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	chr16:31212806-31214771, -1
External Links	HGNC: 16608 Entrez Gene: 29108 Ensembl: ENSG00000103490 UCSC: uc010cak.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: 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:0033209	tumor necrosis factor-mediated signaling pathway	biological process	IDA[12656673]	8
GO:0032729	positive regulation of interferon-gamma production	biological process	ISS	9
GO:0090197	positive regulation of chemokine secretion	biological process	IMP	2
GO:2001181	positive regulation of interleukin-10 secretion	biological process	IMP[16982856]	1
GO:0032090	Pyrin domain binding	molecular function	IPI[15030775]	1
GO:0070374	positive regulation of ERK1 and ERK2 cascade	biological process	IMP	23
GO:0005737	cytoplasm	cellular component	IDA[15030775]; NAS[12019269]	781
GO:0006508	proteolysis	biological process	IEA	123
GO:0042104	positive regulation of activated T cell proliferation	biological process	ISS	6
GO:0032755	positive regulation of interleukin-6 production	biological process	ISS	6
GO:0071356	cellular response to tumor necrosis factor	biological process	IDA[12486103]	9
GO:0071347	cellular response to interleukin-1	biological process	IDA[12486103]	3
GO:2001238	positive regulation of extrinsic apoptotic signaling pathway	biological process	IDA[16964285]	3
GO:0030838	positive regulation of actin filament polymerization	biological process	ISS	10
GO:0031647	regulation of protein stability	biological process	ISS	4
GO:0005515	protein binding	molecular function	IPI	1015
GO:0007165	signal transduction	biological process	NAS[12019269]	189
GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	molecular function	NAS[12019269]	7
GO:0050870	positive regulation of T cell activation	biological process	IMP	3
GO:0010803	regulation of tumor necrosis factor-mediated signaling pathway	biological process	IMP[14730312]	1
GO:0005576	extracellular region	cellular component	IEA	267
GO:0032314	regulation of Rac GTPase activity	biological process	IEA	5
GO:0002588	positive regulation of antigen processing and presentation of peptide antigen via MHC class II	biological process	ISS	1
GO:0002821	positive regulation of adaptive immune response	biological process	IMP	1
GO:0008385	IkappaB kinase complex	cellular component	IDA[12486103]; TAS[12656673]	3
GO:0035872	nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway	biological process	TAS	9
GO:0006954	inflammatory response	biological process	IEA	54
GO:0044351	macropinocytosis	biological process	ISS	1
GO:0032088	negative regulation of NF-kappaB transcription factor activity	biological process	IMP[16585594]	16
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	biological process	IMP[14730312]	4
GO:0005783	endoplasmic reticulum	cellular component	IEA	111
GO:0005634	nucleus	cellular component	ISS	877
GO:0001773	myeloid dendritic cell activation	biological process	IMP	1
GO:0043065	positive regulation of apoptotic process	biological process	IDA[12646168]	38
GO:0002218	activation of innate immune response	biological process	IDA	3
GO:0050766	positive regulation of phagocytosis	biological process	ISS	3
GO:0045087	innate immune response	biological process	TAS	57
GO:0042771	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	biological process	IMP[14730312]	5
GO:0005829	cytosol	cellular component	TAS	485
GO:0005739	mitochondrion	cellular component	IDA[14730312]	221
GO:2001056	positive regulation of cysteine-type endopeptidase activity	biological process	IDA[19158676]	2
GO:2000778	positive regulation of interleukin-6 secretion	biological process	IMP[16982856]	2
GO:0050718	positive regulation of interleukin-1 beta secretion	biological process	IDA[15030775]	5
GO:2000484	positive regulation of interleukin-8 secretion	biological process	IMP[16982856]	2
GO:0051092	positive regulation of NF-kappaB transcription factor activity	biological process	IDA[12656673]	27
GO:0044444	cytoplasmic part	cellular component	IDA[19158679]	4
GO:0032688	negative regulation of interferon-beta production	biological process	IMP[19158675]	1
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	biological process	NAS[12019269]	15
GO:0090200	positive regulation of release of cytochrome c from mitochondria	biological process	IDA[14730312]	6
GO:0032760	positive regulation of tumor necrosis factor production	biological process	IMP	10
GO:0097169	AIM2 inflammasome complex	cellular component	IDA[19158676]	2
GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB cascade	biological process	IDA[12486103]	7
GO:0050829	defense response to Gram-negative bacterium	biological process	IMP	7
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	biological process	IDA[19494289]	12
