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	LPL
Previous Symbol	LIPD
Approved Name	lipoprotein lipase
Location	8p22
Position	chr8:19759228-19824770, +
External Links	HGNC: 6677 Entrez Gene: 4023 Ensembl: ENSG00000175445 UCSC: uc003wzk.3
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin; Mapped by LD-proxy; Mapped by PBA pathway; Mapped by literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Lasky-Su J, 2008	1 flanking SNPs of this gene with P-value<1E-5.	Trend

Gene related SNPs (count: 7)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs7816032	Chr8:19786891(Fwd)	intron_variant	1(0/0/1)

LD-proxies (count: 6)

rs_ID	Location	Functional Annotation
rs3779787	Chr8:19797916(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs3779788	Chr8:19803093(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs10104051	Chr8:19802402(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs1534649	Chr8:19799641(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs4466415	Chr8:19776981(Fwd)	intron_variant
rs28834434	Chr8:19774890(Fwd)	intron_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 33)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0016298	lipase activity	Molecular Function		49
GO:0004091	carboxylesterase activity	Molecular Function		40

GO terms by database search (count: 31)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0006641	triglyceride metabolic process	Biological Process	ISS[10727238]	8
GO:0006633	fatty acid biosynthetic process	Biological Process	IC[3973011]; IDA[182536]	16
GO:0008201	heparin binding	Molecular Function	IDA[12573449]	26
GO:0006644	phospholipid metabolic process	Biological Process	ISS[10727238]	59
GO:0010744	positive regulation of macrophage derived foam cell differentiation	Biological Process	IC[12573449]	4
GO:0009986	cell surface	Cellular Component		70
GO:0010890	positive regulation of sequestering of triglyceride	Biological Process	IMP[12573449]	2
GO:0010886	positive regulation of cholesterol storage	Biological Process	IMP[12573449]	3
GO:0017129	triglyceride binding	Molecular Function		1
GO:0019433	triglyceride catabolic process	Biological Process	IDA[182536]	7
GO:0019432	triglyceride biosynthetic process	Biological Process		12
GO:0031225	anchored to membrane	Cellular Component		29
GO:0031012	extracellular matrix	Cellular Component		28
GO:0034361	very-low-density lipoprotein particle	Cellular Component		6
GO:0034185	apolipoprotein binding	Molecular Function	IPI[15178420]	5
GO:0004465	lipoprotein lipase activity	Molecular Function	IDA[3973011]; ISS[10727238]	3
GO:0004620	phospholipase activity	Molecular Function	ISS[10727238]	4
GO:0004806	triglyceride lipase activity	Molecular Function	IDA[182536]; ISS[10727238]	10
GO:0005102	receptor binding	Molecular Function	IPI[10085125]	61
GO:0005515	protein binding	Molecular Function		910
GO:0005576	extracellular region	Cellular Component		240
GO:0005615	extracellular space	Cellular Component	IDA[12573449]	126
GO:0005886	plasma membrane	Cellular Component		772
GO:0006629	lipid metabolic process	Biological Process		51
GO:0070328	triglyceride homeostasis	Biological Process	IGI[17018885]	7
GO:0042627	chylomicron	Cellular Component		5
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0042157	lipoprotein metabolic process	Biological Process		11
GO:0042493	response to drug	Biological Process		68
GO:0034371	chylomicron remodeling	Biological Process	IC[3973011]	3
GO:0034372	very-low-density lipoprotein particle remodeling	Biological Process	IDA[3973011]	3

