ADHDgene Database

Gene Report

Basic Info

Approved Symbol	PXMP2
Symbol Alias	PMP22
Approved Name	peroxisomal membrane protein 2, 22kDa
Previous Name	peroxisomal membrane protein 2 (22kD)
Location	12q24
Position	chr12:133264192-133297414, +
External Links	HGNC: 9716 Entrez Gene: 5827 Ensembl: ENSG00000176894 UCSC: uc001ukt.2
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_Lionel[2011]_22	chr12:0-0 (NCBI36 / hg18)	211	12q24.33	Gain	P

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 7)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005737	cytoplasm	Cellular Component	IDA[8624723]	690
GO:0005739	mitochondrion	Cellular Component		183
GO:0005778	peroxisomal membrane	Cellular Component	IDA[11590176]	8
GO:0008150	biological_process	Biological Process		106
GO:0016021	integral to membrane	Cellular Component		845
GO:0043234	protein complex	Cellular Component	IDA[18174172]	45
GO:0005515	protein binding	Molecular Function	IPI[16683188]	910

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 PXMP2 (count: 0)

Genes shared at least 2 KEGG pathways with PXMP2 (count: 0)

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Region: chr12:133264192..133297414 View in gBrowse