GO:0072559	NLRP3 inflammasome complex	cellular component	IDA[15030775]	2
GO:0071222	cellular response to lipopolysaccharide	biological process	IDA[12486103]	15
GO:0032611	interleukin-1 beta production	biological process	IEA	2
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	biological process	IDA[15030775]	7
GO:0006917	induction of apoptosis	biological process	TAS[10567338]	35
GO:2001242	regulation of intrinsic apoptotic signaling pathway	biological process	IDA[14730312]	1
GO:0046330	positive regulation of JNK cascade	biological process	IMP	15
GO:0004197	cysteine-type endopeptidase activity	molecular function	IEA	19
GO:0042803	protein homodimerization activity	molecular function	IDA[15030775]	128
GO:0002230	positive regulation of defense response to virus by host	biological process	IEA	3
GO:0072558	NLRP1 inflammasome complex	cellular component	IDA[12191486]	3
GO:0071901	negative regulation of protein serine/threonine kinase activity	biological process	IDA[12486103]	3
GO:0002277	myeloid dendritic cell activation involved in immune response	biological process	ISS	1
GO:0051607	defense response to virus	biological process	IDA	16
GO:2000406	positive regulation of T cell migration	biological process	ISS	1

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with PYCARD (count: 99)

Gene Symbol	Pathway Count	Pathway List
CASP1	16	proteolysis; protein binding; signal transduction; cysteine-type endopeptidase activator activity involved in apoptotic process; extracellular region; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; innate immune response; cytosol; positive regulation of interleukin-1 beta secretion; activation of cysteine-type endopeptidase activity involved in apoptotic process; AIM2 inflammasome complex; NLRP3 inflammasome complex; interleukin-1 beta production; induction of apoptosis; cysteine-type endopeptidase activity; NLRP1 inflammasome complex;
TLR4	11	positive regulation of interferon-gamma production; positive regulation of ERK1 and ERK2 cascade; cytoplasm; positive regulation of interleukin-6 production; protein binding; innate immune response; positive regulation of NF-kappaB transcription factor activity; positive regulation of tumor necrosis factor production; defense response to Gram-negative bacterium; cellular response to lipopolysaccharide; positive regulation of JNK cascade;
RELA	11	cytoplasm; cellular response to tumor necrosis factor; cellular response to interleukin-1; protein binding; inflammatory response; nucleus; innate immune response; cytosol; positive regulation of NF-kappaB transcription factor activity; cellular response to lipopolysaccharide; defense response to virus;
TNFAIP3	11	cytoplasm; proteolysis; protein binding; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; inflammatory response; negative regulation of NF-kappaB transcription factor activity; nucleus; innate immune response; cytosol; negative regulation of I-kappaB kinase/NF-kappaB cascade; cellular response to lipopolysaccharide;
PYDC1	10	tumor necrosis factor-mediated signaling pathway; proteolysis; protein binding; IkappaB kinase complex; negative regulation of NF-kappaB transcription factor activity; nucleus; innate immune response; cytosol; positive regulation of interleukin-1 beta secretion; cysteine-type endopeptidase activity;
IL12B	10	positive regulation of interferon-gamma production; cytoplasm; positive regulation of activated T cell proliferation; protein binding; positive regulation of tumor necrosis factor production; defense response to Gram-negative bacterium; cellular response to lipopolysaccharide; protein homodimerization activity; positive regulation of defense response to virus by host; defense response to virus;
TLR9	10	cytoplasm; positive regulation of interleukin-6 production; extracellular region; inflammatory response; negative regulation of NF-kappaB transcription factor activity; endoplasmic reticulum; innate immune response; positive regulation of NF-kappaB transcription factor activity; positive regulation of tumor necrosis factor production; positive regulation of JNK cascade;
PMAIP1	10	protein binding; intrinsic apoptotic signaling pathway by p53 class mediator; nucleus; positive regulation of apoptotic process; cytosol; mitochondrion; activation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of release of cytochrome c from mitochondria; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis;
MALT1	9	cytoplasm; proteolysis; protein binding; positive regulation of T cell activation; nucleus; innate immune response; cytosol; positive regulation of NF-kappaB transcription factor activity; cysteine-type endopeptidase activity;
