ADHDgene Database

Hot Results

Quick Search

Keyword:
Type:

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	PTPRJ
Symbol Alias	DEP1, HPTPeta, CD148
Approved Name	protein tyrosine phosphatase, receptor type, J
Location	11p11.2
Position	chr11:48002110-48192394, +
External Links	HGNC: 9673 Entrez Gene: 5795 Ensembl: ENSG00000149177 UCSC: uc001ngp.3
No. of Studies	1 (significant: 0; non-significant: 1; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Hinney, A., 2011	This GWAS in a small group of clinically ascertained young German patients with ADHD and population-based controls did not reveal genome-wide significant findings. Replication attempts in further German and international samples did also not lead to a P-value(s) below 5E-08.	Non-significant

Gene related SNPs (count: 28)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs3741410	Chr11:48168664(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)

LD-proxies (count: 27)

rs_ID	Location	Functional Annotation
rs10742829	Chr11:48115837(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs1532754	Chr11:48115279(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs3942852	Chr11:48115089(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs1910364	Chr11:48113232(Fwd)	intron_variant; nc_transcript_variant
rs10838805	Chr11:48118993(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs4752806	Chr11:48118199(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs1503190	Chr11:48117873(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs1503188	Chr11:48117478(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs4752807	Chr11:48128751(Fwd)	intron_variant; nc_transcript_variant
rs10734562	Chr11:48128189(Fwd)	intron_variant; nc_transcript_variant
rs7117386	Chr11:48125371(Fwd)	intron_variant; nc_transcript_variant
rs11039515	Chr11:48119474(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs10769317	Chr11:48150712(Fwd)	intron_variant
rs2279823	Chr11:48146092(Fwd)	downstream_gene_variant; intron_variant
rs4752897	Chr11:48136990(Fwd)	intron_variant; nc_transcript_variant
rs1875696	Chr11:48133526(Fwd)	intron_variant; nc_transcript_variant
rs10742834	Chr11:48169717(Fwd)	intron_variant; nc_transcript_variant
rs1566729	Chr11:48164721(Fwd)	intron_variant; upstream_gene_variant
rs1566728	Chr11:48164847(Fwd)	intron_variant; upstream_gene_variant
rs2047812	Chr11:48162042(Fwd)	intron_variant; upstream_gene_variant
rs7947811	Chr11:48167738(Fwd)	intron_variant; nc_transcript_variant
rs7948129	Chr11:48167828(Fwd)	intron_variant; nc_transcript_variant
rs1039481	Chr11:48182237(Fwd)	intron_variant
rs7113857	Chr11:48141859(Fwd)	intron_variant; nc_transcript_variant
rs2270993	Chr11:48145166(Fwd)	downstream_gene_variant; splice_region_variant; synonymous_variant
rs7129364	Chr11:48150576(Fwd)	intron_variant
rs17198985	Chr11:48183565(Fwd)	intron_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 38)

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

GO terms by database search (count: 38)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:2000272	negative regulation of receptor activity	Biological Process		1
GO:0070097	delta-catenin binding	Molecular Function	IPI[19332538]	2
GO:0060242	contact inhibition	Biological Process	NAS[7937872]	2
GO:0004725	protein tyrosine phosphatase activity	Molecular Function	IDA[10821867]; IMP[9780142]	19
GO:0001772	immunological synapse	Cellular Component	IDA[12913111]	5
GO:0001570	vasculogenesis	Biological Process		10
GO:0008285	negative regulation of cell proliferation	Biological Process	IDA[14709717]	59
GO:0009986	cell surface	Cellular Component	IDA[12913111]	70
GO:0010572	positive regulation of platelet activation	Biological Process		2
GO:0010642	negative regulation of platelet-derived growth factor receptor signaling pathway	Biological Process	IDA[14709717]	3
GO:0010759	positive regulation of macrophage chemotaxis	Biological Process		2
GO:0016791	phosphatase activity	Molecular Function	IDA[12370829]; IMP[11259588]	5
GO:0019901	protein kinase binding	Molecular Function	IPI[19332538]	51
GO:0030155	regulation of cell adhesion	Biological Process	IMP[12370829]	8
GO:0005161	platelet-derived growth factor receptor binding	Molecular Function	IPI[10821867]	2
GO:0005515	protein binding	Molecular Function	IPI[19167335]	910
GO:0005886	plasma membrane	Cellular Component	IDA[9531590]	772
GO:0005887	integral to plasma membrane	Cellular Component	TAS[7937872]	220
GO:0005911	cell-cell junction	Cellular Component	IDA[12370829]	20
GO:0007507	heart development	Biological Process		23
GO:0007596	blood coagulation	Biological Process		83
GO:0008013	beta-catenin binding	Molecular Function	IPI[12370829]	10
GO:0048008	platelet-derived growth factor receptor signaling pathway	Biological Process		2
GO:0045785	positive regulation of cell adhesion	Biological Process		7
GO:0050918	positive chemotaxis	Biological Process	IDA[14709717]	7
GO:0050860	negative regulation of T cell receptor signaling pathway	Biological Process	IDA[12913111]; IMP[11259588]	2
GO:0051894	positive regulation of focal adhesion assembly	Biological Process		4
GO:0051019	mitogen-activated protein kinase binding	Molecular Function	IPI[19494114]	4
GO:0051898	negative regulation of protein kinase B signaling cascade	Biological Process	IMP[19922411]	6
GO:0051897	positive regulation of protein kinase B signaling cascade	Biological Process	IMP[18936167]	17
GO:0030336	negative regulation of cell migration	Biological Process	IDA[16682945]	13
GO:0030308	negative regulation of cell growth	Biological Process	IDA[14709717]	21
GO:0035335	peptidyl-tyrosine dephosphorylation	Biological Process	IDA[10821867]; IMP[9780142]	11
GO:0032587	ruffle membrane	Cellular Component		12
GO:0043116	negative regulation of vascular permeability	Biological Process	IDA[19332538]	4
GO:0042059	negative regulation of epidermal growth factor receptor signaling pathway	Biological Process	IMP[19836242]	6
GO:0045295	gamma-catenin binding	Molecular Function	IPI[12370829]	6
GO:0043407	negative regulation of MAP kinase activity	Biological Process	IDA[19494114]	7

