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	ILK
Approved Name	integrin-linked kinase
Location	11p15.4
Position	chr11:6624961-6632102, +
External Links	HGNC: 6040 Entrez Gene: 3611 Ensembl: ENSG00000166333 UCSC: uc001mef.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: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_29	chr11:5582423-7488751 (NCBI Build 36.1 (hg18))	1859865	11p15.4	Loss	De novo

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 53)

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

GO terms by database search (count: 53)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0034329	cell junction assembly	Biological Process		13
GO:0034446	substrate adhesion-dependent cell spreading	Biological Process	IMP[19118217]	4
GO:0042327	positive regulation of phosphorylation	Biological Process		5
GO:0043025	neuronal cell body	Cellular Component		51
GO:0043034	costamere	Cellular Component		4
GO:0043195	terminal bouton	Cellular Component		11
GO:0043198	dendritic shaft	Cellular Component		11
GO:0043206	extracellular fibril organization	Biological Process		2
GO:0018105	peptidyl-serine phosphorylation	Biological Process		12
GO:0019901	protein kinase binding	Molecular Function	IPI[19118217]	51
GO:0030017	sarcomere	Cellular Component		4
GO:0030027	lamellipodium	Cellular Component		27
GO:0030335	positive regulation of cell migration	Biological Process		29
GO:0030513	positive regulation of BMP signaling pathway	Biological Process		5
GO:0032288	myelin assembly	Biological Process		2
GO:0032956	regulation of actin cytoskeleton organization	Biological Process		6
GO:0048812	neuron projection morphogenesis	Biological Process		7
GO:0048662	negative regulation of smooth muscle cell proliferation	Biological Process		7
GO:0051291	protein heterooligomerization	Biological Process		10
GO:0050775	positive regulation of dendrite morphogenesis	Biological Process		2
GO:0090263	positive regulation of canonical Wnt receptor signaling pathway	Biological Process		9
GO:0051897	positive regulation of protein kinase B signaling cascade	Biological Process		17
GO:0043406	positive regulation of MAP kinase activity	Biological Process		10
GO:0043234	protein complex	Cellular Component		45
GO:0045197	establishment or maintenance of epithelial cell apical/basal polarity	Biological Process		2
GO:0043524	negative regulation of neuron apoptotic process	Biological Process		19
GO:0045669	positive regulation of osteoblast differentiation	Biological Process		6
GO:0045663	positive regulation of myoblast differentiation	Biological Process		1
GO:0045893	positive regulation of transcription, DNA-dependent	Biological Process		80
GO:0045773	positive regulation of axon extension	Biological Process		7
GO:0005515	protein binding	Molecular Function		910
GO:0005524	ATP binding	Molecular Function		228
GO:0004871	signal transducer activity	Molecular Function		49
GO:0005178	integrin binding	Molecular Function		15
GO:0001954	positive regulation of cell-matrix adhesion	Biological Process		3
GO:0004674	protein serine/threonine kinase activity	Molecular Function	IDA[9366252]	61
GO:0001658	branching involved in ureteric bud morphogenesis	Biological Process		8
GO:0017124	SH3 domain binding	Molecular Function		22
GO:0014912	negative regulation of smooth muscle cell migration	Biological Process		2
GO:0010667	negative regulation of cardiac muscle cell apoptotic process	Biological Process		2
GO:0008284	positive regulation of cell proliferation	Biological Process		69
GO:0008283	cell proliferation	Biological Process	NAS[10871859]	60
GO:0007569	cell aging	Biological Process		4
GO:0007229	integrin-mediated signaling pathway	Biological Process	IDA[9366252]	10
GO:0007160	cell-matrix adhesion	Biological Process		13
GO:0007050	cell cycle arrest	Biological Process		25
GO:0006469	negative regulation of protein kinase activity	Biological Process		13
GO:0006468	protein phosphorylation	Biological Process	IDA[10871859]	53
GO:0005925	focal adhesion	Cellular Component		26
GO:0005911	cell-cell junction	Cellular Component		20
GO:0005886	plasma membrane	Cellular Component		772
GO:0005829	cytosol	Cellular Component		447
GO:0005737	cytoplasm	Cellular Component		690

Gene related KEGG pathways (count: 4)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05100	Bacterial invasion of epithelial cells	19	Many pathogenic bacteria can invade phagocytic and non-phago...... Many pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-phagocytic host cells (e.g. epithelial cells) using two mechanisms referred to as zipper model and trigger model. Listeria, Staphylococcus, Streptococcus, and Yersinia are examples of bacteria that enter using the zipper model. These bacteria express proteins on their surfaces that interact with cellular receptors, initiating signalling cascades that result in close apposition of the cellular membrane around the entering bacteria. Shigella and Salmonella are the examples of bacteria entering cells using the trigger model. These bacteria use type III secretion systems to inject protein effectors that interact with the actin cytoskeleton. More...
