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	MAVS
Symbol Alias	VISA, KIAA1271, IPS-1, Cardif
Approved Name	mitochondrial antiviral signaling protein
Name Alias	virus-induced signaling adaptor, "IFN-B promoter stimulator 1", "CARD adaptor inducing IFN-beta"
Location	20p13
Position	chr20:3827449-3856762, +
External Links	HGNC: 29233 Entrez Gene: 57506 Ensembl: ENSG00000088888 UCSC: uc002wjw.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_35	chr20:3036010-3839896 (NCBI Build 36.1 (hg18))	803887	20p13	Loss	De novo

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 32)

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

GO terms by database search (count: 32)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0032728	positive regulation of interferon-beta production	Biological Process	IDA[16127453]; IMP[19631370]	3
GO:0032727	positive regulation of interferon-alpha production	Biological Process	IDA[16127453]; IMP[19609254]	3
GO:0032480	negative regulation of type I interferon production	Biological Process		10
GO:0031966	mitochondrial membrane	Cellular Component		12
GO:0019901	protein kinase binding	Molecular Function	IPI[16127453]	51
GO:0019048	virus-host interaction	Biological Process		54
GO:0016021	integral to membrane	Cellular Component		845
GO:0007165	signal transduction	Biological Process		171
GO:0045087	innate immune response	Biological Process	IMP[19631370]	54
GO:0045071	negative regulation of viral genome replication	Biological Process		4
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB cascade	Biological Process	IMP[12761501]	27
GO:0042993	positive regulation of transcription factor import into nucleus	Biological Process	IDA[18818105]	1
GO:0042742	defense response to bacterium	Biological Process	IMP[19631370]	11
GO:0033160	positive regulation of protein import into nucleus, translocation	Biological Process	IDA[18818105]	3
GO:0032760	positive regulation of tumor necrosis factor production	Biological Process	IDA[16127453]	9
GO:0032757	positive regulation of interleukin-8 production	Biological Process	IDA[16127453]	5
GO:0071651	positive regulation of chemokine (C-C motif) ligand 5 production	Biological Process	IDA[16127453]	1
GO:0071660	positive regulation of IP-10 production	Biological Process	IDA[16127453]	1
GO:0060340	positive regulation of type I interferon-mediated signaling pathway	Biological Process	IDA[16127453]	3
GO:0071360	cellular response to exogenous dsRNA	Biological Process	IMP[16127453]	1
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	Biological Process	IDA[16127453]	11
GO:0051607	defense response to virus	Biological Process		15
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process	IDA[18818105]	131
GO:0050700	CARD domain binding	Molecular Function	IPI[16127453]	2
GO:1900063	regulation of peroxisome organization	Biological Process		1
GO:0004871	signal transducer activity	Molecular Function		49
GO:0005515	protein binding	Molecular Function	IPI[16127453]	910
GO:0005741	mitochondrial outer membrane	Cellular Component	IDA[18818105]	21
GO:0005778	peroxisomal membrane	Cellular Component		8
GO:0001934	positive regulation of protein phosphorylation	Biological Process	IDA[16127453]	22
GO:0002218	activation of innate immune response	Biological Process	IMP[18818105]	3
GO:0002230	positive regulation of defense response to virus by host	Biological Process	IDA[16127453]; IMP[19609254]	3

Gene related KEGG pathways (count: 4)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05160	Hepatitis C	17	Hepatitis C virus (HCV) is a major cause of chronic liver di...... Hepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the cytoplasm of the host cell and forms membrane-associated replication complexes along with non-structural proteins. Viral RNA can trigger the RIG-I pathway and interferon production during this process. Translated HCV protein products regulate immune response to inhibit the action of interferon. HCV core and NS5A proteins appear to be the most important molecules with regulatory functions that modulate transcription, cellular proliferation, and apoptosis. More...
hsa04622	RIG-I-like receptor signaling pathway	10	Specific families of pattern recognition receptors are respo...... Specific families of pattern recognition receptors are responsible for detecting viral pathogens and generating innate immune responses. Non-self RNA appearing in a cell as a result of intracellular viral replication is recognized by a family of cytosolic RNA helicases termed RIG-I-like receptors (RLRs). The RLR proteins include RIG-I, MDA5, and LGP2 and are expressed in both immune and nonimmune cells. Upon recognition of viral nucleic acids, RLRs recruit specific intracellular adaptor proteins to initiate signaling pathways that lead to the synthesis of type I interferon and other inflammatory cytokines, which are important for eliminating viruses. More...
hsa04623	Cytosolic DNA-sensing pathway	9	Specific families of pattern recognition receptors are respo...... Specific families of pattern recognition receptors are responsible for detecting foreign DNA from invading microbes or host cells and generating innate immune responses. DAI is the first identified sensor of cytosolic DNA which activates the IRF and NF-{kappa}B transcription factors, leading to production of type I interferon and other cytokines. The second type of cytoplasmic DNA sensor is AIM2. Upon sensing DNA, AIM2 triggers the assembly of the inflammasome, culminating in interleukin maturation. In addition to these receptors, there is a mechanism to sense foreign DNA, with the host RNA polymerase III converting the DNA into RNA for recognition by the RNA sensor RIG-I. These pathways provide various means to alert the cell. More...
hsa05162	Measles	20	Measles virus (MV) is highly contagious virus that leads inf...... Measles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacterial infections. Several MV proteins have been suggested to disturb host immunity. After infection of host lymphoid cells via SLAM, MV inhibits cytokine response by direct interference with host signaling systems. Three proteins (P, V, and C) associate with Jak/STAT proteins in interferon-triggered pathway and other important proteins related to apoptosis. Interaction between MV and host brings about the shift towards a Th2 response by decreasing IL-12 production and induces lymphopenia by suppressing cell proliferation. More...

