Gene table of CHRNA2 : cholinergic receptor nicotinic alpha 2 subunit

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CHRNA2	OMIM link	Number of associated genes	genes
PS600513	EPILEPSY, NOCTURNAL FRONTAL LOBE	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	SPAG1, CHRNA2, CHRNB2, KCNT1, CHRNA4

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Neuroactive ligand-receptor interaction	hsa04080	4.58

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Acetylcholine Binding And Downstream Events	R-HSA-181431	9.18
Activation of Nicotinic Acetylcholine Receptors	R-HSA-629602	9.18
Highly calcium permeable nicotinic acetylcholine receptors	R-HSA-629597	9.81
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors	R-HSA-629594	9.52
Postsynaptic nicotinic acetylcholine receptors	R-HSA-622327	9.18
Presynaptic nicotinic acetylcholine receptors	R-HSA-622323	9.4
Neuronal System	R-HSA-112316	4.82
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	R-HSA-112314	5.85
Transmission across Chemical Synapses	R-HSA-112315	5.28

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation channel activity	GO:0005261	4.04
acetylcholine receptor activity	GO:0015464	6.3
drug binding	GO:0008144	5.03
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
signaling receptor activity	GO:0038023	2.49
ammonium ion binding	GO:0070405	5.81
ligand-gated ion channel activity	GO:0015276	4.8
ion binding	GO:0043167	1.36
transmembrane transporter activity	GO:0022857	2.82
channel activity	GO:0015267	3.6
passive transmembrane transporter activity	GO:0022803	3.6
extracellular ligand-gated ion channel activity	GO:0005230	5.42
neurotransmitter receptor activity	GO:0030594	5.5
excitatory extracellular ligand-gated ion channel activity	GO:0005231	5.73
cation binding	GO:0043169	1.4
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
acetylcholine binding	GO:0042166	6.56
neurotransmitter binding	GO:0042165	6.34
substrate-specific transmembrane transporter activity	GO:0022891	2.9
substrate-specific transporter activity	GO:0022892	2.72
ion transmembrane transporter activity	GO:0015075	3.04
transmembrane signaling receptor activity	GO:0004888	2.57
acetylcholine-activated cation-selective channel activity	GO:0004889	6.65
gated channel activity	GO:0022836	3.96
ligand-gated channel activity	GO:0022834	4.8
substrate-specific channel activity	GO:0022838	3.67
transmembrane receptor activity	GO:0099600	2.53
receptor activity	GO:0004872	2.32