hsa04510	Focal adhesion	40	Cell-matrix adhesions play essential roles in important biol...... Cell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the cell-extracellular matrix contact points, specialized structures are formed and termed focal adhesions, where bundles of actin filaments are anchored to transmembrane receptors of the integrin family through a multi-molecular complex of junctional plaque proteins. Some of the constituents of focal adhesions participate in the structural link between membrane receptors and the actin cytoskeleton, while others are signalling molecules, including different protein kinases and phosphatases, their substrates, and various adapter proteins. Integrin signaling is dependent upon the non-receptor tyrosine kinase activities of the FAK and src proteins as well as the adaptor protein functions of FAK, src and Shc to initiate downstream signaling events. These signalling events culminate in reorganization of the actin cytoskeleton; a prerequisite for changes in cell shape and motility, and gene expression. Similar morphological alterations and modulation of gene expression are initiated by the binding of growth factors to their respective receptors, emphasizing the considerable crosstalk between adhesion- and growth factor-mediated signalling. More...
hsa05213	Endometrial cancer	12	Endometrial cancer (EC) is the most common gynaecological ma...... Endometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endometrial carcinoma are distinguished with respect to biology and clinical course. Type-I carcinoma is related to hyperestrogenism by association with endometrial hyperplasia, frequent expression of estrogen and progesterone receptors and younger age, whereas type-II carcinoma is unrelated to estrogen, associated with atrophic endometrium, frequent lack of estrogen and progesterone receptors and older age. The morphologic differences in these cancers are mirrored in their molecular genetic profile with type I showing defects in DNA-mismatch repair and mutations in PTEN, K-ras, and beta-catenin, and type II showing aneuploidy, p53 mutations, and her2/neu amplification. More...
hsa03320	PPAR signaling pathway	12	Peroxisome proliferator-activated receptors (PPARs) are nucl...... Peroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) showing different expression patterns in vertebrates. Each of them is encoded in a separate gene and binds fatty acids and eicosanoids. PPARalpha plays a role in the clearance of circulating or cellular lipids via the regulation of gene expression involved in lipid metabolism in liver and skeletal muscle. PPARbeta/delta is involved in lipid oxidation and cell proliferation. PPARgamma promotes adipocyte differentiation to enhance blood glucose uptake. More...

Genes shared at least 5 GO terms with ILK (count: 101)

Gene Symbol	Pathway Count	Pathway List
GSK3B	13	neuronal cell body; dendritic shaft; peptidyl-serine phosphorylation; protein kinase binding; protein binding; ATP binding; integrin binding; positive regulation of cell-matrix adhesion; protein serine/threonine kinase activity; protein phosphorylation; plasma membrane; cytosol; cytoplasm;
PAK1	12	protein kinase binding; neuron projection morphogenesis; protein complex; protein binding; ATP binding; protein serine/threonine kinase activity; protein phosphorylation; focal adhesion; cell-cell junction; plasma membrane; cytosol; cytoplasm;
MAPK1	11	peptidyl-serine phosphorylation; positive regulation of cell migration; protein complex; positive regulation of transcription, DNA-dependent; protein binding; ATP binding; protein serine/threonine kinase activity; positive regulation of cell proliferation; focal adhesion; cytosol; cytoplasm;
PRKD1	11	peptidyl-serine phosphorylation; positive regulation of osteoblast differentiation; protein binding; ATP binding; protein serine/threonine kinase activity; cell proliferation; integrin-mediated signaling pathway; cell-cell junction; plasma membrane; cytosol; cytoplasm;
BCAR1	11	protein kinase binding; positive regulation of cell migration; protein binding; signal transducer activity; SH3 domain binding; cell proliferation; integrin-mediated signaling pathway; focal adhesion; plasma membrane; cytosol; cytoplasm;