DNAJA3	9	cytoplasm; protein binding; IkappaB kinase complex; negative regulation of NF-kappaB transcription factor activity; nucleus; positive regulation of apoptotic process; cytosol; activation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of I-kappaB kinase/NF-kappaB cascade;
MAPK9	9	cellular response to tumor necrosis factor; cellular response to interleukin-1; protein binding; cysteine-type endopeptidase activator activity involved in apoptotic process; positive regulation of apoptotic process; innate immune response; cytosol; mitochondrion; cellular response to lipopolysaccharide;
BAD	9	protein binding; cysteine-type endopeptidase activator activity involved in apoptotic process; positive regulation of apoptotic process; cytosol; mitochondrion; activation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of release of cytochrome c from mitochondria; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis;
IL6	8	positive regulation of ERK1 and ERK2 cascade; positive regulation of interleukin-6 production; extracellular region; inflammatory response; positive regulation of NF-kappaB transcription factor activity; defense response to Gram-negative bacterium; positive regulation of sequence-specific DNA binding transcription factor activity; defense response to virus;
TIRAP	8	positive regulation of ERK1 and ERK2 cascade; protein binding; inflammatory response; innate immune response; positive regulation of NF-kappaB transcription factor activity; positive regulation of tumor necrosis factor production; positive regulation of JNK cascade; protein homodimerization activity;
PRKD1	8	cytoplasm; protein binding; signal transduction; inflammatory response; nucleus; innate immune response; cytosol; positive regulation of NF-kappaB transcription factor activity;
BNIP3	8	cytoplasm; protein binding; nucleus; mitochondrion; positive regulation of release of cytochrome c from mitochondria; induction of apoptosis; protein homodimerization activity; defense response to virus;
TRIM5	8	cytoplasm; protein binding; nucleus; activation of innate immune response; innate immune response; positive regulation of NF-kappaB transcription factor activity; protein homodimerization activity; defense response to virus;
MAPK1	8	cytoplasm; protein binding; signal transduction; nucleus; innate immune response; cytosol; mitochondrion; induction of apoptosis;
FADD	8	positive regulation of extrinsic apoptotic signaling pathway; protein binding; positive regulation of apoptotic process; innate immune response; cytosol; activation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of tumor necrosis factor production; defense response to virus;
MAVS	8	protein binding; signal transduction; activation of innate immune response; innate immune response; positive regulation of tumor necrosis factor production; positive regulation of sequence-specific DNA binding transcription factor activity; positive regulation of defense response to virus by host; defense response to virus;
MAP3K5	8	protein binding; cysteine-type endopeptidase activator activity involved in apoptotic process; endoplasmic reticulum; positive regulation of apoptotic process; innate immune response; activation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; protein homodimerization activity;
IL18	7	positive regulation of interferon-gamma production; positive regulation of activated T cell proliferation; cellular response to tumor necrosis factor; extracellular region; inflammatory response; cytosol; positive regulation of tumor necrosis factor production;
SNCA	7	cytoplasm; protein binding; extracellular region; nucleus; cytosol; mitochondrion; activation of cysteine-type endopeptidase activity involved in apoptotic process;
GSTP1	7	cytoplasm; protein binding; nucleus; cytosol; mitochondrion; negative regulation of I-kappaB kinase/NF-kappaB cascade; cellular response to lipopolysaccharide;
RPS3	7	cytoplasm; protein binding; negative regulation of NF-kappaB transcription factor activity; nucleus; cytosol; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis;
TPD52L1	7	cytoplasm; protein binding; cysteine-type endopeptidase activator activity involved in apoptotic process; activation of cysteine-type endopeptidase activity involved in apoptotic process; induction of apoptosis; positive regulation of JNK cascade; protein homodimerization activity;
DAB2IP	7	cytoplasm; cellular response to tumor necrosis factor; negative regulation of NF-kappaB transcription factor activity; positive regulation of apoptotic process; negative regulation of I-kappaB kinase/NF-kappaB cascade; protein homodimerization activity; negative regulation of protein serine/threonine kinase activity;
WWOX	7	cytoplasm; protein binding; nucleus; positive regulation of apoptotic process; cytosol; mitochondrion; induction of apoptosis;