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05010	Alzheimer's disease	40	Alzheimer's disease (AD) is a chronic disorder that slowly d...... Alzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-beta (Abeta), a major component of senile plaques, has various pathological effects on cell and organelle function. The extracellular Abeta oligomers may activate caspases through activation of cell surface death receptors. Alternatively, intracellular Abeta may contribute to pathology by facilitating tau hyper-phosphorylation, disrupting mitochondria function, and triggering calcium dysfunction. To date genetic studies have revealed four genes that may be linked to autosomal dominant or familial early onset AD (FAD). These four genes include: amyloid precursor protein (APP), presenilin 1 (PS1), presenilin 2 (PS2) and apolipoprotein E (ApoE). All mutations associated with APP and PS proteins can lead to an increase in the production of Abeta peptides, specfically the more amyloidogenic form, Abeta42. FAD-linked PS1 mutation downregulates the unfolded protein response and leads to vulnerability to ER stress. More...
hsa00561	Glycerolipid metabolism	15
hsa03320	PPAR signaling pathway	12	Peroxisome proliferator-activated receptors (PPARs) are nucl...... Peroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) showing different expression patterns in vertebrates. Each of them is encoded in a separate gene and binds fatty acids and eicosanoids. PPARalpha plays a role in the clearance of circulating or cellular lipids via the regulation of gene expression involved in lipid metabolism in liver and skeletal muscle. PPARbeta/delta is involved in lipid oxidation and cell proliferation. PPARgamma promotes adipocyte differentiation to enhance blood glucose uptake. More...

Genes shared at least 5 GO terms with LPL (count: 40)

