ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	ACHE
Previous Symbol	YT
Approved Name	acetylcholinesterase
Previous Name	acetylcholinesterase (YT blood group), "acetylcholinesterase (Yt blood group)"
Name Alias	Yt blood group
Location	7q22
Position	chr7:100487615-100494594, -
External Links	HGNC: 108 Entrez Gene: 43 Ensembl: ENSG00000087085 UCSC: uc003uxe.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by PBA pathway

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 58)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0004091	carboxylesterase activity	Molecular Function		40

GO terms by database search (count: 57)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0001540	beta-amyloid binding	Molecular Function	TAS[11283752]	6
GO:0001507	acetylcholine catabolic process in synaptic cleft	Biological Process	NAS[1517212]	1
GO:0002076	osteoblast development	Biological Process	IEP[15454088]	4
GO:0001919	regulation of receptor recycling	Biological Process		2
GO:0003990	acetylcholinesterase activity	Molecular Function	IDA[1517212]; IMP[1517212]	2
GO:0005515	protein binding	Molecular Function	IPI[18194455]	910
GO:0004104	cholinesterase activity	Molecular Function	IDA[1517212]	3
GO:0005576	extracellular region	Cellular Component	IDA[1517212]; TAS[11283752]	240
GO:0005518	collagen binding	Molecular Function	IDA[12524166]	8
GO:0005615	extracellular space	Cellular Component		126
GO:0005605	basal lamina	Cellular Component	NAS[16289501]	1
GO:0005788	endoplasmic reticulum lumen	Cellular Component		33
GO:0005634	nucleus	Cellular Component		770
GO:0031594	neuromuscular junction	Cellular Component		7
GO:0031225	anchored to membrane	Cellular Component		29
GO:0030425	dendrite	Cellular Component		46
GO:0030424	axon	Cellular Component		35
GO:0030054	cell junction	Cellular Component		77
GO:0019695	choline metabolic process	Biological Process		3
GO:0017171	serine hydrolase activity	Molecular Function	IDA[3954986]	2
GO:0016787	hydrolase activity	Molecular Function	IDA[1517212]	12
GO:0043236	laminin binding	Molecular Function	IDA[12524166]	1
GO:0042982	amyloid precursor protein metabolic process	Biological Process	TAS[12769797]	1
GO:0042803	protein homodimerization activity	Molecular Function	IPI[12524166]; NAS[1517212]	113
GO:0042734	presynaptic membrane	Cellular Component		15
GO:0042166	acetylcholine binding	Molecular Function	IDA[8349597]; NAS[1517212]	5
GO:0042136	neurotransmitter biosynthetic process	Biological Process		6
GO:0032223	negative regulation of synaptic transmission, cholinergic	Biological Process	IC[1517212]	1
GO:0031623	receptor internalization	Biological Process		10
GO:0007155	cell adhesion	Biological Process	IDA[15454088]; TAS[11283752]	86
GO:0007268	synaptic transmission	Biological Process		96
GO:0006644	phospholipid metabolic process	Biological Process		59
GO:0006656	phosphatidylcholine biosynthetic process	Biological Process		6
GO:0006260	DNA replication	Biological Process	TAS[11283752]	27
GO:0006581	acetylcholine catabolic process	Biological Process	IDA[1517212]	1
GO:0005794	Golgi apparatus	Cellular Component	IDA[15454088]	157
GO:0005886	plasma membrane	Cellular Component		772
GO:0009986	cell surface	Cellular Component		70
GO:0016020	membrane	Cellular Component	IDA[16262697]	139
GO:0008283	cell proliferation	Biological Process	TAS[11283752]	60
GO:0009611	response to wounding	Biological Process	TAS[11283752]	9
GO:0007416	synapse assembly	Biological Process	TAS[11283752]	6
GO:0007517	muscle organ development	Biological Process	TAS[11283752]	16
GO:0007271	synaptic transmission, cholinergic	Biological Process		8
GO:0007399	nervous system development	Biological Process	TAS[11283752]	54
GO:0045212	neurotransmitter receptor biosynthetic process	Biological Process		1
GO:0046474	glycerophospholipid biosynthetic process	Biological Process		30
GO:0048471	perinuclear region of cytoplasm	Cellular Component	IDA[14766237]	87
GO:0048814	regulation of dendrite morphogenesis	Biological Process		4
GO:0043621	protein self-association	Molecular Function		8
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0045202	synapse	Cellular Component	IDA[8460160]	31
GO:0045211	postsynaptic membrane	Cellular Component		41
GO:0050714	positive regulation of protein secretion	Biological Process	TAS[11283752]	5