TGFBR1	10	peptidyl-serine phosphorylation; positive regulation of protein kinase B signaling cascade; positive regulation of transcription, DNA-dependent; protein binding; ATP binding; protein serine/threonine kinase activity; positive regulation of cell proliferation; cell cycle arrest; protein phosphorylation; plasma membrane;
SYK	9	protein kinase binding; protein binding; ATP binding; integrin binding; cell proliferation; integrin-mediated signaling pathway; protein phosphorylation; plasma membrane; cytosol;
ADAM17	9	positive regulation of cell migration; protein binding; integrin binding; SH3 domain binding; positive regulation of cell proliferation; focal adhesion; cell-cell junction; plasma membrane; cytoplasm;
NEK6	8	peptidyl-serine phosphorylation; protein kinase binding; protein binding; ATP binding; signal transducer activity; protein serine/threonine kinase activity; protein phosphorylation; cytoplasm;
PLK1	8	peptidyl-serine phosphorylation; protein kinase binding; protein binding; ATP binding; protein serine/threonine kinase activity; cell proliferation; protein phosphorylation; cytosol;
APC	8	protein kinase binding; lamellipodium; positive regulation of cell migration; protein binding; cell cycle arrest; plasma membrane; cytosol; cytoplasm;
TSC1	8	lamellipodium; protein heterooligomerization; protein complex; protein binding; cell-matrix adhesion; cell cycle arrest; cytosol; cytoplasm;
PIK3CG	8	positive regulation of protein kinase B signaling cascade; positive regulation of MAP kinase activity; protein binding; ATP binding; protein serine/threonine kinase activity; plasma membrane; cytosol; cytoplasm;
CTNND1	7	cell junction assembly; lamellipodium; protein binding; cell-cell junction; plasma membrane; cytosol; cytoplasm;
SNCA	7	terminal bouton; extracellular fibril organization; negative regulation of neuron apoptotic process; protein binding; plasma membrane; cytosol; cytoplasm;
ADRA2A	7	protein kinase binding; positive regulation of cell migration; positive regulation of MAP kinase activity; protein binding; positive regulation of cell proliferation; plasma membrane; cytoplasm;
ROCK2	7	regulation of actin cytoskeleton organization; protein binding; ATP binding; protein serine/threonine kinase activity; protein phosphorylation; plasma membrane; cytosol;
PRKAA1	7	protein heterooligomerization; protein binding; ATP binding; positive regulation of cell proliferation; cell cycle arrest; protein phosphorylation; cytosol;
PRKCB	7	protein binding; ATP binding; protein serine/threonine kinase activity; protein phosphorylation; plasma membrane; cytosol; cytoplasm;
FLNC	6	cell junction assembly; costamere; protein binding; plasma membrane; cytosol; cytoplasm;
FZD4	6	substrate adhesion-dependent cell spreading; positive regulation of transcription, DNA-dependent; protein binding; cell-cell junction; plasma membrane; cytoplasm;
MIF	6	positive regulation of phosphorylation; positive regulation of MAP kinase activity; protein binding; cell proliferation; cell aging; cytoplasm;
ADORA2A	6	neuronal cell body; neuron projection morphogenesis; negative regulation of neuron apoptotic process; protein binding; negative regulation of protein kinase activity; plasma membrane;
CAMK2D	6	neuronal cell body; peptidyl-serine phosphorylation; ATP binding; protein phosphorylation; plasma membrane; cytosol;
DIXDC1	6	neuronal cell body; positive regulation of canonical Wnt receptor signaling pathway; protein binding; signal transducer activity; focal adhesion; cytosol;
NTRK2	6	neuronal cell body; terminal bouton; negative regulation of neuron apoptotic process; ATP binding; positive regulation of cell proliferation; cytosol;
ADRBK1	6	peptidyl-serine phosphorylation; protein binding; ATP binding; plasma membrane; cytosol; cytoplasm;
SMG1	6	peptidyl-serine phosphorylation; protein binding; ATP binding; protein serine/threonine kinase activity; cytosol; cytoplasm;
LATS1	6	protein kinase binding; protein binding; ATP binding; protein serine/threonine kinase activity; protein phosphorylation; cytosol;
MAP2K3	6	protein kinase binding; positive regulation of transcription, DNA-dependent; protein binding; ATP binding; protein serine/threonine kinase activity; cytosol;
MAPT	6	protein kinase binding; positive regulation of axon extension; protein binding; SH3 domain binding; plasma membrane; cytosol;
RELA	6	protein kinase binding; positive regulation of transcription, DNA-dependent; protein binding; positive regulation of cell proliferation; cytosol; cytoplasm;
