ADHDgene Database

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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	MAGI2
Symbol Alias	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2
Approved Name	membrane associated guanylate kinase, WW and PDZ domain containing 2
Location	7q21
Position	chr7:77646374-79082890, -
External Links	HGNC: 18957 Entrez Gene: 9863 Ensembl: ENSG00000187391 UCSC: uc003ugx.2
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
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
Stergiakouli E., 2012	One of the top 20 independent SNPs with P=0.00000838 locates intronic relative to this gene.	Trend

Gene related SNPs (count: 10)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs3779312	Chr7:77711756(Fwd)	intron_variant; nc_transcript_variant	1(0/0/1)

LD-proxies (count: 9)

rs_ID	Location	Functional Annotation
rs4590377	Chr7:77707557(Fwd)	downstream_gene_variant; intron_variant
rs17593991	Chr7:77738994(Fwd)	intron_variant; nc_transcript_variant
rs3779310	Chr7:77714080(Fwd)	intron_variant; nc_transcript_variant
rs11761568	Chr7:77713358(Fwd)	intron_variant; nc_transcript_variant
rs3779308	Chr7:77714178(Fwd)	intron_variant; nc_transcript_variant
rs3779309	Chr7:77714115(Fwd)	intron_variant; nc_transcript_variant
rs7807726	Chr7:77711367(Fwd)	intron_variant; nc_transcript_variant
rs3807747	Chr7:77713196(Fwd)	intron_variant; nc_transcript_variant
rs10229186	Chr7:77712972(Fwd)	intron_variant; nc_transcript_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 27)

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

GO terms by database search (count: 27)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0030159	receptor signaling complex scaffold activity	Molecular Function	IDA[11526121]	8
GO:0030336	negative regulation of cell migration	Biological Process		13
GO:0014069	postsynaptic density	Cellular Component		23
GO:0019902	phosphatase binding	Molecular Function	IPI[10760291]	5
GO:0005923	tight junction	Cellular Component	IDA[10760291]	15
GO:0008285	negative regulation of cell proliferation	Biological Process		59
GO:0005737	cytoplasm	Cellular Component	IDA[11526121]	690
GO:0005886	plasma membrane	Cellular Component	IDA[10760291]	772
GO:0005515	protein binding	Molecular Function	IPI[16316992]	910
GO:0005634	nucleus	Cellular Component	IDA[10760291]	770
GO:0003402	planar cell polarity pathway involved in axis elongation	Biological Process		1
GO:0004871	signal transducer activity	Molecular Function		49
GO:0002092	positive regulation of receptor internalization	Biological Process	IDA[11526121]	7
GO:0072015	glomerular visceral epithelial cell development	Biological Process		1
GO:0071850	mitotic cell cycle arrest	Biological Process		2
GO:0070699	type II activin receptor binding	Molecular Function		1
GO:0060395	SMAD protein signal transduction	Biological Process		1
GO:0051898	negative regulation of protein kinase B signaling cascade	Biological Process	IDA[10760291]	6
GO:0051291	protein heterooligomerization	Biological Process		10
GO:0048471	perinuclear region of cytoplasm	Cellular Component		87
GO:0046332	SMAD binding	Molecular Function		5
GO:0045202	synapse	Cellular Component		31
GO:0043113	receptor clustering	Biological Process		3
GO:0036057	slit diaphragm	Cellular Component		2
GO:0032926	negative regulation of activin receptor signaling pathway	Biological Process		1
GO:0032516	positive regulation of phosphoprotein phosphatase activity	Biological Process	IDA[10760291]	1
GO:0031697	beta-1 adrenergic receptor binding	Molecular Function	IPI[11526121]	1

