Gene table of CHRNE : cholinergic receptor nicotinic epsilon subunit

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CHRNE	OMIM link	Number of associated genes	genes
PS601462	MYASTHENIC SYNDROME, CONGENITAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	23	LRP4, CHRNE, DOK7, CHRNB1, CHAT, COX10, COLQ, COL13A1, DPAGT1, ALG14, MUSK, AGRN, SNAP25, SURF1, GFPT1, CHRNA1, RAPSN, CHRND, SCN4A, TACO1, SYT2, COX15, ALG2

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 sodium permeable acetylcholine nicotinic receptors	R-HSA-629587	10.18
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
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