GO:0050770	regulation of axonogenesis	Biological Process		6
GO:0051262	protein tetramerization	Biological Process		6
GO:0060041	retina development in camera-type eye	Biological Process		8

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa00564	Glycerophospholipid metabolism	22

Genes shared at least 5 GO terms with ACHE (count: 122)

Gene Symbol	Pathway Count	Pathway List
BCHE	10	beta-amyloid binding; carboxylesterase activity; acetylcholinesterase activity; cholinesterase activity; extracellular region; extracellular space; endoplasmic reticulum lumen; choline metabolic process; membrane; synaptic transmission, cholinergic;
SNCA	10	protein binding; extracellular region; nucleus; axon; cell junction; receptor internalization; phospholipid metabolic process; Golgi apparatus; plasma membrane; perinuclear region of cytoplasm;
APOA1	9	beta-amyloid binding; protein binding; extracellular region; extracellular space; endoplasmic reticulum lumen; nucleus; phosphatidylcholine biosynthetic process; plasma membrane; small molecule metabolic process;
LPL	9	carboxylesterase activity; protein binding; extracellular region; extracellular space; anchored to membrane; phospholipid metabolic process; plasma membrane; cell surface; small molecule metabolic process;
PLA2G5	9	carboxylesterase activity; extracellular region; phospholipid metabolic process; Golgi apparatus; plasma membrane; cell surface; glycerophospholipid biosynthetic process; perinuclear region of cytoplasm; small molecule metabolic process;
PDE2A	9	protein binding; nucleus; dendrite; axon; protein homodimerization activity; presynaptic membrane; Golgi apparatus; plasma membrane; perinuclear region of cytoplasm;
CHRNA3	9	dendrite; cell junction; acetylcholine binding; synaptic transmission; plasma membrane; synaptic transmission, cholinergic; nervous system development; regulation of dendrite morphogenesis; postsynaptic membrane;
NLGN1	8	carboxylesterase activity; dendrite; cell junction; cell surface; synapse assembly; nervous system development; synapse; postsynaptic membrane;
GHR	8	protein binding; extracellular region; extracellular space; nucleus; protein homodimerization activity; receptor internalization; plasma membrane; cell surface;
GRIN2A	8	protein binding; cell junction; presynaptic membrane; synaptic transmission; plasma membrane; cell surface; response to wounding; postsynaptic membrane;
MTMR2	8	protein binding; nucleus; dendrite; axon; protein homodimerization activity; phospholipid metabolic process; small molecule metabolic process; protein tetramerization;
SNAP25	8	protein binding; cell junction; synaptic transmission; plasma membrane; membrane; perinuclear region of cytoplasm; small molecule metabolic process; synapse;
CTGF	8	extracellular region; extracellular space; DNA replication; Golgi apparatus; plasma membrane; response to wounding; perinuclear region of cytoplasm; small molecule metabolic process;
CHRM3	8	dendrite; cell junction; acetylcholine binding; plasma membrane; cell proliferation; nervous system development; small molecule metabolic process; postsynaptic membrane;
CHRNA4	8	dendrite; cell junction; acetylcholine binding; synaptic transmission; plasma membrane; membrane; synaptic transmission, cholinergic; postsynaptic membrane;
CHRNA7	7	beta-amyloid binding; cell junction; protein homodimerization activity; acetylcholine binding; synaptic transmission; plasma membrane; postsynaptic membrane;
MGLL	7	carboxylesterase activity; protein homodimerization activity; phospholipid metabolic process; plasma membrane; glycerophospholipid biosynthetic process; small molecule metabolic process; synapse;
PLA2G1B	7	carboxylesterase activity; extracellular region; extracellular space; phospholipid metabolic process; glycerophospholipid biosynthetic process; small molecule metabolic process; positive regulation of protein secretion;
PLA2G3	7	carboxylesterase activity; extracellular region; extracellular space; phospholipid metabolic process; plasma membrane; glycerophospholipid biosynthetic process; small molecule metabolic process;
ADORA2A	7	protein binding; presynaptic membrane; plasma membrane; membrane; synaptic transmission, cholinergic; postsynaptic membrane; positive regulation of protein secretion;
