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	PNPLA3
Previous Symbol	C22orf20, ADPN
Symbol Alias	dJ796I17.1, FLJ22012, adiponutrin
Approved Name	patatin-like phospholipase domain containing 3
Previous Name	chromosome 22 open reading frame 20, "adiponutrin"
Location	22q13.31
Position	chr22:44319619-44360368, +
External Links	HGNC: 18590 Entrez Gene: 80339 Ensembl: ENSG00000100344 UCSC: uc003bei.1
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: 16)

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

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

GO terms by database search (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0051265	diolein transacylation activity	Molecular Function	IDA[15364929]	1
GO:0051264	mono-olein transacylation activity	Molecular Function	IDA[15364929]	1
GO:0050253	retinyl-palmitate esterase activity	Molecular Function		9
GO:0005789	endoplasmic reticulum membrane	Cellular Component		140
GO:0006644	phospholipid metabolic process	Biological Process		59
GO:0004623	phospholipase A2 activity	Molecular Function	IDA[15364929]	10
GO:0004806	triglyceride lipase activity	Molecular Function	IDA[15364929]	10
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0046474	glycerophospholipid biosynthetic process	Biological Process		30
GO:0019433	triglyceride catabolic process	Biological Process	IDA[15364929]	7
GO:0036155	acylglycerol acyl-chain remodeling	Biological Process		3
GO:0019432	triglyceride biosynthetic process	Biological Process	IDA[15364929]	12
GO:0016020	membrane	Cellular Component		139
GO:0016021	integral to membrane	Cellular Component		845

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa01100	Metabolic pathways	237
hsa00561	Glycerolipid metabolism	15

Genes shared at least 5 GO terms with PNPLA3 (count: 34)

