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	MYH11
Symbol Alias	SMMHC, SMHC
Approved Name	myosin, heavy chain 11, smooth muscle
Previous Name	myosin, heavy polypeptide 11, smooth muscle
Location	16p13.11
Position	chr16:15796992-15950890, -
External Links	HGNC: 7569 Entrez Gene: 4629 Ensembl: ENSG00000133392 UCSC: uc002ddx.2
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: 9)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_20	chr16:15408600-16190572 (NCBI Build 36.1 (hg18))	788434	16p13.11	Gain
CNV_Williams[2010]_53	chr16:15387380-16197033 (NCBI Build 36.1 (hg18))	809654	16p13.11	Gain	De novo
CNV_Williams[2010]_23	chr16:15387380-16190572 (NCBI Build 36.1 (hg18))	797807	16p13.11	Gain
CNV_Williams[2010]_21	chr16:15156431-18174650 (NCBI Build 36.1 (hg18))	3006995	16p13.11-16p12.3	Gain
CNV_Williams[2010]_42	chr16:15387380-16197033 (NCBI Build 36.1 (hg18))	809654	16p13.11	Gain
CNV_Jarick[2012]_33	chr16:15387380-16197033 (NCBI36 / hg18)	809654	16p13.11	del
CNV_Jarick[2012]_32	chr16:15034391-16197033 (NCBI36 / hg18)	1162643	16p13.11	dup
CNV_Jarick[2012]_31	chr16:15032942-16197033 (NCBI36 / hg18)	1164092	16p13.11	del
CNV_Williams[2010]_4	chr16:15398985-18174650 (NCBI Build 36.1 (hg18))	2775666	16p13.11-16p12.3	Gain	Maternal

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
16p13.11	chr16:14800000-16800000	1 (1/0/0)

Gene related GO terms (count: 18)

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

GO terms by database search (count: 18)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0042470	melanosome	Cellular Component		22
GO:0032982	myosin filament	Cellular Component		2
GO:0048739	cardiac muscle fiber development	Biological Process	IMP[16444274]	3
GO:0048251	elastic fiber assembly	Biological Process	IMP[16444274]	1
GO:0008307	structural constituent of muscle	Molecular Function	IMP[16444274]	7
GO:0007411	axon guidance	Biological Process		65
GO:0030485	smooth muscle contractile fiber	Cellular Component		1
GO:0030241	skeletal muscle myosin thick filament assembly	Biological Process		2
GO:0005859	muscle myosin complex	Cellular Component		2
GO:0005829	cytosol	Cellular Component		447
GO:0006939	smooth muscle contraction	Biological Process		10
GO:0006936	muscle contraction	Biological Process		18
GO:0003779	actin binding	Molecular Function		46
GO:0005515	protein binding	Molecular Function	IPI[19328794]	910
GO:0005516	calmodulin binding	Molecular Function		32
GO:0005524	ATP binding	Molecular Function		228
GO:0001725	stress fiber	Cellular Component		3
GO:0003774	motor activity	Molecular Function		5

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05416	Viral myocarditis	7	Myocarditis is a cardiac disease associated with inflammatio...... Myocarditis is a cardiac disease associated with inflammation and injury of the myocardium. It results from various etiologies, both noninfectious and infectious, but coxsackievirus B3 (CVB3) is still considered the dominant etiological agent. Myocarditis may be caused by direct cytopathic effects of virus, a pathologic immune response to persistent virus, or autoimmunity triggered by the viral infection. The virus enters the myocyte through internalization of the coxsackie-adenoviral receptor (CAR) and its coreceptor, decay-accelerating factor (DAF). Viral proteases cleave various proteins in the host cell. One example is viral protease 2A, which cleaves eukaryote initiation factor 4G (eIF4G) and the dystrophin protein, resulting in a complete shutdown of cap-dependent RNA translation and cytoskeletal destruction in infected cardiomyocytes, respectively. CVB3 also cleaves the member of the Bcl-2 family Bid, leading to apoptosis. CVB3 infection also induces the cleavage of cyclin D protein through a proteasome-dependent pathway, leading to the host cell-growth arrest. Viral infection and necrosis of myocytes may lead to the release of intracellular antigens, resulting in activation of self-reactive T cells. CVB infection is a significant cause of dilated cardiomyopathy (DCM) as well as myocarditis. Epidemiologically, myocarditis underlies a significant portion of patients with DCM. 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...
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 MYH11 (count: 3)

Gene Symbol	Pathway Count	Pathway List
MYO7A	5	melanosome; cytosol; protein binding; calmodulin binding; ATP binding;
TCAP	5	cardiac muscle fiber development; structural constituent of muscle; skeletal muscle myosin thick filament assembly; cytosol; protein binding;
ROCK2	5	axon guidance; cytosol; smooth muscle contraction; protein binding; ATP binding;

Genes shared at least 2 KEGG pathways with MYH11 (count: 1)

Gene Symbol	Pathway Count	Pathway List
PRKCB	2	Vascular smooth muscle contraction; Tight junction;

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Region: chr16:15796992..15950890 View in gBrowse