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	C6
Approved Name	complement component 6
Location	5
Position	chr5:41142336-41261540, -
External Links	HGNC: 1339 Entrez Gene: 729 UCSC: uc003jmk.2
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)
5p13	chr5:28900000-42500000	3 (1/1/1)

Gene related GO terms (count: 10)

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

GO terms by database search (count: 10)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0045087	innate immune response	Biological Process		54
GO:0045766	positive regulation of angiogenesis	Biological Process		12
GO:0019835	cytolysis	Biological Process		7
GO:0006958	complement activation, classical pathway	Biological Process		6
GO:0006956	complement activation	Biological Process	TAS[2808363]	4
GO:0005579	membrane attack complex	Cellular Component		4
GO:0005576	extracellular region	Cellular Component		240
GO:0005515	protein binding	Molecular Function	IPI[17474147]	910
GO:0001970	positive regulation of activation of membrane attack complex	Biological Process		1
GO:0001701	in utero embryonic development	Biological Process		32

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05020	Prion diseases	11	Prion diseases, also termed transmissible spongiform encepha...... Prion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of these diseases is thought to be associated with the conversion of a normal protein, PrPC, into an infectious, pathogenic form, PrPSc. The conversion is induced by prion infections (for example, variant Creutzfeldt-Jakob disease (vCJD), iatrogenic CJD, Kuru), mutations (familial CJD, Gerstmann-Straussler-Scheinker syndrome, fatal familial insomnia (FFI)) or unknown factors (sporadic CJD (sCJD)), and is thought to occur after PrPC has reached the plasma membrane or is re-internalized for degradation. The PrPSc form shows greater protease resistance than PrPC and accumulates in affected individuals, often in the form of extracellular plaques. Pathways that may lead to neuronal death comprise oxidative stress, regulated activation of complement, ubiquitin-proteasome and endosomal-lysosomal systems, synaptic alterations and dendritic atrophy, corticosteroid response, and endoplasmic reticulum stress. In addition, the conformational transition could lead to the lost of a beneficial activity of the natively folded protein, PrPC. More...
hsa05322	Systemic lupus erythematosus	19	Systemic lupus erythematosus (SLE) is a prototypic autoimmun...... Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and certain cytoplasmic components, in association with a diverse array of clinical manifestations. The primary pathological findings in patients with SLE are those of inflammation, vasculitis, immune complex deposition, and vasculopathy. Immune complexes comprising autoantibody and self-antigen is deposited particulary in the renal glomeruli and mediate a systemic inflammatory response by activating complement or via Fc{gamma}R-mediated neutrophil and macrophage activation. Activation of complement (C5) leads to injury both through formation of the membrane attack complex (C5b-9) or by generation of the anaphylatoxin and cell activator C5a. Neutrophils and macrophages cause tissue injury by the release of oxidants and proteases. More...
hsa04610	Complement and coagulation cascades	12	The complement system is a proteolytic cascade in blood plas...... The complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation: the classical pathway, the lectin pathway, and the alternative pathway. All of these pathways generate a crucial enzymatic activity that, in turn, generates the effector molecules of complement. The main consequences of complement activation are the opsonization of pathogens, the recruitment of inflammatory and immunocompetent cells, and the direct killing of pathogens. Blood coagulation is another series of proenzyme-to-serine protease conversions, culminating the formation of thrombin, the enzyme responsible for the conversion of soluble fibrinogen to the insoluble fibrin clot. Protease-activated receptors, such as those activated by thrombin, are members of G protein-coupled receptors and function as a mediator of innate immunity. The kallikrein-kinin system is an endogenous metabolic cascade, triggering of which results in the release of vasoactive kinins (bradykinin-related peptides). Kinin peptides are implicated in many physiological and pathological processes including the regulation of blood pressure and sodium homeostasis, inflammatory processes, and the cardioprotective effects of preconditioning. More...

Genes shared at least 5 GO terms with C6 (count: 4)

Gene Symbol	Pathway Count	Pathway List
C5	8	innate immune response; positive regulation of angiogenesis; cytolysis; complement activation, classical pathway; complement activation; membrane attack complex; extracellular region; in utero embryonic development;
C7	6	innate immune response; cytolysis; complement activation, classical pathway; complement activation; membrane attack complex; extracellular region;
C9	5	innate immune response; cytolysis; complement activation, classical pathway; membrane attack complex; extracellular region;
MASP2	5	innate immune response; complement activation, classical pathway; complement activation; extracellular region; protein binding;

Genes shared at least 2 KEGG pathways with C6 (count: 3)

Gene Symbol	Pathway Count	Pathway List
C5	3	Prion diseases; Systemic lupus erythematosus; Complement and coagulation cascades;
C7	3	Prion diseases; Systemic lupus erythematosus; Complement and coagulation cascades;
C9	3	Prion diseases; Systemic lupus erythematosus; Complement and coagulation cascades;

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Region: chr5:41142336..41261540 View in gBrowse