AIFM3	7	cytoplasm; cysteine-type endopeptidase activator activity involved in apoptotic process; endoplasmic reticulum; nucleus; cytosol; mitochondrion; induction of apoptosis;
TXN	7	protein binding; signal transduction; extracellular region; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; innate immune response; cytosol; mitochondrion;
RIPK3	7	protein binding; signal transduction; innate immune response; cytosol; mitochondrion; positive regulation of NF-kappaB transcription factor activity; induction of apoptosis;
FLT4	6	positive regulation of ERK1 and ERK2 cascade; cytoplasm; protein binding; extracellular region; nucleus; positive regulation of JNK cascade;
MAPK3	6	positive regulation of ERK1 and ERK2 cascade; protein binding; nucleus; innate immune response; cytosol; mitochondrion;
MIF	6	positive regulation of ERK1 and ERK2 cascade; cytoplasm; protein binding; extracellular region; inflammatory response; innate immune response;
ARRB1	6	positive regulation of ERK1 and ERK2 cascade; cytoplasm; protein binding; negative regulation of NF-kappaB transcription factor activity; nucleus; cytosol;
ARRB2	6	positive regulation of ERK1 and ERK2 cascade; cytoplasm; protein binding; negative regulation of NF-kappaB transcription factor activity; nucleus; cytosol;
CCL19	6	positive regulation of ERK1 and ERK2 cascade; extracellular region; inflammatory response; positive regulation of interleukin-1 beta secretion; positive regulation of tumor necrosis factor production; positive regulation of JNK cascade;
STK11	6	cytoplasm; protein binding; intrinsic apoptotic signaling pathway by p53 class mediator; nucleus; cytosol; mitochondrion;
HERC5	6	cytoplasm; protein binding; nucleus; innate immune response; cytosol; defense response to virus;
BLMH	6	cytoplasm; proteolysis; protein binding; nucleus; cytosol; cysteine-type endopeptidase activity;
PARK2	6	cytoplasm; protein binding; endoplasmic reticulum; nucleus; cytosol; mitochondrion;
NCK1	6	cytoplasm; positive regulation of actin filament polymerization; protein binding; endoplasmic reticulum; nucleus; cytosol;
CRYAB	6	cytoplasm; protein binding; nucleus; cytosol; mitochondrion; protein homodimerization activity;
NCK2	6	cytoplasm; positive regulation of actin filament polymerization; protein binding; signal transduction; endoplasmic reticulum; cytosol;
DAXX	6	cytoplasm; protein binding; nucleus; cytosol; induction of apoptosis; protein homodimerization activity;
PDCD6	6	cytoplasm; protein binding; endoplasmic reticulum; nucleus; activation of cysteine-type endopeptidase activity involved in apoptotic process; protein homodimerization activity;
MEN1	6	cytoplasm; protein binding; nucleus; positive regulation of apoptotic process; cytosol; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;
PDE2A	6	cytoplasm; protein binding; endoplasmic reticulum; nucleus; cytosol; protein homodimerization activity;
AXIN1	6	cytoplasm; protein binding; nucleus; cytosol; positive regulation of JNK cascade; protein homodimerization activity;
BCL2L11	6	protein binding; positive regulation of apoptotic process; cytosol; activation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of release of cytochrome c from mitochondria; induction of apoptosis;
MEFV	6	nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; inflammatory response; nucleus; innate immune response; cytosol; positive regulation of cysteine-type endopeptidase activity;
TNFRSF11A	5	tumor necrosis factor-mediated signaling pathway; protein binding; signal transduction; positive regulation of NF-kappaB transcription factor activity; positive regulation of sequence-specific DNA binding transcription factor activity;
SLC11A1	5	positive regulation of interferon-gamma production; inflammatory response; positive regulation of phagocytosis; defense response to Gram-negative bacterium; protein homodimerization activity;
IRF8	5	positive regulation of interferon-gamma production; protein binding; nucleus; cytosol; cellular response to lipopolysaccharide;
TNFSF4	5	positive regulation of interferon-gamma production; positive regulation of activated T cell proliferation; positive regulation of interleukin-6 production; signal transduction; cellular response to lipopolysaccharide;
ISL1	5	positive regulation of interferon-gamma production; cytoplasm; positive regulation of interleukin-6 production; nucleus; positive regulation of tumor necrosis factor production;
C5	5	positive regulation of chemokine secretion; extracellular region; inflammatory response; innate immune response; induction of apoptosis;
CTGF	5	positive regulation of ERK1 and ERK2 cascade; extracellular region; cytosol; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of JNK cascade;
