ADHDgene Database

Gene Report

Basic Info

Approved Symbol	BSCL2
Previous Symbol	GNG3LG, SPG17
Approved Name	Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Previous Name	spastic paraplegia 17 (Silver syndrome)
Location	11q13
Position	chr11:62457747-62477317, -
External Links	HGNC: 15832 Entrez Gene: 26580 Ensembl: ENSG00000168000 UCSC: uc009yod.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)
11q	chr11:53700000-135006516	2 (1/1/0)

Gene related GO terms (count: 9)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0050995	negative regulation of lipid catabolic process	Biological Process		5
GO:0045444	fat cell differentiation	Biological Process		9
GO:0034389	lipid particle organization	Biological Process	IMP[19278620]	2
GO:0030176	integral to endoplasmic reticulum membrane	Cellular Component	IDA[14981520]	14
GO:0019915	lipid storage	Biological Process	IMP[19278620]	4
GO:0016042	lipid catabolic process	Biological Process		32
GO:0003674	molecular_function	Molecular Function		126
GO:0008150	biological_process	Biological Process		106
GO:0008219	cell death	Biological Process		33

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with BSCL2 (count: 0)

Genes shared at least 2 KEGG pathways with BSCL2 (count: 0)

View in gBrowse

Region: chr11:62457747..62477317 View in gBrowse