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04530	Tight junction	18	Epithelial tight junctions (TJs) are composed of at least th...... Epithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of many different proteins that form large complexes. The transmembrane proteins mediate cell adhesion and are thought to constitute the intramembrane and paracellular diffusion barriers. The cytoplasmic 'plaque' contains three major multi-protein complexes consisting largely of scaffolding proteins, the ZO protein complex, the CRB3-Pals1-PATJ complex and the PAR-3-aPKC-PAR-6 complex. The ZO protein complex appears to organize the transmembrane proteins and couple them to other cytoplasmic proteins and to actin microfilaments. Two evolutionarily conserved protein complexes, the CRB3 and PAR complexes are involved in the establishment and maintenance of epithelial cell polarity. Besides these three protein complexes which seem to be constitutively associated at TJs, a number of proteins with different functions has been identified at TJs. These include additional scaffolding proteins like MUPP1 and MAGI-1, adaptor proteins, transcription regulators and RNA processing factors, regulatory proteins like small GTPases and G-proteins, kinases and phosphatases, and heat shock proteins. These are proposed to be involved in junction assembly, barrier regulation, gene transcription, and perhaps other, presently undefined pathways. More...

Genes shared at least 5 GO terms with MAGI2 (count: 24)

Gene Symbol	Pathway Count	Pathway List
DRD2	7	negative regulation of cell migration; postsynaptic density; negative regulation of cell proliferation; plasma membrane; protein binding; positive regulation of receptor internalization; negative regulation of protein kinase B signaling cascade;
NF2	7	negative regulation of cell migration; negative regulation of cell proliferation; cytoplasm; plasma membrane; protein binding; nucleus; perinuclear region of cytoplasm;
FLCN	6	negative regulation of cell migration; cytoplasm; plasma membrane; protein binding; nucleus; negative regulation of protein kinase B signaling cascade;
ARRB2	6	postsynaptic density; cytoplasm; plasma membrane; protein binding; nucleus; positive regulation of receptor internalization;
APC	6	tight junction; negative regulation of cell proliferation; cytoplasm; plasma membrane; protein binding; nucleus;
MALT1	6	cytoplasm; plasma membrane; protein binding; nucleus; signal transducer activity; perinuclear region of cytoplasm;
NCK1	5	receptor signaling complex scaffold activity; cytoplasm; plasma membrane; protein binding; nucleus;
PTPRJ	5	negative regulation of cell migration; negative regulation of cell proliferation; plasma membrane; protein binding; negative regulation of protein kinase B signaling cascade;
SYTL2	5	phosphatase binding; cytoplasm; plasma membrane; protein binding; nucleus;
TJP1	5	tight junction; cytoplasm; plasma membrane; protein binding; nucleus;
FRK	5	negative regulation of cell proliferation; cytoplasm; plasma membrane; protein binding; nucleus;
AIP	5	cytoplasm; plasma membrane; protein binding; nucleus; signal transducer activity;
APBB1	5	cytoplasm; plasma membrane; protein binding; nucleus; synapse;
CBL	5	cytoplasm; plasma membrane; protein binding; nucleus; signal transducer activity;
EHD3	5	cytoplasm; plasma membrane; protein binding; nucleus; perinuclear region of cytoplasm;
GSK3B	5	cytoplasm; plasma membrane; protein binding; nucleus; perinuclear region of cytoplasm;
ILK	5	cytoplasm; plasma membrane; protein binding; signal transducer activity; protein heterooligomerization;
LPXN	5	cytoplasm; plasma membrane; protein binding; nucleus; perinuclear region of cytoplasm;
PDE2A	5	cytoplasm; plasma membrane; protein binding; nucleus; perinuclear region of cytoplasm;
SNAP25	5	cytoplasm; plasma membrane; protein binding; perinuclear region of cytoplasm; synapse;
SNCA	5	cytoplasm; plasma membrane; protein binding; nucleus; perinuclear region of cytoplasm;
STXBP3	5	cytoplasm; plasma membrane; protein binding; nucleus; protein heterooligomerization;
TPPP	5	cytoplasm; plasma membrane; protein binding; nucleus; perinuclear region of cytoplasm;
ACHE	5	plasma membrane; protein binding; nucleus; perinuclear region of cytoplasm; synapse;

Genes shared at least 2 KEGG pathways with MAGI2 (count: 0)

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Region: chr7:77646374..79082890 View in gBrowse