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	MASP2
Previous Symbol	MASP1P1
Approved Name	mannan-binding lectin serine peptidase 2
Previous Name	mannan-binding lectin serine protease 2, "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"
Location	1p36.3-p36.2
Position	chr1:11086062-11107296, -
External Links	HGNC: 6902 Entrez Gene: 10747 Ensembl: ENSG00000009724 UCSC: uc001aru.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by literature SNP

Gene related studies (count: 0)

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs11689432	Chr1:11082610(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; missense_variant; upstream_gene_variant	1(1/0/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 11)

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

GO terms by database search (count: 11)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0006956	complement activation	Biological Process		4
GO:0006958	complement activation, classical pathway	Biological Process		6
GO:0008233	peptidase activity	Molecular Function	IDA[10946292]	15
GO:0045087	innate immune response	Biological Process		54
GO:0005509	calcium ion binding	Molecular Function		124
GO:0005515	protein binding	Molecular Function	IPI[10946292]	910
GO:0005576	extracellular region	Cellular Component		240
GO:0006508	proteolysis	Biological Process		102
GO:0004252	serine-type endopeptidase activity	Molecular Function	IDA[9087411]	29
GO:0001867	complement activation, lectin pathway	Biological Process	IDA[17182967]	1
GO:0048306	calcium-dependent protein binding	Molecular Function	IPI[12421953]	5

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05150	Staphylococcus aureus infection	11	Staphylococcus aureus can cause multiple forms of infections...... Staphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the effectiveness of the immune system: secreting immune modulating proteins that inhibit complement activation and neutrophil chemotaxis or lysis, modulating the sensitivity to cationic antimicrobial peptides (such as defensin) by increasing the positive net charge of its cytoplasmic membrane, and expression of superantigens that prevent development of a normal immune response or cause an emetic response when ingested. 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 MASP2 (count: 2)

Gene Symbol	Pathway Count	Pathway List
C6	5	complement activation; complement activation, classical pathway; innate immune response; protein binding; extracellular region;
F10	5	calcium ion binding; protein binding; extracellular region; proteolysis; serine-type endopeptidase activity;

Genes shared at least 2 KEGG pathways with MASP2 (count: 2)

Gene Symbol	Pathway Count	Pathway List
C3AR1	2	Staphylococcus aureus infection; Complement and coagulation cascades;
C5	2	Staphylococcus aureus infection; Complement and coagulation cascades;

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Region: chr1:11086062..11107296 View in gBrowse