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	ARHGEF12
Symbol Alias	KIAA0382, LARG
Approved Name	Rho guanine nucleotide exchange factor (GEF) 12
Location	11q23.3
Position	chr11:120207787-120360645, +
External Links	HGNC: 14193 Entrez Gene: 23365 Ensembl: ENSG00000196914 UCSC: uc001pxl.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
11q	chr11:53700000-135006516	2 (1/1/0)

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:0051056	regulation of small GTPase mediated signal transduction	Biological Process		30
GO:0048011	nerve growth factor receptor signaling pathway	Biological Process		42
GO:0038032	termination of G-protein coupled receptor signaling pathway	Biological Process		9
GO:0035023	regulation of Rho protein signal transduction	Biological Process		9
GO:0016020	membrane	Cellular Component		139
GO:0007411	axon guidance	Biological Process		65
GO:0007264	small GTPase mediated signal transduction	Biological Process		58
GO:0007186	G-protein coupled receptor signaling pathway	Biological Process	IDA[15755723]	72
GO:0006915	apoptotic process	Biological Process		111
GO:0005829	cytosol	Cellular Component		447
GO:0005737	cytoplasm	Cellular Component	IDA[15755723]	690
GO:0005543	phospholipid binding	Molecular Function		61
GO:0005515	protein binding	Molecular Function		910
GO:0005096	GTPase activator activity	Molecular Function		23
GO:0005089	Rho guanyl-nucleotide exchange factor activity	Molecular Function		11
GO:0001664	G-protein coupled receptor binding	Molecular Function	IDA[15755723]	8

Gene related KEGG pathways (count: 4)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05152	Tuberculosis	30	Tuberculosis, or TB, is an infectious disease caused by Myco...... Tuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent infections, and about 10% of latent infections develop active diseases when their immune system is impaired due to the age, other diseases such as AIDS or exposure to immunosuppressive drugs. TB is transmitted through the air and primarily attacks the lungs, then it can spread by the circulatory system to other parts of body. Once TB bacilli have entered the host by the respiratory route and infected macrophages in the lungs, they interfere with phagosomal maturation, antigen presentation, apoptosis and host immune system to establish persistent or latent infection. More...
hsa04270	Vascular smooth muscle contraction	33	The vascular smooth muscle cell (VSMC) is a highly specializ...... The vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regulate the blood flow and pressure. More...
hsa04360	Axon guidance	25	Axon guidance represents a key stage in the formation of neu...... Axon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are read by growth cone receptors, and signal transduction pathways downstream of these receptors converge onto the Rho GTPases to elicit changes in cytoskeletal organization that determine which way the growth cone will turn. More...
hsa04810	Regulation of actin cytoskeleton	48

Genes shared at least 5 GO terms with ARHGEF12 (count: 21)

Gene Symbol	Pathway Count	Pathway List
TIAM2	10	regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; regulation of Rho protein signal transduction; membrane; small GTPase mediated signal transduction; apoptotic process; cytosol; phospholipid binding; GTPase activator activity; Rho guanyl-nucleotide exchange factor activity;
TRIO	10	regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; regulation of Rho protein signal transduction; axon guidance; small GTPase mediated signal transduction; apoptotic process; cytosol; phospholipid binding; protein binding; Rho guanyl-nucleotide exchange factor activity;
ARHGEF2	9	regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; regulation of Rho protein signal transduction; small GTPase mediated signal transduction; apoptotic process; cytosol; phospholipid binding; protein binding; Rho guanyl-nucleotide exchange factor activity;
ARHGEF4	9	regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; regulation of Rho protein signal transduction; small GTPase mediated signal transduction; apoptotic process; cytosol; phospholipid binding; protein binding; Rho guanyl-nucleotide exchange factor activity;
FGD3	8	regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; small GTPase mediated signal transduction; apoptotic process; cytosol; cytoplasm; phospholipid binding; Rho guanyl-nucleotide exchange factor activity;
ARHGEF17	7	regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; regulation of Rho protein signal transduction; small GTPase mediated signal transduction; apoptotic process; cytosol; Rho guanyl-nucleotide exchange factor activity;
MCF2L	7	regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; regulation of Rho protein signal transduction; small GTPase mediated signal transduction; apoptotic process; cytosol; Rho guanyl-nucleotide exchange factor activity;
NET1	7	regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; small GTPase mediated signal transduction; apoptotic process; cytosol; phospholipid binding; Rho guanyl-nucleotide exchange factor activity;
ADRBK1	7	nerve growth factor receptor signaling pathway; termination of G-protein coupled receptor signaling pathway; membrane; cytosol; cytoplasm; phospholipid binding; protein binding;
MAPK1	7	nerve growth factor receptor signaling pathway; axon guidance; small GTPase mediated signal transduction; apoptotic process; cytosol; cytoplasm; protein binding;
MAPK3	6	nerve growth factor receptor signaling pathway; axon guidance; small GTPase mediated signal transduction; apoptotic process; cytosol; protein binding;
ARHGAP20	5	regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; cytosol; phospholipid binding; GTPase activator activity;
ARHGAP32	5	regulation of small GTPase mediated signal transduction; small GTPase mediated signal transduction; cytosol; protein binding; GTPase activator activity;
ARHGAP5	5	regulation of small GTPase mediated signal transduction; membrane; small GTPase mediated signal transduction; cytosol; cytoplasm;
CHN2	5	regulation of small GTPase mediated signal transduction; membrane; small GTPase mediated signal transduction; cytosol; GTPase activator activity;
BAD	5	nerve growth factor receptor signaling pathway; apoptotic process; cytosol; phospholipid binding; protein binding;
BCAR1	5	nerve growth factor receptor signaling pathway; G-protein coupled receptor signaling pathway; cytosol; cytoplasm; protein binding;
GSK3B	5	nerve growth factor receptor signaling pathway; axon guidance; cytosol; cytoplasm; protein binding;
PIK3CG	5	membrane; G-protein coupled receptor signaling pathway; cytosol; cytoplasm; protein binding;
PAK1	5	axon guidance; apoptotic process; cytosol; cytoplasm; protein binding;
PRKD1	5	apoptotic process; cytosol; cytoplasm; phospholipid binding; protein binding;

Genes shared at least 2 KEGG pathways with ARHGEF12 (count: 8)

Gene Symbol	Pathway Count	Pathway List
MAPK1	4	Tuberculosis; Vascular smooth muscle contraction; Axon guidance; Regulation of actin cytoskeleton;
MAPK3	4	Tuberculosis; Vascular smooth muscle contraction; Axon guidance; Regulation of actin cytoskeleton;
ROCK2	3	Vascular smooth muscle contraction; Axon guidance; Regulation of actin cytoskeleton;
PPP3R2	2	Tuberculosis; Axon guidance;
PPP1CA	2	Vascular smooth muscle contraction; Regulation of actin cytoskeleton;
CFL1	2	Axon guidance; Regulation of actin cytoskeleton;
PAK1	2	Axon guidance; Regulation of actin cytoskeleton;
PAK7	2	Axon guidance; Regulation of actin cytoskeleton;

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Region: chr11:120207787..120360645 View in gBrowse