CRYAB	7	protein binding; nucleus; protein homodimerization activity; Golgi apparatus; plasma membrane; cell surface; muscle organ development;
GOPC	7	protein binding; cell junction; protein homodimerization activity; Golgi apparatus; plasma membrane; membrane; postsynaptic membrane;
PICALM	7	protein binding; nucleus; presynaptic membrane; receptor internalization; Golgi apparatus; perinuclear region of cytoplasm; postsynaptic membrane;
PRKD1	7	protein binding; nucleus; phospholipid metabolic process; Golgi apparatus; plasma membrane; cell proliferation; small molecule metabolic process;
PVRL1	7	protein binding; extracellular region; protein homodimerization activity; cell adhesion; plasma membrane; membrane; retina development in camera-type eye;
VEGFA	7	protein binding; extracellular region; extracellular space; protein homodimerization activity; cell surface; membrane; nervous system development;
CHKA	7	cholinesterase activity; choline metabolic process; protein homodimerization activity; phospholipid metabolic process; phosphatidylcholine biosynthetic process; glycerophospholipid biosynthetic process; small molecule metabolic process;
RAPSN	7	neuromuscular junction; cell junction; synaptic transmission; Golgi apparatus; plasma membrane; synaptic transmission, cholinergic; postsynaptic membrane;
GRIK1	7	dendrite; cell junction; presynaptic membrane; synaptic transmission; plasma membrane; nervous system development; postsynaptic membrane;
PLA2G2A	6	carboxylesterase activity; extracellular region; extracellular space; phospholipid metabolic process; glycerophospholipid biosynthetic process; small molecule metabolic process;
PNPLA8	6	carboxylesterase activity; phospholipid metabolic process; membrane; glycerophospholipid biosynthetic process; perinuclear region of cytoplasm; small molecule metabolic process;
ADCY4	6	protein binding; dendrite; synaptic transmission; plasma membrane; membrane; small molecule metabolic process;
ADRA2A	6	protein binding; protein homodimerization activity; DNA replication; plasma membrane; small molecule metabolic process; synapse;
CADM1	6	protein binding; dendrite; axon; protein homodimerization activity; plasma membrane; synapse assembly;
ENPP1	6	protein binding; extracellular space; protein homodimerization activity; plasma membrane; cell surface; small molecule metabolic process;
ERBB2	6	protein binding; nucleus; plasma membrane; cell proliferation; nervous system development; perinuclear region of cytoplasm;
FEZ1	6	protein binding; dendrite; axon; cell adhesion; plasma membrane; nervous system development;
FN1	6	protein binding; extracellular region; collagen binding; extracellular space; cell adhesion; response to wounding;
GRIN2B	6	protein binding; cell junction; synaptic transmission; plasma membrane; cell surface; postsynaptic membrane;
INPPL1	6	protein binding; cell adhesion; phospholipid metabolic process; Golgi apparatus; plasma membrane; small molecule metabolic process;
MAP1S	6	protein binding; nucleus; dendrite; nervous system development; perinuclear region of cytoplasm; synapse;
NRXN1	6	protein binding; cell junction; presynaptic membrane; cell adhesion; plasma membrane; cell surface;
PAK1	6	protein binding; collagen binding; dendrite; axon; Golgi apparatus; plasma membrane;
RTN4R	6	protein binding; anchored to membrane; plasma membrane; cell surface; membrane; regulation of axonogenesis;
SNAP23	6	protein binding; nucleus; cell junction; Golgi apparatus; plasma membrane; synapse;
STX1A	6	protein binding; extracellular region; cell junction; synaptic transmission; plasma membrane; small molecule metabolic process;
TXN	6	protein binding; extracellular region; dendrite; axon; cell proliferation; small molecule metabolic process;
AMBP	6	extracellular region; extracellular space; protein homodimerization activity; cell adhesion; plasma membrane; cell surface;
APOA4	6	extracellular region; extracellular space; endoplasmic reticulum lumen; protein homodimerization activity; cell surface; small molecule metabolic process;
NCAM1	6	extracellular region; anchored to membrane; axon; cell adhesion; plasma membrane; cell surface;
