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	PYCARD
Symbol Alias	TMS-1, CARD5, ASC
Approved Name	PYD and CARD domain containing
Location	16p11.2
Position	chr16:31212807-31214313, -
External Links	HGNC: 16608 Entrez Gene: 29108 Ensembl: ENSG00000103490 UCSC: uc010cak.2
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: 2)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_34	chr16:29342178-31155425 (NCBI Build 36.1 (hg18))	1813248	16p11.2	Loss	De novo
CNV_Williams[2010]_39	chr16:29342178-31155425 (NCBI Build 36.1 (hg18))	1813247	16p11.2	Gain

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 69)

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

GO terms by database search (count: 69)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	Biological Process	IDA[15030775]	7
GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB cascade	Biological Process	IDA[12486103]	5
GO:0044444	cytoplasmic part	Cellular Component	IDA[19158679]	4
GO:0044351	macropinocytosis	Biological Process		1
GO:0042771	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	Biological Process	IMP[14730312]	4
GO:0042104	positive regulation of activated T cell proliferation	Biological Process		6
GO:0043065	positive regulation of apoptotic process	Biological Process	IDA[12646168]	34
GO:0042803	protein homodimerization activity	Molecular Function	IDA[15030775]	113
GO:0032760	positive regulation of tumor necrosis factor production	Biological Process		9
GO:0032755	positive regulation of interleukin-6 production	Biological Process		5
GO:0035872	nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway	Biological Process		8
GO:0033209	tumor necrosis factor-mediated signaling pathway	Biological Process	IDA[12656673]	6
GO:0032611	interleukin-1 beta production	Biological Process		2
GO:0032314	regulation of Rac GTPase activity	Biological Process		4
GO:0032729	positive regulation of interferon-gamma production	Biological Process		9
GO:0032688	negative regulation of interferon-beta production	Biological Process	IMP[19158675]	1
GO:0030838	positive regulation of actin filament polymerization	Biological Process		9
GO:0031647	regulation of protein stability	Biological Process		4
GO:0032088	negative regulation of NF-kappaB transcription factor activity	Biological Process	IMP[16585594]	10
GO:0032090	Pyrin domain binding	Molecular Function	IPI[15030775]	1
GO:0007165	signal transduction	Biological Process	NAS[12019269]	171
GO:0008385	IkappaB kinase complex	Cellular Component	IDA[12486103]; TAS[12656673]	2
GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	Molecular Function	NAS[12019269]	7
GO:0010803	regulation of tumor necrosis factor-mediated signaling pathway	Biological Process	IMP[14730312]	1
GO:0006508	proteolysis	Biological Process		102
GO:0006917	induction of apoptosis	Biological Process	TAS[10567338]	31
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	Biological Process	NAS[12019269]	11
GO:0006954	inflammatory response	Biological Process		51
GO:0005737	cytoplasm	Cellular Component	IDA[15030775]; NAS[12019269]	690
GO:0005739	mitochondrion	Cellular Component	IDA[14730312]	183
GO:0005783	endoplasmic reticulum	Cellular Component		100
GO:0005829	cytosol	Cellular Component		447
GO:2001242	regulation of intrinsic apoptotic signaling pathway	Biological Process	IDA[14730312]	1
GO:2001238	positive regulation of extrinsic apoptotic signaling pathway	Biological Process	IDA[16964285]	2
GO:2001181	positive regulation of interleukin-10 secretion	Biological Process	IMP[16982856]	1
GO:2001056	positive regulation of cysteine-type endopeptidase activity	Biological Process	IDA[19158676]	1
GO:2000778	positive regulation of interleukin-6 secretion	Biological Process	IMP[16982856]	2
GO:2000484	positive regulation of interleukin-8 secretion	Biological Process	IMP[16982856]	2
GO:2000406	positive regulation of T cell migration	Biological Process		1
GO:0097169	AIM2 inflammasome complex	Cellular Component	IDA[19158676]	2
GO:0090200	positive regulation of release of cytochrome c from mitochondria	Biological Process	IDA[14730312]	5
GO:0090197	positive regulation of chemokine secretion	Biological Process		2
GO:0072559	NLRP3 inflammasome complex	Cellular Component	IDA[15030775]	2
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	Biological Process	IMP[14730312]	3
GO:0072558	NLRP1 inflammasome complex	Cellular Component	IDA[12191486]	3
GO:0071356	cellular response to tumor necrosis factor	Biological Process	IDA[12486103]	9
GO:0071901	negative regulation of protein serine/threonine kinase activity	Biological Process	IDA[12486103]	3
GO:0071222	cellular response to lipopolysaccharide	Biological Process	IDA[12486103]	13
GO:0071347	cellular response to interleukin-1	Biological Process	IDA[12486103]	3
GO:0051607	defense response to virus	Biological Process		15
GO:0070374	positive regulation of ERK1 and ERK2 cascade	Biological Process		22
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	Biological Process	IDA[19494289]	11
GO:0051092	positive regulation of NF-kappaB transcription factor activity	Biological Process	IDA[12656673]	27
GO:0050829	defense response to Gram-negative bacterium	Biological Process		7
GO:0050870	positive regulation of T cell activation	Biological Process		3
GO:0050718	positive regulation of interleukin-1 beta secretion	Biological Process	IDA[15030775]	5
GO:0050766	positive regulation of phagocytosis	Biological Process		3
GO:0045087	innate immune response	Biological Process		54
GO:0046330	positive regulation of JNK cascade	Biological Process		12
GO:0001773	myeloid dendritic cell activation	Biological Process		1
GO:0002218	activation of innate immune response	Biological Process		3
GO:0002230	positive regulation of defense response to virus by host	Biological Process		3
GO:0002277	myeloid dendritic cell activation involved in immune response	Biological Process		1
GO:0002588	positive regulation of antigen processing and presentation of peptide antigen via MHC class II	Biological Process		1
GO:0002821	positive regulation of adaptive immune response	Biological Process		1
GO:0004197	cysteine-type endopeptidase activity	Molecular Function		17
GO:0005515	protein binding	Molecular Function		910
GO:0005576	extracellular region	Cellular Component		240
GO:0005634	nucleus	Cellular Component		770

