ADHDgene Database

Gene Report

Basic Info

Approved Symbol	PTPRN2
Symbol Alias	KIAA0387, phogrin, ICAAR, IA-2beta
Approved Name	protein tyrosine phosphatase, receptor type, N polypeptide 2
Name Alias	IAR PTPRP
Location	7q36
Position	chr7:157331750-158380482, -
External Links	HGNC: 9677 Entrez Gene: 5799 Ensembl: ENSG00000155093 UCSC: uc003wno.2
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin; Mapped by CNV

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Lionel, A. C., 2011	Rare inherited CNVs in ADHD probands which absent in controls overlapped with PTPRN2, which indicate it a new candidate susceptibility gene for ADHD.	Trend

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Lionel[2011]_8	chr7:0-0 (NCBI36 / hg18)	1023	7q36.3	Gain	M

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 8)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0043195	terminal bouton	Cellular Component		11
GO:0006470	protein dephosphorylation	Biological Process	TAS[8798755]	18
GO:0030141	secretory granule	Cellular Component		17
GO:0030658	transport vesicle membrane	Cellular Component		4
GO:0034260	negative regulation of GTPase activity	Biological Process		4
GO:0005001	transmembrane receptor protein tyrosine phosphatase activity	Molecular Function	TAS[8798755]	5
GO:0005887	integral to plasma membrane	Cellular Component	TAS[8798755]	220
GO:0005788	endoplasmic reticulum lumen	Cellular Component		33

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04940	Type I diabetes mellitus	6	Type I diabetes mellitus is a disease that results from auto...... Type I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-presenting cell (APC), such as macrophages and dendritic cells, and presented in a complex with MHC-II molecules on the surface of the APC. Then immunogenic signals from APC activate CD4+ T cells, predominantly of the Th1 subset. Antigen-activated Th1 cells produce IL-2 and IFNgamma. They activate macrophages and cytotoxic CD8+ T cells, and these effector cells may kill islet beta-cells by one or both of two types of mechanisms: (1) direct interactions of antigen-specific cytotoxic T cells with a beta-cell autoantigen-MHC-I complex on the beta-cell, and (2) non-specific inflammatory mediators, such as free radicals/oxidants and cytokines (IL-1, TNFalpha, TNFbeta, IFNgamma). More...

Genes shared at least 5 GO terms with PTPRN2 (count: 0)

Genes shared at least 2 KEGG pathways with PTPRN2 (count: 0)

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Region: chr7:157331750..158380482 View in gBrowse