STS	6	endoplasmic reticulum lumen; phospholipid metabolic process; Golgi apparatus; plasma membrane; membrane; small molecule metabolic process;
CNTNAP2	6	dendrite; axon; cell adhesion; Golgi apparatus; cell surface; membrane;
GRM7	6	dendrite; axon; presynaptic membrane; synaptic transmission; plasma membrane; postsynaptic membrane;
CHRM1	6	cell junction; plasma membrane; membrane; cell proliferation; nervous system development; postsynaptic membrane;
PLD1	6	phospholipid metabolic process; Golgi apparatus; membrane; glycerophospholipid biosynthetic process; perinuclear region of cytoplasm; small molecule metabolic process;
APBA2	5	beta-amyloid binding; protein binding; synaptic transmission; plasma membrane; nervous system development;
APBB1	5	beta-amyloid binding; protein binding; nucleus; plasma membrane; synapse;
APOC2	5	carboxylesterase activity; extracellular region; extracellular space; protein homodimerization activity; small molecule metabolic process;
PLA2G10	5	carboxylesterase activity; extracellular region; phospholipid metabolic process; glycerophospholipid biosynthetic process; small molecule metabolic process;
PLA2G2D	5	carboxylesterase activity; extracellular region; phospholipid metabolic process; glycerophospholipid biosynthetic process; small molecule metabolic process;
PLA2G2E	5	carboxylesterase activity; extracellular region; phospholipid metabolic process; glycerophospholipid biosynthetic process; small molecule metabolic process;
PLA2G4B	5	carboxylesterase activity; extracellular region; phospholipid metabolic process; glycerophospholipid biosynthetic process; small molecule metabolic process;
PLA2G4C	5	carboxylesterase activity; phospholipid metabolic process; membrane; glycerophospholipid biosynthetic process; small molecule metabolic process;
PLA2G6	5	carboxylesterase activity; phospholipid metabolic process; membrane; glycerophospholipid biosynthetic process; small molecule metabolic process;
PNPLA3	5	carboxylesterase activity; phospholipid metabolic process; membrane; glycerophospholipid biosynthetic process; small molecule metabolic process;
ADAM8	5	protein binding; plasma membrane; cell surface; protein self-association; positive regulation of protein secretion;
APC	5	protein binding; nucleus; cell adhesion; plasma membrane; retina development in camera-type eye;
ARF6	5	protein binding; cell adhesion; Golgi apparatus; plasma membrane; membrane;
ARRB2	5	protein binding; nucleus; receptor internalization; plasma membrane; postsynaptic membrane;
CACNA1A	5	protein binding; nucleus; synaptic transmission; plasma membrane; small molecule metabolic process;
CAV3	5	protein binding; neuromuscular junction; plasma membrane; cell surface; muscle organ development;
DLG2	5	protein binding; cell junction; synaptic transmission; plasma membrane; postsynaptic membrane;
DRD2	5	protein binding; dendrite; axon; plasma membrane; synapse assembly;
DTNA	5	protein binding; cell junction; synaptic transmission; plasma membrane; synapse;
GGT1	5	protein binding; hydrolase activity; plasma membrane; membrane; small molecule metabolic process;
GRIN3A	5	protein binding; cell junction; membrane; synapse; postsynaptic membrane;
HES1	5	protein binding; nucleus; protein homodimerization activity; cell adhesion; nervous system development;
HSPA8	5	protein binding; nucleus; synaptic transmission; plasma membrane; cell surface;
INS	5	protein binding; extracellular region; extracellular space; endoplasmic reticulum lumen; small molecule metabolic process;
ITGA2	5	protein binding; collagen binding; cell adhesion; plasma membrane; cell surface;
KLHL20	5	protein binding; nucleus; Golgi apparatus; cell surface; perinuclear region of cytoplasm;
LPXN	5	protein binding; nucleus; cell adhesion; plasma membrane; perinuclear region of cytoplasm;
MAGI2	5	protein binding; nucleus; plasma membrane; perinuclear region of cytoplasm; synapse;
MALT1	5	protein binding; nucleus; plasma membrane; perinuclear region of cytoplasm; protein self-association;
MARK2	5	protein binding; nucleus; plasma membrane; membrane; regulation of axonogenesis;
MIF	5	protein binding; extracellular region; extracellular space; cell surface; cell proliferation;
PAFAH1B1	5	protein binding; nucleus; protein homodimerization activity; synaptic transmission; perinuclear region of cytoplasm;