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04621	NOD-like receptor signaling pathway	16	Specific families of pattern recognition receptors are respo...... Specific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains more than 20 members in mammals and plays a pivotal role in the recognition of intracellular ligands. NOD1 and NOD2, two prototypic NLRs, sense the cytosolic presence of the bacterial peptidoglycan fragments that escaped from endosomal compartments, driving the activation of NF-{kappa}B and MAPK, cytokine production and apoptosis. On the other hand, a different set of NLRs induces caspase-1 activation through the assembly of multiprotein complexes called inflammasomes. These NLRs include NALP1, NALP3 and Ipaf. The inflammasomes are critical for generating mature proinflammatory cytokines in concert with Toll-like receptor signaling pathway. 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...

Genes shared at least 5 GO terms with PYCARD (count: 87)

Gene Symbol	Pathway Count	Pathway List
CASP1	16	nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; interleukin-1 beta production; signal transduction; cysteine-type endopeptidase activator activity involved in apoptotic process; proteolysis; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; cytosol; AIM2 inflammasome complex; NLRP3 inflammasome complex; NLRP1 inflammasome complex; positive regulation of interleukin-1 beta secretion; innate immune response; cysteine-type endopeptidase activity; protein binding; extracellular region;
TNFAIP3	11	negative regulation of I-kappaB kinase/NF-kappaB cascade; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; negative regulation of NF-kappaB transcription factor activity; proteolysis; inflammatory response; cytoplasm; cytosol; cellular response to lipopolysaccharide; innate immune response; protein binding; nucleus;
TLR4	11	positive regulation of tumor necrosis factor production; positive regulation of interleukin-6 production; positive regulation of interferon-gamma production; cytoplasm; cellular response to lipopolysaccharide; positive regulation of ERK1 and ERK2 cascade; positive regulation of NF-kappaB transcription factor activity; defense response to Gram-negative bacterium; innate immune response; positive regulation of JNK cascade; protein binding;
RELA	11	inflammatory response; cytoplasm; cytosol; cellular response to tumor necrosis factor; cellular response to lipopolysaccharide; cellular response to interleukin-1; defense response to virus; positive regulation of NF-kappaB transcription factor activity; innate immune response; protein binding; nucleus;
PMAIP1	10	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of apoptotic process; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; mitochondrion; cytosol; positive regulation of release of cytochrome c from mitochondria; intrinsic apoptotic signaling pathway by p53 class mediator; protein binding; nucleus;
IL12B	10	positive regulation of activated T cell proliferation; protein homodimerization activity; positive regulation of tumor necrosis factor production; positive regulation of interferon-gamma production; cytoplasm; cellular response to lipopolysaccharide; defense response to virus; defense response to Gram-negative bacterium; positive regulation of defense response to virus by host; protein binding;
PYDC1	10	tumor necrosis factor-mediated signaling pathway; negative regulation of NF-kappaB transcription factor activity; IkappaB kinase complex; proteolysis; cytosol; positive regulation of interleukin-1 beta secretion; innate immune response; cysteine-type endopeptidase activity; protein binding; nucleus;
BAD	9	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of apoptotic process; cysteine-type endopeptidase activator activity involved in apoptotic process; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; mitochondrion; cytosol; positive regulation of release of cytochrome c from mitochondria; protein binding;
MAPK9	9	positive regulation of apoptotic process; cysteine-type endopeptidase activator activity involved in apoptotic process; mitochondrion; cytosol; cellular response to tumor necrosis factor; cellular response to lipopolysaccharide; cellular response to interleukin-1; innate immune response; protein binding;
