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	SMPD4
Symbol Alias	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13
Approved Name	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)
Location	2q21.1
Position	chr2:130908981-130940323, -1
External Links	HGNC: 32949 Entrez Gene: 55627 Ensembl: ENSG00000136699 UCSC: uc002tqr.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region; 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: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
2q21.1	chr2:129900000-132500000	1 (1/0/0)

Gene related GO terms (count: 17)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 17)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005794	Golgi apparatus	cellular component	IDA[16517606]	174
GO:0046475	glycerophospholipid catabolic process	biological process	IDA[16517606]	3
GO:0046872	metal ion binding	molecular function	IEA	200
GO:0004767	sphingomyelin phosphodiesterase activity	molecular function	TAS	5
GO:0044281	small molecule metabolic process	biological process	TAS	270
GO:0016021	integral to membrane	cellular component	IEA	932
GO:0006685	sphingomyelin catabolic process	biological process	IDA[16517606]	3
GO:0006665	sphingolipid metabolic process	biological process	TAS	17
GO:0046513	ceramide biosynthetic process	biological process	IDA[16517606]	3
GO:0071356	cellular response to tumor necrosis factor	biological process	IDA[16517606]	9
GO:0006644	phospholipid metabolic process	biological process	TAS	61
GO:0000139	Golgi membrane	cellular component	IEA	106
GO:0050290	sphingomyelin phosphodiesterase D activity	molecular function	IDA[16517606]	1
GO:0005789	endoplasmic reticulum membrane	cellular component	TAS	159
GO:0005802	trans-Golgi network	cellular component	IDA[16517606]	29
GO:0006687	glycosphingolipid metabolic process	biological process	TAS	10
GO:0005783	endoplasmic reticulum	cellular component	IDA[18505924]	111

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa00600	Sphingolipid metabolism	8

Genes shared at least 5 GO terms with SMPD4 (count: 20)

Gene Symbol	Pathway Count	Pathway List
STS	9	Golgi apparatus; metal ion binding; small molecule metabolic process; integral to membrane; sphingolipid metabolic process; phospholipid metabolic process; endoplasmic reticulum membrane; glycosphingolipid metabolic process; endoplasmic reticulum;
LPCAT1	7	Golgi apparatus; small molecule metabolic process; integral to membrane; phospholipid metabolic process; Golgi membrane; endoplasmic reticulum membrane; endoplasmic reticulum;
ENPP7	7	Golgi apparatus; sphingomyelin phosphodiesterase activity; small molecule metabolic process; integral to membrane; sphingolipid metabolic process; phospholipid metabolic process; glycosphingolipid metabolic process;
SMPD2	7	metal ion binding; sphingomyelin phosphodiesterase activity; small molecule metabolic process; sphingolipid metabolic process; ceramide biosynthetic process; phospholipid metabolic process; glycosphingolipid metabolic process;
SMPD1	7	sphingomyelin phosphodiesterase activity; small molecule metabolic process; sphingomyelin catabolic process; sphingolipid metabolic process; ceramide biosynthetic process; phospholipid metabolic process; glycosphingolipid metabolic process;
PRKD1	6	Golgi apparatus; metal ion binding; small molecule metabolic process; sphingolipid metabolic process; phospholipid metabolic process; trans-Golgi network;
ARSB	6	Golgi apparatus; metal ion binding; small molecule metabolic process; sphingolipid metabolic process; phospholipid metabolic process; glycosphingolipid metabolic process;
UGCG	6	small molecule metabolic process; integral to membrane; sphingolipid metabolic process; phospholipid metabolic process; Golgi membrane; glycosphingolipid metabolic process;
LMAN2L	5	Golgi apparatus; metal ion binding; integral to membrane; Golgi membrane; endoplasmic reticulum membrane;
PLD1	5	Golgi apparatus; small molecule metabolic process; phospholipid metabolic process; Golgi membrane; endoplasmic reticulum membrane;
PKMYT1	5	Golgi apparatus; metal ion binding; Golgi membrane; endoplasmic reticulum membrane; endoplasmic reticulum;
DSE	5	Golgi apparatus; small molecule metabolic process; integral to membrane; Golgi membrane; endoplasmic reticulum;
SUMF1	5	metal ion binding; small molecule metabolic process; sphingolipid metabolic process; phospholipid metabolic process; glycosphingolipid metabolic process;
ARSJ	5	metal ion binding; small molecule metabolic process; sphingolipid metabolic process; phospholipid metabolic process; glycosphingolipid metabolic process;
PNPLA8	5	small molecule metabolic process; integral to membrane; phospholipid metabolic process; Golgi membrane; endoplasmic reticulum membrane;
DGAT2	5	small molecule metabolic process; integral to membrane; phospholipid metabolic process; endoplasmic reticulum membrane; endoplasmic reticulum;
SPTLC1	5	small molecule metabolic process; integral to membrane; sphingolipid metabolic process; phospholipid metabolic process; endoplasmic reticulum membrane;
CDIPT	5	small molecule metabolic process; integral to membrane; phospholipid metabolic process; Golgi membrane; endoplasmic reticulum membrane;
SPTLC3	5	small molecule metabolic process; integral to membrane; sphingolipid metabolic process; phospholipid metabolic process; endoplasmic reticulum membrane;
TPTE2	5	small molecule metabolic process; integral to membrane; phospholipid metabolic process; Golgi membrane; endoplasmic reticulum membrane;

Genes shared at least 2 KEGG pathways with SMPD4 (count: 0)

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Region: chr2:130908981..130940323 View in gBrowse