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	DSE
Previous Symbol	SART2
Symbol Alias	DSEPI
Approved Name	dermatan sulfate epimerase
Previous Name	squamous cell carcinoma antigen recognized by T cells 2
Location	6q22
Position	chr6:116601283-116759445, +
External Links	HGNC: 21144 Entrez Gene: 29940 Ensembl: ENSG00000111817 UCSC: uc003pws.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

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)
6q22-23	chr6:114600000-139000000	1 (1/0/0)

Gene related GO terms (count: 12)

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

GO terms by database search (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005794	Golgi apparatus	Cellular Component	IDA[10679095]	157
GO:0005783	endoplasmic reticulum	Cellular Component	IDA[10679095]	100
GO:0000139	Golgi membrane	Cellular Component		95
GO:0030203	glycosaminoglycan metabolic process	Biological Process		20
GO:0016021	integral to membrane	Cellular Component		845
GO:0015012	heparan sulfate proteoglycan biosynthetic process	Biological Process		3
GO:0005975	carbohydrate metabolic process	Biological Process		50
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0047757	chondroitin-glucuronate 5-epimerase activity	Molecular Function	IDA[16505484]	1
GO:0030208	dermatan sulfate biosynthetic process	Biological Process	IDA[16505484]	1
GO:0030206	chondroitin sulfate biosynthetic process	Biological Process		4
GO:0030204	chondroitin sulfate metabolic process	Biological Process		7

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa00532	Glycosaminoglycan biosynthesis - chondroitin sulfate	5	Glycosaminoglycans (GAGs) are linear polysaccharide chains c...... Glycosaminoglycans (GAGs) are linear polysaccharide chains consisting of repeating disaccharide units and form proteglycans by covalently attaching to their core proteins. Chondroitin sulfate (CS) is a glycosaminoglycan with the disaccharide unit GalNAc(b1-4)GlcA(b1-3), modified with ester-linked sulfate at certain positions. Dermatan sulfate (DS) is a modified form of CS, in which a portion of D-glucuronate residues is epimerized to L-iduronates. CS and DS are linked to serine residues in core proteins via a linkage tetrasaccharide formed by the transfer of xylose and three more residues [MD:M00057]. The assembly process of CS is initiated by the transfer of N-acetylgalactosamine to the linkage tetrasaccharide. The polymerization step is catalyzed by bifunctional enzymes (chondroitin synthases) that have both b1-3 glucuronosyltransferase and b1-4 N-acetylgalactosaminyltransferase activities [MD:M00058]. Chondroitin polymerization also requires the action of the chondroitin polymerizing factor. Sulfation of chondroitin in vertebrates is a complex process, with multiple sulfotransferases involved in 4-O sulfation and 6-O sulfation of N-acetylgalactosamine residues. Additional enzymes exist for epimerization of glucuronic acid to iduronic acid in DS, sulfation at the C-2 position of the uronic acids, and other patterns of sulfation found in unusual species of chondroitin. More...

Genes shared at least 5 GO terms with DSE (count: 12)

Gene Symbol	Pathway Count	Pathway List
B3GAT3	8	Golgi apparatus; Golgi membrane; glycosaminoglycan metabolic process; integral to membrane; heparan sulfate proteoglycan biosynthetic process; carbohydrate metabolic process; small molecule metabolic process; chondroitin sulfate metabolic process;
CHPF	7	Golgi membrane; glycosaminoglycan metabolic process; integral to membrane; carbohydrate metabolic process; small molecule metabolic process; chondroitin sulfate biosynthetic process; chondroitin sulfate metabolic process;
CHST9	7	Golgi membrane; glycosaminoglycan metabolic process; integral to membrane; carbohydrate metabolic process; small molecule metabolic process; chondroitin sulfate biosynthetic process; chondroitin sulfate metabolic process;
CHST5	6	Golgi apparatus; Golgi membrane; glycosaminoglycan metabolic process; integral to membrane; carbohydrate metabolic process; small molecule metabolic process;
CHST6	6	Golgi apparatus; Golgi membrane; glycosaminoglycan metabolic process; integral to membrane; carbohydrate metabolic process; small molecule metabolic process;
B3GAT1	6	Golgi membrane; glycosaminoglycan metabolic process; integral to membrane; carbohydrate metabolic process; small molecule metabolic process; chondroitin sulfate metabolic process;
LPCAT1	5	Golgi apparatus; endoplasmic reticulum; Golgi membrane; integral to membrane; small molecule metabolic process;
SMPD4	5	Golgi apparatus; endoplasmic reticulum; Golgi membrane; integral to membrane; small molecule metabolic process;
B4GALT4	5	Golgi membrane; glycosaminoglycan metabolic process; integral to membrane; carbohydrate metabolic process; small molecule metabolic process;
B4GALT6	5	Golgi membrane; glycosaminoglycan metabolic process; integral to membrane; carbohydrate metabolic process; small molecule metabolic process;
HS3ST2	5	Golgi membrane; glycosaminoglycan metabolic process; integral to membrane; carbohydrate metabolic process; small molecule metabolic process;
HS3ST5	5	Golgi membrane; glycosaminoglycan metabolic process; integral to membrane; carbohydrate metabolic process; small molecule metabolic process;

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

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Region: chr6:116601283..116759445 View in gBrowse