Gene Symbol	Pathway Count	Pathway List
APOC2	12	lipase activity; very-low-density lipoprotein particle; carboxylesterase activity; extracellular region; extracellular space; lipid metabolic process; triglyceride homeostasis; chylomicron; small molecule metabolic process; lipoprotein metabolic process; chylomicron remodeling; very-low-density lipoprotein particle remodeling;
APOA5	11	triglyceride metabolic process; heparin binding; triglyceride catabolic process; very-low-density lipoprotein particle; protein binding; extracellular region; extracellular space; triglyceride homeostasis; chylomicron; small molecule metabolic process; lipoprotein metabolic process;
APOC3	11	triglyceride metabolic process; triglyceride catabolic process; very-low-density lipoprotein particle; extracellular region; extracellular space; lipid metabolic process; triglyceride homeostasis; chylomicron; small molecule metabolic process; lipoprotein metabolic process; response to drug;
APOA4	10	cell surface; very-low-density lipoprotein particle; extracellular region; extracellular space; lipid metabolic process; chylomicron; small molecule metabolic process; lipoprotein metabolic process; chylomicron remodeling; very-low-density lipoprotein particle remodeling;
APOA1	10	very-low-density lipoprotein particle; protein binding; extracellular region; extracellular space; plasma membrane; lipid metabolic process; triglyceride homeostasis; small molecule metabolic process; lipoprotein metabolic process; response to drug;
PNLIPRP2	9	triglyceride metabolic process; lipase activity; carboxylesterase activity; phospholipase activity; triglyceride lipase activity; extracellular region; extracellular space; lipid metabolic process; small molecule metabolic process;
ACHE	9	phospholipid metabolic process; cell surface; anchored to membrane; carboxylesterase activity; protein binding; extracellular region; extracellular space; plasma membrane; small molecule metabolic process;
MGLL	8	fatty acid biosynthetic process; phospholipid metabolic process; lipase activity; triglyceride catabolic process; carboxylesterase activity; plasma membrane; lipid metabolic process; small molecule metabolic process;
PLA2G1B	8	fatty acid biosynthetic process; phospholipid metabolic process; lipase activity; carboxylesterase activity; receptor binding; extracellular region; extracellular space; small molecule metabolic process;
LIPG	8	heparin binding; lipase activity; carboxylesterase activity; lipoprotein lipase activity; phospholipase activity; triglyceride lipase activity; extracellular space; lipid metabolic process;
PLA2G5	8	heparin binding; phospholipid metabolic process; cell surface; lipase activity; carboxylesterase activity; extracellular region; plasma membrane; small molecule metabolic process;
SCARB1	8	cell surface; positive regulation of cholesterol storage; apolipoprotein binding; plasma membrane; lipid metabolic process; triglyceride homeostasis; small molecule metabolic process; lipoprotein metabolic process;
PLA2G10	7	phospholipid metabolic process; positive regulation of macrophage derived foam cell differentiation; lipase activity; carboxylesterase activity; phospholipase activity; extracellular region; small molecule metabolic process;
PLA2G2A	7	phospholipid metabolic process; positive regulation of macrophage derived foam cell differentiation; lipase activity; carboxylesterase activity; extracellular region; extracellular space; small molecule metabolic process;
PLA2G3	7	phospholipid metabolic process; lipase activity; carboxylesterase activity; extracellular region; extracellular space; plasma membrane; small molecule metabolic process;
PNPLA3	7	phospholipid metabolic process; lipase activity; triglyceride catabolic process; triglyceride biosynthetic process; carboxylesterase activity; triglyceride lipase activity; small molecule metabolic process;
LIPE	7	lipase activity; triglyceride catabolic process; carboxylesterase activity; triglyceride lipase activity; protein binding; lipid metabolic process; small molecule metabolic process;
CTSG	6	heparin binding; cell surface; extracellular matrix; extracellular region; extracellular space; plasma membrane;
FGF10	6	heparin binding; cell surface; extracellular matrix; extracellular region; extracellular space; plasma membrane;
PNLIP	6	lipase activity; carboxylesterase activity; triglyceride lipase activity; extracellular region; lipid metabolic process; small molecule metabolic process;
PNLIPRP1	6	lipase activity; carboxylesterase activity; triglyceride lipase activity; extracellular region; extracellular space; lipid metabolic process;
ABCA1	6	apolipoprotein binding; protein binding; plasma membrane; lipid metabolic process; small molecule metabolic process; lipoprotein metabolic process;
LIPF	5	triglyceride metabolic process; lipase activity; carboxylesterase activity; triglyceride lipase activity; extracellular region;
CTGF	5	heparin binding; extracellular region; extracellular space; plasma membrane; small molecule metabolic process;
FN1	5	heparin binding; extracellular matrix; protein binding; extracellular region; extracellular space;
SERPINC1	5	heparin binding; protein binding; extracellular region; extracellular space; plasma membrane;
VEGFA	5	heparin binding; cell surface; protein binding; extracellular region; extracellular space;
VEGFB	5	heparin binding; protein binding; extracellular region; extracellular space; response to drug;
INPPL1	5	phospholipid metabolic process; protein binding; plasma membrane; small molecule metabolic process; response to drug;
PLA2G2D	5	phospholipid metabolic process; lipase activity; carboxylesterase activity; extracellular region; small molecule metabolic process;
PLA2G2E	5	phospholipid metabolic process; lipase activity; carboxylesterase activity; extracellular region; small molecule metabolic process;
PLA2G4B	5	phospholipid metabolic process; lipase activity; carboxylesterase activity; extracellular region; small molecule metabolic process;
PLD2	5	phospholipid metabolic process; lipase activity; protein binding; plasma membrane; small molecule metabolic process;
SMPD1	5	phospholipid metabolic process; lipase activity; extracellular space; small molecule metabolic process; response to drug;
SNCA	5	phospholipid metabolic process; protein binding; extracellular region; plasma membrane; response to drug;
ENPP1	5	cell surface; protein binding; extracellular space; plasma membrane; small molecule metabolic process;
GHR	5	cell surface; protein binding; extracellular region; extracellular space; plasma membrane;
MIF	5	cell surface; receptor binding; protein binding; extracellular region; extracellular space;
AOAH	5	lipase activity; carboxylesterase activity; lipoprotein lipase activity; extracellular region; lipid metabolic process;
OGN	5	extracellular matrix; protein binding; extracellular region; extracellular space; small molecule metabolic process;

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

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Region: chr8:19759228..19824770 View in gBrowse