MALT1	9	proteolysis; cytoplasm; cytosol; positive regulation of NF-kappaB transcription factor activity; positive regulation of T cell activation; innate immune response; cysteine-type endopeptidase activity; protein binding; nucleus;
MAP3K5	8	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of apoptotic process; protein homodimerization activity; cysteine-type endopeptidase activator activity involved in apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process; endoplasmic reticulum; innate immune response; protein binding;
FADD	8	positive regulation of apoptotic process; positive regulation of tumor necrosis factor production; activation of cysteine-type endopeptidase activity involved in apoptotic process; cytosol; positive regulation of extrinsic apoptotic signaling pathway; defense response to virus; innate immune response; protein binding;
BNIP3	8	protein homodimerization activity; induction of apoptosis; cytoplasm; mitochondrion; positive regulation of release of cytochrome c from mitochondria; defense response to virus; protein binding; nucleus;
TIRAP	8	protein homodimerization activity; positive regulation of tumor necrosis factor production; inflammatory response; positive regulation of ERK1 and ERK2 cascade; positive regulation of NF-kappaB transcription factor activity; innate immune response; positive regulation of JNK cascade; protein binding;
TRIM5	8	protein homodimerization activity; cytoplasm; defense response to virus; positive regulation of NF-kappaB transcription factor activity; innate immune response; activation of innate immune response; protein binding; nucleus;
MAVS	8	positive regulation of tumor necrosis factor production; signal transduction; defense response to virus; positive regulation of sequence-specific DNA binding transcription factor activity; innate immune response; activation of innate immune response; positive regulation of defense response to virus by host; protein binding;
IL6	8	positive regulation of interleukin-6 production; inflammatory response; defense response to virus; positive regulation of ERK1 and ERK2 cascade; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of NF-kappaB transcription factor activity; defense response to Gram-negative bacterium; extracellular region;
MAPK1	8	signal transduction; induction of apoptosis; cytoplasm; mitochondrion; cytosol; innate immune response; protein binding; nucleus;
PRKD1	8	signal transduction; inflammatory response; cytoplasm; cytosol; positive regulation of NF-kappaB transcription factor activity; innate immune response; protein binding; nucleus;
DAB2IP	7	negative regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of apoptotic process; protein homodimerization activity; negative regulation of NF-kappaB transcription factor activity; cytoplasm; cellular response to tumor necrosis factor; negative regulation of protein serine/threonine kinase activity;
GSTP1	7	negative regulation of I-kappaB kinase/NF-kappaB cascade; cytoplasm; mitochondrion; cytosol; cellular response to lipopolysaccharide; protein binding; nucleus;
IL18	7	positive regulation of activated T cell proliferation; positive regulation of tumor necrosis factor production; positive regulation of interferon-gamma production; inflammatory response; cytosol; cellular response to tumor necrosis factor; extracellular region;
WWOX	7	positive regulation of apoptotic process; induction of apoptosis; cytoplasm; mitochondrion; cytosol; protein binding; nucleus;
TPD52L1	7	protein homodimerization activity; cysteine-type endopeptidase activator activity involved in apoptotic process; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; cytoplasm; positive regulation of JNK cascade; protein binding;
TXN	7	nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; signal transduction; mitochondrion; cytosol; innate immune response; protein binding; extracellular region;
RPS3	7	negative regulation of NF-kappaB transcription factor activity; induction of apoptosis; activation of cysteine-type endopeptidase activity involved in apoptotic process; cytoplasm; cytosol; protein binding; nucleus;