Genes shared at least 5 GO terms with MAVS (count: 18)

Gene Symbol	Pathway Count	Pathway List
TLR4	9	positive regulation of interferon-beta production; positive regulation of interferon-alpha production; innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; defense response to bacterium; positive regulation of tumor necrosis factor production; positive regulation of interleukin-8 production; positive regulation of transcription from RNA polymerase II promoter; protein binding;
FADD	9	virus-host interaction; innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of tumor necrosis factor production; positive regulation of interleukin-8 production; positive regulation of type I interferon-mediated signaling pathway; defense response to virus; positive regulation of transcription from RNA polymerase II promoter; protein binding;
PYCARD	8	signal transduction; innate immune response; positive regulation of tumor necrosis factor production; positive regulation of sequence-specific DNA binding transcription factor activity; defense response to virus; protein binding; activation of innate immune response; positive regulation of defense response to virus by host;
RELA	7	protein kinase binding; virus-host interaction; innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; defense response to virus; positive regulation of transcription from RNA polymerase II promoter; protein binding;
IRF7	6	positive regulation of interferon-beta production; positive regulation of interferon-alpha production; innate immune response; positive regulation of type I interferon-mediated signaling pathway; positive regulation of transcription from RNA polymerase II promoter; protein binding;
TRIM5	6	virus-host interaction; innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; defense response to virus; protein binding; activation of innate immune response;
NLRX1	5	negative regulation of type I interferon production; virus-host interaction; innate immune response; protein binding; mitochondrial outer membrane;
UBB	5	negative regulation of type I interferon production; innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of transcription from RNA polymerase II promoter; protein binding;
UBC	5	negative regulation of type I interferon production; innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of transcription from RNA polymerase II promoter; protein binding;
BNIP3	5	mitochondrial membrane; virus-host interaction; defense response to virus; protein binding; mitochondrial outer membrane;
NEK6	5	protein kinase binding; signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transducer activity; protein binding;
SYK	5	protein kinase binding; virus-host interaction; innate immune response; defense response to bacterium; protein binding;
MAPK3	5	virus-host interaction; innate immune response; positive regulation of transcription from RNA polymerase II promoter; protein binding; positive regulation of protein phosphorylation;
TNFRSF11A	5	integral to membrane; signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of sequence-specific DNA binding transcription factor activity; protein binding;
TRIM13	5	integral to membrane; signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transducer activity; protein binding;
GJA1	5	signal transduction; positive regulation of I-kappaB kinase/NF-kappaB cascade; signal transducer activity; protein binding; mitochondrial outer membrane;
PRKD1	5	signal transduction; innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of transcription from RNA polymerase II promoter; protein binding;
TIRAP	5	innate immune response; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of tumor necrosis factor production; positive regulation of interleukin-8 production; protein binding;

Genes shared at least 2 KEGG pathways with MAVS (count: 9)

Gene Symbol	Pathway Count	Pathway List
IRF7	4	Hepatitis C; RIG-I-like receptor signaling pathway; Cytosolic DNA-sensing pathway; Measles;
RELA	4	Hepatitis C; RIG-I-like receptor signaling pathway; Cytosolic DNA-sensing pathway; Measles;
GSK3B	2	Hepatitis C; Measles;
IRF9	2	Hepatitis C; Measles;
MAPK9	2	Hepatitis C; RIG-I-like receptor signaling pathway;
PIK3CG	2	Hepatitis C; Measles;
PIK3R1	2	Hepatitis C; Measles;
IL12B	2	RIG-I-like receptor signaling pathway; Measles;
IL6	2	Cytosolic DNA-sensing pathway; Measles;

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Region: chr20:3827449..3856762 View in gBrowse