ADHDgene Database

Gene Report

Basic Info

Approved Symbol	MPV17L
Symbol Alias	FLJ39599, MLPH1, MLPH2, MPV17L1
Approved Name	MPV17 mitochondrial membrane protein-like
Location	16p13.11
Position	chr16:15489611-15503543, +
External Links	HGNC: 26827 Entrez Gene: 255027 Ensembl: ENSG00000156968 UCSC: uc002ddn.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV; Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 9)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_20	chr16:15408600-16190572 (NCBI Build 36.1 (hg18))	788434	16p13.11	Gain
CNV_Williams[2010]_53	chr16:15387380-16197033 (NCBI Build 36.1 (hg18))	809654	16p13.11	Gain	De novo
CNV_Williams[2010]_23	chr16:15387380-16190572 (NCBI Build 36.1 (hg18))	797807	16p13.11	Gain
CNV_Williams[2010]_21	chr16:15156431-18174650 (NCBI Build 36.1 (hg18))	3006995	16p13.11-16p12.3	Gain
CNV_Williams[2010]_42	chr16:15387380-16197033 (NCBI Build 36.1 (hg18))	809654	16p13.11	Gain
CNV_Jarick[2012]_33	chr16:15387380-16197033 (NCBI36 / hg18)	809654	16p13.11	del
CNV_Jarick[2012]_32	chr16:15034391-16197033 (NCBI36 / hg18)	1162643	16p13.11	dup
CNV_Jarick[2012]_31	chr16:15032942-16197033 (NCBI36 / hg18)	1164092	16p13.11	del
CNV_Williams[2010]_4	chr16:15398985-18174650 (NCBI Build 36.1 (hg18))	2775666	16p13.11-16p12.3	Gain	Maternal

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
16p13.11	chr16:14800000-16800000	1 (1/0/0)

Gene related GO terms (count: 8)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0003674	molecular_function	Molecular Function		126
GO:0005102	receptor binding	Molecular Function		61
GO:0005777	peroxisome	Cellular Component	IDA[16631601]	15
GO:0005778	peroxisomal membrane	Cellular Component		8
GO:0010730	negative regulation of hydrogen peroxide biosynthetic process	Biological Process		1
GO:0016021	integral to membrane	Cellular Component		845
GO:0072593	reactive oxygen species metabolic process	Biological Process	IDA[16631601]	7
GO:1901029	negative regulation of mitochondrial outer membrane permeabilization	Biological Process		1

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04146	Peroxisome	9	Peroxisomes are essential organelles that play a key role in...... Peroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ether lipids and free radical detoxification. The biogenesis of peroxisomes starts with the early peroxins PEX3, PEX16 and PEX19 and proceeds via several steps. The import of membrane proteins into peroxisomes needs PEX19 for recognition, targeting and insertion via docking at PEX3. Matrix proteins in the cytosol are recognized by peroxisomal targeting signals (PTS) and transported to the docking complex at the peroxisomal membrane. Peroxisomes' deficiencies lead to severe and often fatal inherited peroxisomal disorders (PD). PDs are usually classified in two groups. The first group is disorders of peroxisome biogenesis which include Zellweger syndrome, and the second group is single peroxisomal enzyme deficiencies. More...

Genes shared at least 5 GO terms with MPV17L (count: 0)

Genes shared at least 2 KEGG pathways with MPV17L (count: 0)

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Region: chr16:15489611..15503543 View in gBrowse