Gene Symbol	Pathway Count	Pathway List
MGLL	8	endoplasmic reticulum membrane; phospholipid metabolic process; carboxylesterase activity; small molecule metabolic process; glycerophospholipid biosynthetic process; triglyceride catabolic process; acylglycerol acyl-chain remodeling; lipase activity;
PNPLA8	8	endoplasmic reticulum membrane; phospholipid metabolic process; carboxylesterase activity; small molecule metabolic process; glycerophospholipid biosynthetic process; lipase activity; membrane; integral to membrane;
DGAT2	7	endoplasmic reticulum membrane; phospholipid metabolic process; small molecule metabolic process; glycerophospholipid biosynthetic process; acylglycerol acyl-chain remodeling; triglyceride biosynthetic process; integral to membrane;
PLA2G2A	7	endoplasmic reticulum membrane; phospholipid metabolic process; phospholipase A2 activity; carboxylesterase activity; small molecule metabolic process; glycerophospholipid biosynthetic process; lipase activity;
PLA2G4C	7	endoplasmic reticulum membrane; phospholipid metabolic process; carboxylesterase activity; small molecule metabolic process; glycerophospholipid biosynthetic process; lipase activity; membrane;
LPL	7	phospholipid metabolic process; triglyceride lipase activity; carboxylesterase activity; small molecule metabolic process; triglyceride catabolic process; lipase activity; triglyceride biosynthetic process;
PLA2G6	7	phospholipid metabolic process; phospholipase A2 activity; carboxylesterase activity; small molecule metabolic process; glycerophospholipid biosynthetic process; lipase activity; membrane;
AADAC	6	retinyl-palmitate esterase activity; endoplasmic reticulum membrane; triglyceride lipase activity; carboxylesterase activity; lipase activity; integral to membrane;
LPCAT1	6	endoplasmic reticulum membrane; phospholipid metabolic process; small molecule metabolic process; glycerophospholipid biosynthetic process; triglyceride biosynthetic process; integral to membrane;
LPCAT4	6	endoplasmic reticulum membrane; phospholipid metabolic process; small molecule metabolic process; glycerophospholipid biosynthetic process; triglyceride biosynthetic process; integral to membrane;
PLD1	6	endoplasmic reticulum membrane; phospholipid metabolic process; small molecule metabolic process; glycerophospholipid biosynthetic process; lipase activity; membrane;
PLD3	6	endoplasmic reticulum membrane; phospholipid metabolic process; small molecule metabolic process; glycerophospholipid biosynthetic process; lipase activity; integral to membrane;
PLA2G10	6	phospholipid metabolic process; phospholipase A2 activity; carboxylesterase activity; small molecule metabolic process; glycerophospholipid biosynthetic process; lipase activity;
PLA2G1B	6	phospholipid metabolic process; phospholipase A2 activity; carboxylesterase activity; small molecule metabolic process; glycerophospholipid biosynthetic process; lipase activity;
PLA2G2D	6	phospholipid metabolic process; phospholipase A2 activity; carboxylesterase activity; small molecule metabolic process; glycerophospholipid biosynthetic process; lipase activity;
PLA2G2E	6	phospholipid metabolic process; phospholipase A2 activity; carboxylesterase activity; small molecule metabolic process; glycerophospholipid biosynthetic process; lipase activity;
PNLIP	5	retinyl-palmitate esterase activity; triglyceride lipase activity; carboxylesterase activity; small molecule metabolic process; lipase activity;
PNLIPRP2	5	retinyl-palmitate esterase activity; triglyceride lipase activity; carboxylesterase activity; small molecule metabolic process; lipase activity;
CDIPT	5	endoplasmic reticulum membrane; phospholipid metabolic process; small molecule metabolic process; glycerophospholipid biosynthetic process; integral to membrane;
LPIN1	5	endoplasmic reticulum membrane; phospholipid metabolic process; small molecule metabolic process; glycerophospholipid biosynthetic process; triglyceride biosynthetic process;
MBOAT1	5	endoplasmic reticulum membrane; phospholipid metabolic process; small molecule metabolic process; glycerophospholipid biosynthetic process; integral to membrane;
MBOAT2	5	endoplasmic reticulum membrane; phospholipid metabolic process; small molecule metabolic process; glycerophospholipid biosynthetic process; integral to membrane;
PEMT	5	endoplasmic reticulum membrane; phospholipid metabolic process; small molecule metabolic process; glycerophospholipid biosynthetic process; integral to membrane;
PLD2	5	endoplasmic reticulum membrane; phospholipid metabolic process; small molecule metabolic process; glycerophospholipid biosynthetic process; lipase activity;
SMPD4	5	endoplasmic reticulum membrane; phospholipid metabolic process; small molecule metabolic process; lipase activity; integral to membrane;
STS	5	endoplasmic reticulum membrane; phospholipid metabolic process; small molecule metabolic process; membrane; integral to membrane;
ACHE	5	phospholipid metabolic process; carboxylesterase activity; small molecule metabolic process; glycerophospholipid biosynthetic process; membrane;
ENPP7	5	phospholipid metabolic process; small molecule metabolic process; lipase activity; membrane; integral to membrane;
GPAT2	5	phospholipid metabolic process; small molecule metabolic process; glycerophospholipid biosynthetic process; triglyceride biosynthetic process; integral to membrane;
PLA2G16	5	phospholipid metabolic process; phospholipase A2 activity; small molecule metabolic process; glycerophospholipid biosynthetic process; integral to membrane;
PLA2G3	5	phospholipid metabolic process; carboxylesterase activity; small molecule metabolic process; glycerophospholipid biosynthetic process; lipase activity;
PLA2G4B	5	phospholipid metabolic process; carboxylesterase activity; small molecule metabolic process; glycerophospholipid biosynthetic process; lipase activity;
PLA2G5	5	phospholipid metabolic process; carboxylesterase activity; small molecule metabolic process; glycerophospholipid biosynthetic process; lipase activity;
LIPE	5	triglyceride lipase activity; carboxylesterase activity; small molecule metabolic process; triglyceride catabolic process; lipase activity;

Genes shared at least 2 KEGG pathways with PNPLA3 (count: 13)

Gene Symbol	Pathway Count	Pathway List
ALDH3A2	2	Metabolic pathways; Glycerolipid metabolism;
DAK	2	Metabolic pathways; Glycerolipid metabolism;
DGAT2	2	Metabolic pathways; Glycerolipid metabolism;
DGKH	2	Metabolic pathways; Glycerolipid metabolism;
GPAT2	2	Metabolic pathways; Glycerolipid metabolism;
LIPF	2	Metabolic pathways; Glycerolipid metabolism;
LIPG	2	Metabolic pathways; Glycerolipid metabolism;
MBOAT1	2	Metabolic pathways; Glycerolipid metabolism;
MBOAT2	2	Metabolic pathways; Glycerolipid metabolism;
MGLL	2	Metabolic pathways; Glycerolipid metabolism;
PNLIP	2	Metabolic pathways; Glycerolipid metabolism;
PNLIPRP1	2	Metabolic pathways; Glycerolipid metabolism;
PNLIPRP2	2	Metabolic pathways; Glycerolipid metabolism;

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Region: chr22:44319619..44360368 View in gBrowse