RIPK3	7	signal transduction; induction of apoptosis; mitochondrion; cytosol; positive regulation of NF-kappaB transcription factor activity; innate immune response; protein binding;
AIFM3	7	cysteine-type endopeptidase activator activity involved in apoptotic process; induction of apoptosis; cytoplasm; mitochondrion; endoplasmic reticulum; cytosol; nucleus;
SNCA	7	activation of cysteine-type endopeptidase activity involved in apoptotic process; cytoplasm; mitochondrion; cytosol; protein binding; extracellular region; nucleus;
MEN1	6	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of apoptotic process; cytoplasm; cytosol; protein binding; nucleus;
CRYAB	6	protein homodimerization activity; cytoplasm; mitochondrion; cytosol; protein binding; nucleus;
DAXX	6	protein homodimerization activity; induction of apoptosis; cytoplasm; cytosol; protein binding; nucleus;
PDE2A	6	protein homodimerization activity; cytoplasm; endoplasmic reticulum; cytosol; protein binding; nucleus;
CCL19	6	positive regulation of tumor necrosis factor production; inflammatory response; positive regulation of ERK1 and ERK2 cascade; positive regulation of interleukin-1 beta secretion; positive regulation of JNK cascade; extracellular region;
NCK1	6	positive regulation of actin filament polymerization; cytoplasm; endoplasmic reticulum; cytosol; protein binding; nucleus;
NCK2	6	positive regulation of actin filament polymerization; signal transduction; cytoplasm; endoplasmic reticulum; cytosol; protein binding;
ARRB1	6	negative regulation of NF-kappaB transcription factor activity; cytoplasm; cytosol; positive regulation of ERK1 and ERK2 cascade; protein binding; nucleus;
ARRB2	6	negative regulation of NF-kappaB transcription factor activity; cytoplasm; cytosol; positive regulation of ERK1 and ERK2 cascade; protein binding; nucleus;
PRKCB	6	signal transduction; cytoplasm; cytosol; positive regulation of NF-kappaB transcription factor activity; protein binding; nucleus;
BLMH	6	proteolysis; cytoplasm; cytosol; cysteine-type endopeptidase activity; protein binding; nucleus;
MIF	6	inflammatory response; cytoplasm; positive regulation of ERK1 and ERK2 cascade; innate immune response; protein binding; extracellular region;
FLT4	6	cytoplasm; positive regulation of ERK1 and ERK2 cascade; positive regulation of JNK cascade; protein binding; extracellular region; nucleus;
HERC5	6	cytoplasm; cytosol; defense response to virus; innate immune response; protein binding; nucleus;
PARK2	6	cytoplasm; mitochondrion; endoplasmic reticulum; cytosol; protein binding; nucleus;
MAPK3	6	mitochondrion; cytosol; positive regulation of ERK1 and ERK2 cascade; innate immune response; protein binding; nucleus;
CTGF	5	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; cytosol; positive regulation of ERK1 and ERK2 cascade; positive regulation of JNK cascade; extracellular region;
TNFSF4	5	positive regulation of activated T cell proliferation; positive regulation of interleukin-6 production; positive regulation of interferon-gamma production; signal transduction; cellular response to lipopolysaccharide;
APBB1	5	positive regulation of apoptotic process; signal transduction; cytoplasm; protein binding; nucleus;
APC	5	positive regulation of apoptotic process; cytoplasm; cytosol; protein binding; nucleus;
BARD1	5	positive regulation of apoptotic process; protein homodimerization activity; cytoplasm; protein binding; nucleus;
BCLAF1	5	positive regulation of apoptotic process; induction of apoptosis; cytoplasm; protein binding; nucleus;
FOSL1	5	positive regulation of apoptotic process; cytosol; positive regulation of sequence-specific DNA binding transcription factor activity; protein binding; nucleus;
NOX4	5	positive regulation of apoptotic process; inflammatory response; mitochondrion; positive regulation of ERK1 and ERK2 cascade; nucleus;
PDIA3	5	positive regulation of apoptotic process; signal transduction; endoplasmic reticulum; cysteine-type endopeptidase activity; protein binding;
CEP57	5	protein homodimerization activity; cytoplasm; cytosol; protein binding; nucleus;