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04520	Adherens junction	14	Cell-cell adherens junctions (AJs), the most common type of ...... Cell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation. At AJs, E-cadherin serves as an essential cell adhesion molecules (CAMs). The cytoplasmic tail binds beta-catenin, which in turn binds alpha-catenin. Alpha-catenin is associated with F-actin bundles directly and indirectly. The integrity of the cadherin-catenin complex is negatively regulated by phosphorylation of beta-catenin by receptor tyrosine kinases (RTKs) and cytoplasmic tyrosine kinases (Fer, Fyn, Yes, and Src), which leads to dissociation of the cadherin-catenin complex. Integrity of this complex is positively regulated by beta -catenin phosphorylation by casein kinase II, and dephosphorylation by protein tyrosine phosphatases. Changes in the phosphorylation state of beta-catenin affect cell-cell adhesion, cell migration and the level of signaling beta-catenin. Wnt signaling acts as a positive regulator of beta-catenin by inhibiting beta-catenin degradation, which stabilizes beta-catenin, and causes its accumulation. Cadherin may acts as a negative regulator of signaling beta-catenin as it binds beta-catenin at the cell surface and thereby sequesters it from the nucleus. Nectins also function as CAMs at AJs, but are more highly concentrated at AJs than E-cadherin. Nectins transduce signals through Cdc42 and Rac, which reorganize the actin cytoskeleton, regulate the formation of AJs, and strengthen cell-cell adhesion. More...

Genes shared at least 5 GO terms with PTPRJ (count: 21)

Gene Symbol	Pathway Count	Pathway List
PTPRK	11	protein tyrosine phosphatase activity; negative regulation of cell proliferation; cell surface; protein kinase binding; protein binding; integral to plasma membrane; cell-cell junction; beta-catenin binding; negative regulation of cell migration; peptidyl-tyrosine dephosphorylation; gamma-catenin binding;
VEGFA	8	vasculogenesis; cell surface; platelet-derived growth factor receptor binding; protein binding; blood coagulation; positive regulation of cell adhesion; positive chemotaxis; positive regulation of focal adhesion assembly;
APC	8	negative regulation of cell proliferation; protein kinase binding; protein binding; plasma membrane; beta-catenin binding; positive regulation of cell adhesion; ruffle membrane; gamma-catenin binding;
FZD4	6	vasculogenesis; cell surface; protein binding; plasma membrane; integral to plasma membrane; cell-cell junction;
ADORA2A	6	negative regulation of cell proliferation; protein binding; plasma membrane; integral to plasma membrane; blood coagulation; negative regulation of vascular permeability;
DRD2	6	negative regulation of cell proliferation; protein binding; plasma membrane; integral to plasma membrane; negative regulation of protein kinase B signaling cascade; negative regulation of cell migration;
ADAM17	6	cell surface; protein binding; plasma membrane; integral to plasma membrane; cell-cell junction; ruffle membrane;
ADAM8	6	cell surface; protein binding; plasma membrane; integral to plasma membrane; positive regulation of cell adhesion; positive regulation of protein kinase B signaling cascade;
THY1	6	protein kinase binding; protein binding; plasma membrane; integral to plasma membrane; negative regulation of T cell receptor signaling pathway; negative regulation of cell migration;
FLCN	6	protein binding; plasma membrane; positive regulation of cell adhesion; negative regulation of protein kinase B signaling cascade; negative regulation of cell migration; negative regulation of cell growth;
GJA1	5	negative regulation of cell proliferation; protein binding; plasma membrane; integral to plasma membrane; heart development;
INPPL1	5	negative regulation of cell proliferation; negative regulation of platelet-derived growth factor receptor signaling pathway; protein binding; plasma membrane; negative regulation of MAP kinase activity;
MAGI2	5	negative regulation of cell proliferation; protein binding; plasma membrane; negative regulation of protein kinase B signaling cascade; negative regulation of cell migration;
NF2	5	negative regulation of cell proliferation; protein binding; plasma membrane; negative regulation of cell migration; ruffle membrane;
GHR	5	cell surface; protein kinase binding; protein binding; plasma membrane; integral to plasma membrane;
TRPC4	5	cell surface; protein binding; plasma membrane; cell-cell junction; beta-catenin binding;
ADRA2A	5	protein kinase binding; protein binding; plasma membrane; integral to plasma membrane; blood coagulation;
BCAR1	5	protein kinase binding; protein binding; plasma membrane; blood coagulation; platelet-derived growth factor receptor signaling pathway;
GSK3B	5	protein kinase binding; protein binding; plasma membrane; beta-catenin binding; negative regulation of MAP kinase activity;
ILK	5	protein kinase binding; protein binding; plasma membrane; cell-cell junction; positive regulation of protein kinase B signaling cascade;
ARRB2	5	protein binding; plasma membrane; blood coagulation; mitogen-activated protein kinase binding; positive regulation of protein kinase B signaling cascade;

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

View in gBrowse

Region: chr11:48002110..48192394 View in gBrowse