THY1	6	protein kinase binding; protein binding; integrin binding; negative regulation of protein kinase activity; plasma membrane; cytosol;
APBB1	6	lamellipodium; positive regulation of transcription, DNA-dependent; protein binding; cell cycle arrest; plasma membrane; cytoplasm;
CORO1A	6	lamellipodium; positive regulation of cell migration; protein complex; protein binding; plasma membrane; cytoplasm;
INPPL1	6	lamellipodium; protein binding; SH3 domain binding; plasma membrane; cytosol; cytoplasm;
BAIAP2	6	regulation of actin cytoskeleton organization; protein binding; SH3 domain binding; plasma membrane; cytosol; cytoplasm;
RIPK3	6	protein heterooligomerization; protein binding; ATP binding; protein serine/threonine kinase activity; plasma membrane; cytosol;
CSNK1E	6	positive regulation of canonical Wnt receptor signaling pathway; protein binding; ATP binding; protein serine/threonine kinase activity; protein phosphorylation; cytosol;
YAP1	6	positive regulation of canonical Wnt receptor signaling pathway; protein binding; positive regulation of cell proliferation; cell proliferation; cytosol; cytoplasm;
ERBB2	6	positive regulation of MAP kinase activity; protein binding; ATP binding; cell proliferation; protein phosphorylation; plasma membrane;
MALT1	6	protein complex; protein binding; signal transducer activity; plasma membrane; cytosol; cytoplasm;
MEN1	6	protein complex; positive regulation of osteoblast differentiation; protein binding; cell cycle arrest; cytosol; cytoplasm;
MARK2	6	establishment or maintenance of epithelial cell apical/basal polarity; protein binding; ATP binding; protein serine/threonine kinase activity; protein phosphorylation; plasma membrane;
BMPR1B	6	positive regulation of osteoblast differentiation; protein binding; ATP binding; protein serine/threonine kinase activity; protein phosphorylation; plasma membrane;
CBL	6	protein binding; signal transducer activity; SH3 domain binding; plasma membrane; cytosol; cytoplasm;
MAP3K11	6	protein binding; ATP binding; protein serine/threonine kinase activity; cell proliferation; protein phosphorylation; cytoplasm;
PRKG1	6	protein binding; ATP binding; protein phosphorylation; plasma membrane; cytosol; cytoplasm;
FES	6	ATP binding; cell proliferation; protein phosphorylation; focal adhesion; cytosol; cytoplasm;
CTGF	6	integrin binding; positive regulation of cell proliferation; integrin-mediated signaling pathway; cell-matrix adhesion; plasma membrane; cytosol;
CDH13	5	cell junction assembly; positive regulation of cell migration; positive regulation of cell-matrix adhesion; plasma membrane; cytoplasm;
GRB10	5	positive regulation of phosphorylation; protein binding; plasma membrane; cytosol; cytoplasm;
CACNA1C	5	neuronal cell body; dendritic shaft; protein binding; plasma membrane; cytoplasm;
DRD4	5	neuronal cell body; terminal bouton; protein binding; SH3 domain binding; plasma membrane;
PAFAH1B1	5	neuronal cell body; positive regulation of axon extension; protein binding; cytosol; cytoplasm;
STRN3	5	neuronal cell body; protein complex; protein binding; plasma membrane; cytoplasm;
TRPC1	5	costamere; sarcomere; protein complex; protein binding; plasma membrane;
HTR2A	5	dendritic shaft; positive regulation of MAP kinase activity; positive regulation of cell proliferation; plasma membrane; cytosol;
ATM	5	peptidyl-serine phosphorylation; protein binding; ATP binding; protein serine/threonine kinase activity; cell cycle arrest;
AKAP7	5	protein kinase binding; protein complex; protein binding; plasma membrane; cytosol;
CDK5RAP2	5	protein kinase binding; positive regulation of transcription, DNA-dependent; protein binding; cytosol; cytoplasm;
PARK2	5	protein kinase binding; negative regulation of neuron apoptotic process; protein binding; cytosol; cytoplasm;
PRKAG2	5	protein kinase binding; ATP binding; cell cycle arrest; negative regulation of protein kinase activity; cytosol;
PTPRJ	5	protein kinase binding; positive regulation of protein kinase B signaling cascade; protein binding; cell-cell junction; plasma membrane;
RPTOR	5	protein kinase binding; protein binding; cell cycle arrest; cytosol; cytoplasm;
SQSTM1	5	protein kinase binding; protein heterooligomerization; protein binding; protein serine/threonine kinase activity; cytosol;
