seq
MIRT891724	hsa-miR-940	CLIP-seq
MIRT1546433	hsa-miR-1343	CLIP-seq
MIRT891684	hsa-miR-1224-3p	CLIP-seq
MIRT891686	hsa-miR-1260	CLIP-seq
MIRT891687	hsa-miR-1260b	CLIP-seq
MIRT891688	hsa-miR-1280	CLIP-seq
MIRT891690	hsa-miR-1321	CLIP-seq
MIRT1964281	hsa-miR-331-3p	CLIP-seq
MIRT891701	hsa-miR-3622a-3p	CLIP-seq
MIRT891702	hsa-miR-3622b-3p	CLIP-seq
MIRT1964282	hsa-miR-4286	CLIP-seq
MIRT891704	hsa-miR-4419a	CLIP-seq
MIRT891708	hsa-miR-4510	CLIP-seq
MIRT1964283	hsa-miR-4651	CLIP-seq
MIRT891713	hsa-miR-4728-5p	CLIP-seq
MIRT1964284	hsa-miR-4731-5p	CLIP-seq
MIRT891714	hsa-miR-4739	CLIP-seq
MIRT891715	hsa-miR-4756-5p	CLIP-seq
MIRT891718	hsa-miR-515-5p	CLIP-seq
MIRT891722	hsa-miR-532-3p	CLIP-seq
MIRT1964285	hsa-miR-608	CLIP-seq
MIRT1964286	hsa-miR-637	CLIP-seq
MIRT2200386	hsa-miR-1207-5p	CLIP-seq
MIRT1546433	hsa-miR-1343	CLIP-seq
MIRT891691	hsa-miR-1827	CLIP-seq
MIRT2200387	hsa-miR-2861	CLIP-seq
MIRT2200388	hsa-miR-3150a-3p	CLIP-seq
MIRT2200389	hsa-miR-3173-3p	CLIP-seq
MIRT2200390	hsa-miR-3175	CLIP-seq
MIRT891701	hsa-miR-3622a-3p	CLIP-seq
MIRT891702	hsa-miR-3622b-3p	CLIP-seq
MIRT2200391	hsa-miR-3622b-5p	CLIP-seq
MIRT2200392	hsa-miR-3918	CLIP-seq
MIRT2200393	hsa-miR-4316	CLIP-seq
MIRT2200394	hsa-miR-4512	CLIP-seq
MIRT2200395	hsa-miR-4533	CLIP-seq
MIRT2200396	hsa-miR-4640-5p	CLIP-seq
MIRT1964283	hsa-miR-4651	CLIP-seq
MIRT2200397	hsa-miR-4667-5p	CLIP-seq
MIRT2200398	hsa-miR-4700-5p	CLIP-seq
MIRT2200399	hsa-miR-4726-5p	CLIP-seq
MIRT891713	hsa-miR-4728-5p	CLIP-seq
MIRT2200400	hsa-miR-4736	CLIP-seq
MIRT2200401	hsa-miR-4747-5p	CLIP-seq
MIRT2200402	hsa-miR-4763-3p	CLIP-seq
MIRT891718	hsa-miR-515-5p	CLIP-seq
MIRT1964285	hsa-miR-608	CLIP-seq
MIRT2200403	hsa-miR-661	CLIP-seq
MIRT2200404	hsa-miR-939	CLIP-seq
MIRT891684	hsa-miR-1224-3p	CLIP-seq
MIRT891686	hsa-miR-1260	CLIP-seq
MIRT891687	hsa-miR-1260b	CLIP-seq
MIRT891688	hsa-miR-1280	CLIP-seq
MIRT891701	hsa-miR-3622a-3p	CLIP-seq
MIRT891702	hsa-miR-3622b-3p	CLIP-seq
MIRT891718	hsa-miR-515-5p	CLIP-seq
MIRT891722	hsa-miR-532-3p	CLIP-seq

Show/Hide all(49)