CORO1A	5	protein homodimerization activity; cytoplasm; innate immune response; protein binding; nucleus;
GHR	5	protein homodimerization activity; mitochondrion; protein binding; extracellular region; nucleus;
MTMR2	5	protein homodimerization activity; cytoplasm; cytosol; protein binding; nucleus;
PAFAH1B1	5	protein homodimerization activity; cytoplasm; cytosol; protein binding; nucleus;
SHMT1	5	protein homodimerization activity; cytoplasm; mitochondrion; cytosol; nucleus;
SLC11A1	5	protein homodimerization activity; positive regulation of interferon-gamma production; inflammatory response; defense response to Gram-negative bacterium; positive regulation of phagocytosis;
ISL1	5	positive regulation of tumor necrosis factor production; positive regulation of interleukin-6 production; positive regulation of interferon-gamma production; cytoplasm; nucleus;
UBB	5	nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; cytosol; positive regulation of NF-kappaB transcription factor activity; innate immune response; protein binding;
UBC	5	nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; cytosol; positive regulation of NF-kappaB transcription factor activity; innate immune response; protein binding;
TNFRSF11A	5	tumor necrosis factor-mediated signaling pathway; signal transduction; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of NF-kappaB transcription factor activity; protein binding;
IRF8	5	positive regulation of interferon-gamma production; cytosol; cellular response to lipopolysaccharide; protein binding; nucleus;
AIP	5	signal transduction; cytoplasm; cytosol; protein binding; nucleus;
FGF4	5	signal transduction; cytosol; positive regulation of ERK1 and ERK2 cascade; extracellular region; nucleus;
MAP2K3	5	signal transduction; inflammatory response; cytosol; innate immune response; protein binding;
MAPK7	5	signal transduction; cytosol; innate immune response; protein binding; nucleus;
STAP1	5	signal transduction; cytoplasm; mitochondrion; protein binding; nucleus;
WWP1	5	signal transduction; cytoplasm; cytosol; protein binding; nucleus;
ADAM8	5	proteolysis; inflammatory response; cytoplasm; positive regulation of NF-kappaB transcription factor activity; protein binding;
UBE3A	5	proteolysis; cytoplasm; cytosol; protein binding; nucleus;
C5	5	induction of apoptosis; inflammatory response; positive regulation of chemokine secretion; innate immune response; extracellular region;
EGLN3	5	activation of cysteine-type endopeptidase activity involved in apoptotic process; cytoplasm; cytosol; protein binding; nucleus;
CYBA	5	inflammatory response; mitochondrion; cellular response to tumor necrosis factor; innate immune response; protein binding;
PIK3CG	5	inflammatory response; cytoplasm; cytosol; innate immune response; protein binding;
RPS6KA4	5	inflammatory response; cytoplasm; positive regulation of NF-kappaB transcription factor activity; protein binding; nucleus;
DCPS	5	cytoplasm; mitochondrion; cytosol; protein binding; nucleus;
HABP4	5	cytoplasm; cytosol; protein binding; extracellular region; nucleus;
IRF7	5	cytoplasm; cytosol; innate immune response; protein binding; nucleus;
IRF9	5	cytoplasm; cytosol; defense response to virus; protein binding; nucleus;
KARS	5	cytoplasm; mitochondrion; cytosol; extracellular region; nucleus;
NLRP10	5	cytoplasm; positive regulation of interleukin-6 secretion; positive regulation of interleukin-8 secretion; defense response to Gram-negative bacterium; innate immune response;
TH	5	cytoplasm; mitochondrion; cytosol; protein binding; nucleus;
TRIM32	5	cytoplasm; positive regulation of NF-kappaB transcription factor activity; innate immune response; protein binding; nucleus;

Genes shared at least 2 KEGG pathways with PYCARD (count: 4)

Gene Symbol	Pathway Count	Pathway List
CASP1	2	NOD-like receptor signaling pathway; Cytosolic DNA-sensing pathway;
IL18	2	NOD-like receptor signaling pathway; Cytosolic DNA-sensing pathway;
IL6	2	NOD-like receptor signaling pathway; Cytosolic DNA-sensing pathway;
RELA	2	NOD-like receptor signaling pathway; Cytosolic DNA-sensing pathway;

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Region: chr16:31212807..31214313 View in gBrowse