ADHDgene Database

Gene Report

Basic Info

Approved Symbol	SPTLC3
Previous Symbol	C20orf38, SPTLC2L
Symbol Alias	LCB2B, FLJ11112
Approved Name	serine palmitoyltransferase, long chain base subunit 3
Previous Name	chromosome 20 open reading frame 38, "serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"
Location	20p12.1
Position	chr20:12989627-13147411, +
External Links	HGNC: 16253 Entrez Gene: 55304 Ensembl: ENSG00000172296 UCSC: uc002wod.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_25	chr20:12795614-14242196 (NCBI Build 36.1 (hg18))	1394171	20p12.1	Gain

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 10)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0017059	serine C-palmitoyltransferase complex	Cellular Component	IDA[17331073]	2
GO:0030148	sphingolipid biosynthetic process	Biological Process		4
GO:0030170	pyridoxal phosphate binding	Molecular Function		12
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0005789	endoplasmic reticulum membrane	Cellular Component		140
GO:0006644	phospholipid metabolic process	Biological Process		59
GO:0006665	sphingolipid metabolic process	Biological Process		16
GO:0016021	integral to membrane	Cellular Component		845
GO:0004758	serine C-palmitoyltransferase activity	Molecular Function	IDA[19648650]	2
GO:0046520	sphingoid biosynthetic process	Biological Process	IDA[19648650]	1

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa00600	Sphingolipid metabolism	10
hsa01100	Metabolic pathways	237

Genes shared at least 5 GO terms with SPTLC3 (count: 4)

Gene Symbol	Pathway Count	Pathway List
SPTLC1	9	serine C-palmitoyltransferase complex; sphingolipid biosynthetic process; pyridoxal phosphate binding; small molecule metabolic process; endoplasmic reticulum membrane; phospholipid metabolic process; sphingolipid metabolic process; integral to membrane; serine C-palmitoyltransferase activity;
ACER3	5	sphingolipid biosynthetic process; small molecule metabolic process; endoplasmic reticulum membrane; phospholipid metabolic process; sphingolipid metabolic process;
SMPD4	5	small molecule metabolic process; endoplasmic reticulum membrane; phospholipid metabolic process; sphingolipid metabolic process; integral to membrane;
STS	5	small molecule metabolic process; endoplasmic reticulum membrane; phospholipid metabolic process; sphingolipid metabolic process; integral to membrane;

Genes shared at least 2 KEGG pathways with SPTLC3 (count: 7)

Gene Symbol	Pathway Count	Pathway List
B4GALT6	2	Sphingolipid metabolism; Metabolic pathways;
ENPP7	2	Sphingolipid metabolism; Metabolic pathways;
SMPD1	2	Sphingolipid metabolism; Metabolic pathways;
SMPD2	2	Sphingolipid metabolism; Metabolic pathways;
SMPD4	2	Sphingolipid metabolism; Metabolic pathways;
SPTLC1	2	Sphingolipid metabolism; Metabolic pathways;
UGCG	2	Sphingolipid metabolism; Metabolic pathways;

View in gBrowse

Region: chr20:12989627..13147411 View in gBrowse