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:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005892	Component	Acetylcholine-gated channel complex	IBA
GO:0005892	Component	Acetylcholine-gated channel complex	IDA	8906617, 24467848
GO:0005892	Component	Acetylcholine-gated channel complex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	NAS	8906617
GO:0007165	Process	Signal transduction	IDA	8906617
GO:0007271	Process	Synaptic transmission, cholinergic	IBA
GO:0007274	Process	Neuromuscular synaptic transmission	IBA
GO:0015464	Function	Acetylcholine receptor activity	IDA	8906617
GO:0015464	Function	Acetylcholine receptor activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	8906617
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IBA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IDA	8906617
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034703	Component	Cation channel complex	IDA	24467848
GO:0035094	Process	Response to nicotine	IBA
GO:0043005	Component	Neuron projection	IBA
GO:0045171	Component	Intercellular bridge	IDA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0050997	Function	Quaternary ammonium group binding	IEA
GO:0051899	Process	Membrane depolarization	IBA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0071316	Process	Cellular response to nicotine	IEA
GO:0071944	Component	Cell periphery	IEA
GO:0095500	Process	Acetylcholine receptor signaling pathway	IBA
GO:0097060	Component	Synaptic membrane	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098828	Process	Modulation of inhibitory postsynaptic potential	IEA
GO:0098878	Component	Neurotransmitter receptor complex	IDA	24467848
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IBA
GO:0120111	Component	Neuron projection cytoplasm	IEA
GO:1901363	Function	Heterocyclic compound binding	IEA
GO:1905144	Process	Response to acetylcholine	IEA

MIM	HGNC	e!Ensembl
118502	1956	ENSG00000120903

Protein

UniProt ID

Q15822

Protein name

Neuronal acetylcholine receptor subunit alpha-2 (Nicotinic acetylcholine receptor subunit alpha-2)

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

PDB

5FJV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	59 → 265	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	272 → 520	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MGPSCPVFLSFTKLSLWWLLLTPAGGEEAKRPPPRAPGDPLSSPSPTALPQGGSHTETED
RLFKHLFRGYNRWARPVPNTSDVVIVRFGLSIAQLIDVDEKNQMMTTNVWLKQEWSDYKL
RWNPTDFGNITSLRVPSEMIWIPDIVLYNNADGEFAVTHMTKAHLFSTGTVHWVPPAIYK
SSCSIDVTFFPFDQQNCKMKFGSWTYDKAKIDLEQMEQTVDLKDYWESGEWAIVNATGTY
NSKKYDCCAEIYPDVTYAFVIRRLPLFYTINLIIPCLLISCLTVLVFYLPSDCGEKITLC
ISVLLSLTVFLLLITEIIPSTSLVIPLIGEYLLFTMIFVTLSIVITVFVLNVHHRSPSTH
TMPHWVRGALLGCVPRWLLMNRPPPPVELCHPLRLKLSPSYHWLESNVDAEEREVVVEEE
DRWACAGHVAPSVGTLCSHGHLHSGASGPKAEALLQEGELLLSPHMQKALEGVHYIADHL
RSEDADSSVKEDWKYVAMVIDRIFLWLFIIVCFLGTIGLFLPPFLAGMI

Sequence length

529

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction		Highly calcium permeable postsynaptic nicotinic acetylcholine receptors Highly calcium permeable nicotinic acetylcholine receptors

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Nocturnal Epilepsy	Autosomal dominant nocturnal frontal lobe epilepsy 4	rs104894063, rs1554514507	N/A

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
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.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Epilepsy	familial sleep-related hypermotor epilepsy, benign familial infantile epilepsy	N/A	N/A	GenCC
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Myoclonic Epilepsy	myoclonic epilepsy	N/A	N/A	ClinVar
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Autistic Disorder	Associate	39596607
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Associate	17900292, 25770198, 25847220
Carcinoma Mucoepidermoid	Associate	25823930
Cardiovascular Diseases	Associate	34040693
Epilepsies Partial	Associate	16826524
Epilepsy	Associate	25847220, 37095367
Epilepsy Frontal Lobe	Associate	25770198
Epilepsy Nocturnal Frontal Lobe Type 1	Associate	25847220
Epileptic Syndromes	Associate	16826524
Lung Neoplasms	Associate	29924316
Nocturnal Paroxysmal Dystonia	Associate	16826524
Seizures	Associate	25847220
Seizures Febrile	Associate	39596607
Substance Related Disorders	Associate	18384978

CHRNA2 (cholinergic receptor nicotinic alpha 2 subunit)