PIK3CG	5	protein binding; phospholipid metabolic process; plasma membrane; membrane; small molecule metabolic process;
PLA2G16	5	protein binding; phospholipid metabolic process; glycerophospholipid biosynthetic process; perinuclear region of cytoplasm; small molecule metabolic process;
PLD2	5	protein binding; phospholipid metabolic process; plasma membrane; glycerophospholipid biosynthetic process; small molecule metabolic process;
PTPRK	5	protein binding; dendrite; axon; cell adhesion; cell surface;
SEMA4D	5	protein binding; extracellular space; cell adhesion; plasma membrane; regulation of dendrite morphogenesis;
SIPA1	5	protein binding; nucleus; membrane; cell proliferation; perinuclear region of cytoplasm;
SLC6A3	5	protein binding; axon; neurotransmitter biosynthetic process; synaptic transmission; plasma membrane;
STRN3	5	protein binding; nucleus; dendrite; Golgi apparatus; plasma membrane;
STX4	5	protein binding; plasma membrane; cell surface; membrane; perinuclear region of cytoplasm;
SYT1	5	protein binding; cell junction; presynaptic membrane; synaptic transmission; plasma membrane;
SYTL2	5	protein binding; nucleus; Golgi apparatus; plasma membrane; membrane;
TH	5	protein binding; nucleus; dendrite; neurotransmitter biosynthetic process; small molecule metabolic process;
VAMP2	5	protein binding; cell junction; synaptic transmission; plasma membrane; small molecule metabolic process;
VEGFB	5	protein binding; extracellular region; extracellular space; protein homodimerization activity; membrane;
CNTN4	5	extracellular region; anchored to membrane; axon; plasma membrane; nervous system development;
CTF1	5	extracellular region; extracellular space; cell proliferation; muscle organ development; nervous system development;
FGF10	5	extracellular region; extracellular space; nucleus; plasma membrane; cell surface;
FKTN	5	extracellular space; nucleus; Golgi apparatus; muscle organ development; nervous system development;
LPIN1	5	nucleus; phospholipid metabolic process; phosphatidylcholine biosynthetic process; glycerophospholipid biosynthetic process; small molecule metabolic process;
PERP	5	nucleus; cell junction; cell adhesion; Golgi apparatus; plasma membrane;
GABRA5	5	dendrite; cell junction; synaptic transmission; plasma membrane; postsynaptic membrane;
GRIA4	5	dendrite; cell junction; synaptic transmission; plasma membrane; postsynaptic membrane;
SORT1	5	dendrite; Golgi apparatus; plasma membrane; cell surface; perinuclear region of cytoplasm;
SLC6A1	5	axon; synaptic transmission; plasma membrane; cell surface; membrane;
CHRNB4	5	cell junction; synaptic transmission; plasma membrane; synaptic transmission, cholinergic; postsynaptic membrane;
GRIK4	5	cell junction; presynaptic membrane; synaptic transmission; plasma membrane; postsynaptic membrane;
CCDC88A	5	protein homodimerization activity; DNA replication; Golgi apparatus; plasma membrane; membrane;
CUBN	5	protein homodimerization activity; Golgi apparatus; plasma membrane; membrane; small molecule metabolic process;
DGAT2	5	protein homodimerization activity; phospholipid metabolic process; glycerophospholipid biosynthetic process; perinuclear region of cytoplasm; small molecule metabolic process;
SCARB1	5	protein homodimerization activity; cell adhesion; plasma membrane; cell surface; small molecule metabolic process;
SLC1A3	5	synaptic transmission; plasma membrane; cell surface; membrane; response to wounding;
ENPP7	5	phospholipid metabolic process; Golgi apparatus; plasma membrane; membrane; small molecule metabolic process;
LPCAT1	5	phospholipid metabolic process; Golgi apparatus; glycerophospholipid biosynthetic process; small molecule metabolic process; retina development in camera-type eye;
PEMT	5	phospholipid metabolic process; phosphatidylcholine biosynthetic process; cell proliferation; glycerophospholipid biosynthetic process; small molecule metabolic process;
SLC44A1	5	phospholipid metabolic process; phosphatidylcholine biosynthetic process; plasma membrane; glycerophospholipid biosynthetic process; small molecule metabolic process;

Genes shared at least 2 KEGG pathways with ACHE (count: 0)

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Region: chr7:100487615..100494594 View in gBrowse