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	ARHGEF4
Symbol Alias	STM6, KIAA1112, ASEF
Approved Name	Rho guanine nucleotide exchange factor (GEF) 4
Name Alias	APC-stimulated guanine nucleotide exchange factor
Location	2q22
Position	chr2:131594489-131804836, +
External Links	HGNC: 684 Entrez Gene: 50649 Ensembl: ENSG00000136002
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: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Jarick[2012]_5	chr2:131198948-131951456 (NCBI36 / hg18)	752509	2q21.1	dup

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
2q21.1	chr2:129900000-132500000	1 (1/0/0)

Gene related GO terms (count: 16)

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

GO terms by database search (count: 16)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005089	Rho guanyl-nucleotide exchange factor activity	Molecular Function		11
GO:0005515	protein binding	Molecular Function	IPI[17588722]	910
GO:0005543	phospholipid binding	Molecular Function		61
GO:0005829	cytosol	Cellular Component		447
GO:0006915	apoptotic process	Biological Process		111
GO:0007264	small GTPase mediated signal transduction	Biological Process		58
GO:0019904	protein domain specific binding	Molecular Function	IPI[10947987]	40
GO:0030032	lamellipodium assembly	Biological Process	IMP[17599059]	8
GO:0030676	Rac guanyl-nucleotide exchange factor activity	Molecular Function	IMP[17599059]	3
GO:0032587	ruffle membrane	Cellular Component		12
GO:0035023	regulation of Rho protein signal transduction	Biological Process		9
GO:0035556	intracellular signal transduction	Biological Process		44
GO:0046847	filopodium assembly	Biological Process	IMP[17599059]	5
GO:0048011	nerve growth factor receptor signaling pathway	Biological Process		42
GO:0051056	regulation of small GTPase mediated signal transduction	Biological Process		30
GO:0005085	guanyl-nucleotide exchange factor activity	Molecular Function	IMP[17599059]	17

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04810	Regulation of actin cytoskeleton	48

Genes shared at least 5 GO terms with ARHGEF4 (count: 13)

Gene Symbol	Pathway Count	Pathway List
ARHGEF2	11	Rho guanyl-nucleotide exchange factor activity; protein binding; phospholipid binding; cytosol; apoptotic process; small GTPase mediated signal transduction; Rac guanyl-nucleotide exchange factor activity; ruffle membrane; regulation of Rho protein signal transduction; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction;
TRIO	10	Rho guanyl-nucleotide exchange factor activity; protein binding; phospholipid binding; cytosol; apoptotic process; small GTPase mediated signal transduction; regulation of Rho protein signal transduction; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction; guanyl-nucleotide exchange factor activity;
ARHGEF12	9	Rho guanyl-nucleotide exchange factor activity; protein binding; phospholipid binding; cytosol; apoptotic process; small GTPase mediated signal transduction; regulation of Rho protein signal transduction; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction;
FGD3	9	Rho guanyl-nucleotide exchange factor activity; phospholipid binding; cytosol; apoptotic process; small GTPase mediated signal transduction; filopodium assembly; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction; guanyl-nucleotide exchange factor activity;
TIAM2	9	Rho guanyl-nucleotide exchange factor activity; phospholipid binding; cytosol; apoptotic process; small GTPase mediated signal transduction; regulation of Rho protein signal transduction; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction; guanyl-nucleotide exchange factor activity;
ARHGEF17	8	Rho guanyl-nucleotide exchange factor activity; cytosol; apoptotic process; small GTPase mediated signal transduction; regulation of Rho protein signal transduction; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction; guanyl-nucleotide exchange factor activity;
NET1	8	Rho guanyl-nucleotide exchange factor activity; phospholipid binding; cytosol; apoptotic process; small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction; guanyl-nucleotide exchange factor activity;
SPATA13	8	protein binding; phospholipid binding; lamellipodium assembly; Rac guanyl-nucleotide exchange factor activity; ruffle membrane; regulation of Rho protein signal transduction; filopodium assembly; guanyl-nucleotide exchange factor activity;
MCF2L	7	Rho guanyl-nucleotide exchange factor activity; cytosol; apoptotic process; small GTPase mediated signal transduction; regulation of Rho protein signal transduction; nerve growth factor receptor signaling pathway; regulation of small GTPase mediated signal transduction;
BAD	5	protein binding; phospholipid binding; cytosol; apoptotic process; nerve growth factor receptor signaling pathway;
MAPK1	5	protein binding; cytosol; apoptotic process; small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway;
MAPK3	5	protein binding; cytosol; apoptotic process; small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway;
SQSTM1	5	protein binding; cytosol; apoptotic process; intracellular signal transduction; nerve growth factor receptor signaling pathway;

Genes shared at least 2 KEGG pathways with ARHGEF4 (count: 0)

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Region: chr2:131594489..131804836 View in gBrowse