NOX4	5	positive regulation of ERK1 and ERK2 cascade; inflammatory response; nucleus; positive regulation of apoptotic process; mitochondrion;
FGF4	5	positive regulation of ERK1 and ERK2 cascade; signal transduction; extracellular region; nucleus; cytosol;
NLRP10	5	cytoplasm; innate immune response; positive regulation of interleukin-6 secretion; positive regulation of interleukin-8 secretion; defense response to Gram-negative bacterium;
HABP4	5	cytoplasm; protein binding; extracellular region; nucleus; cytosol;
TH	5	cytoplasm; protein binding; nucleus; cytosol; mitochondrion;
BCLAF1	5	cytoplasm; protein binding; nucleus; positive regulation of apoptotic process; induction of apoptosis;
MLST8	5	cytoplasm; positive regulation of actin filament polymerization; protein binding; regulation of Rac GTPase activity; cytosol;
MAD1L1	5	cytoplasm; protein binding; nucleus; cytosol; mitochondrion;
DCPS	5	cytoplasm; protein binding; nucleus; cytosol; mitochondrion;
ADAM8	5	cytoplasm; proteolysis; protein binding; inflammatory response; positive regulation of NF-kappaB transcription factor activity;
IRF7	5	cytoplasm; protein binding; nucleus; innate immune response; cytosol;
EGLN3	5	cytoplasm; protein binding; nucleus; cytosol; activation of cysteine-type endopeptidase activity involved in apoptotic process;
PIK3CG	5	cytoplasm; protein binding; inflammatory response; innate immune response; cytosol;
UBE3A	5	cytoplasm; proteolysis; protein binding; nucleus; cytosol;
IRF9	5	cytoplasm; protein binding; nucleus; cytosol; defense response to virus;
PAFAH1B1	5	cytoplasm; protein binding; nucleus; cytosol; protein homodimerization activity;
CORO1A	5	cytoplasm; protein binding; nucleus; innate immune response; protein homodimerization activity;
SHMT1	5	cytoplasm; nucleus; cytosol; mitochondrion; protein homodimerization activity;
TSC2	5	cytoplasm; protein binding; nucleus; cytosol; protein homodimerization activity;
APC	5	cytoplasm; protein binding; nucleus; positive regulation of apoptotic process; cytosol;
STAP1	5	cytoplasm; protein binding; signal transduction; nucleus; mitochondrion;
KARS	5	cytoplasm; extracellular region; nucleus; cytosol; mitochondrion;
AIP	5	cytoplasm; protein binding; signal transduction; nucleus; cytosol;
CREBBP	5	cytoplasm; protein binding; signal transduction; nucleus; innate immune response;
TRIM32	5	cytoplasm; protein binding; nucleus; innate immune response; positive regulation of NF-kappaB transcription factor activity;
MTMR2	5	cytoplasm; protein binding; nucleus; cytosol; protein homodimerization activity;
BARD1	5	cytoplasm; protein binding; nucleus; positive regulation of apoptotic process; protein homodimerization activity;
CEP57	5	cytoplasm; protein binding; nucleus; cytosol; protein homodimerization activity;
APBB1	5	cytoplasm; protein binding; signal transduction; nucleus; positive regulation of apoptotic process;
RPS6KA4	5	cytoplasm; protein binding; inflammatory response; nucleus; positive regulation of NF-kappaB transcription factor activity;
CYBA	5	cellular response to tumor necrosis factor; protein binding; inflammatory response; innate immune response; mitochondrion;
MAPK7	5	protein binding; signal transduction; nucleus; innate immune response; cytosol;
PDIA3	5	protein binding; signal transduction; endoplasmic reticulum; positive regulation of apoptotic process; cysteine-type endopeptidase activity;
MAP2K5	5	protein binding; signal transduction; negative regulation of NF-kappaB transcription factor activity; nucleus; cytosol;
TLE1	5	protein binding; signal transduction; nucleus; cytosol; negative regulation of I-kappaB kinase/NF-kappaB cascade;
USP7	5	protein binding; negative regulation of NF-kappaB transcription factor activity; nucleus; cytosol; cysteine-type endopeptidase activity;
UBC	5	protein binding; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; innate immune response; cytosol; positive regulation of NF-kappaB transcription factor activity;
FOSL1	5	protein binding; nucleus; positive regulation of apoptotic process; cytosol; positive regulation of sequence-specific DNA binding transcription factor activity;
UBB	5	protein binding; nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway; innate immune response; cytosol; positive regulation of NF-kappaB transcription factor activity;
MAP2K3	5	protein binding; signal transduction; inflammatory response; innate immune response; cytosol;
GHR	5	protein binding; extracellular region; nucleus; mitochondrion; protein homodimerization activity;

Genes shared at least 2 KEGG pathways with PYCARD (count: 0)

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Region: chr16:31212806..31214771 View in gBrowse