NF2	5	lamellipodium; protein binding; negative regulation of protein kinase activity; plasma membrane; cytoplasm;
RDX	5	lamellipodium; protein binding; focal adhesion; plasma membrane; cytoplasm;
DAB2	5	positive regulation of cell migration; positive regulation of transcription, DNA-dependent; protein binding; integrin binding; cell proliferation;
IKBKAP	5	positive regulation of cell migration; protein binding; signal transducer activity; protein phosphorylation; cytoplasm;
PIK3R1	5	positive regulation of cell migration; protein binding; protein phosphorylation; plasma membrane; cytosol;
ROR2	5	positive regulation of cell migration; positive regulation of canonical Wnt receptor signaling pathway; positive regulation of transcription, DNA-dependent; protein binding; ATP binding;
VEGFA	5	positive regulation of cell migration; positive regulation of MAP kinase activity; protein binding; positive regulation of cell proliferation; cytoplasm;
WNT11	5	positive regulation of cell migration; positive regulation of transcription, DNA-dependent; protein phosphorylation; plasma membrane; cytoplasm;
GJA1	5	neuron projection morphogenesis; protein binding; signal transducer activity; SH3 domain binding; plasma membrane;
MAGI2	5	protein heterooligomerization; protein binding; signal transducer activity; plasma membrane; cytoplasm;
STXBP3	5	protein heterooligomerization; protein binding; plasma membrane; cytosol; cytoplasm;
ADAM8	5	positive regulation of protein kinase B signaling cascade; negative regulation of neuron apoptotic process; protein binding; plasma membrane; cytoplasm;
ARRB2	5	positive regulation of protein kinase B signaling cascade; protein binding; plasma membrane; cytosol; cytoplasm;
IL6	5	positive regulation of protein kinase B signaling cascade; positive regulation of osteoblast differentiation; positive regulation of transcription, DNA-dependent; positive regulation of cell proliferation; negative regulation of protein kinase activity;
PDCD10	5	positive regulation of MAP kinase activity; protein binding; positive regulation of cell proliferation; plasma membrane; cytosol;
ID2	5	protein complex; positive regulation of transcription, DNA-dependent; protein binding; cytosol; cytoplasm;
IRF7	5	positive regulation of transcription, DNA-dependent; protein binding; protein phosphorylation; cytosol; cytoplasm;
AIP	5	protein binding; signal transducer activity; plasma membrane; cytosol; cytoplasm;
CDC42BPG	5	protein binding; ATP binding; protein serine/threonine kinase activity; protein phosphorylation; cytoplasm;
CUL5	5	protein binding; cell proliferation; cell cycle arrest; plasma membrane; cytosol;
FLT4	5	protein binding; ATP binding; positive regulation of cell proliferation; plasma membrane; cytoplasm;
FRK	5	protein binding; ATP binding; protein phosphorylation; plasma membrane; cytoplasm;
GAB2	5	protein binding; positive regulation of cell proliferation; plasma membrane; cytosol; cytoplasm;
GAK	5	protein binding; ATP binding; protein serine/threonine kinase activity; focal adhesion; cytoplasm;
GOLPH3	5	protein binding; cell proliferation; plasma membrane; cytosol; cytoplasm;
ITGA1	5	protein binding; integrin binding; integrin-mediated signaling pathway; cell-matrix adhesion; plasma membrane;
LATS2	5	protein binding; ATP binding; protein serine/threonine kinase activity; protein phosphorylation; cytosol;
MAPK3	5	protein binding; ATP binding; protein phosphorylation; focal adhesion; cytosol;
PLCE1	5	protein binding; cell proliferation; plasma membrane; cytosol; cytoplasm;
RPS6KA4	5	protein binding; ATP binding; protein serine/threonine kinase activity; protein phosphorylation; cytoplasm;
SIK2	5	protein binding; ATP binding; protein serine/threonine kinase activity; protein phosphorylation; cytoplasm;
SIK3	5	protein binding; ATP binding; protein serine/threonine kinase activity; protein phosphorylation; cytoplasm;
STK36	5	protein binding; ATP binding; protein serine/threonine kinase activity; protein phosphorylation; cytoplasm;
TSSK2	5	protein binding; ATP binding; protein serine/threonine kinase activity; protein phosphorylation; cytoplasm;
WNK2	5	ATP binding; protein serine/threonine kinase activity; protein phosphorylation; plasma membrane; cytoplasm;

Genes shared at least 2 KEGG pathways with ILK (count: 15)

Gene Symbol	Pathway Count	Pathway List
PIK3CG	3	Bacterial invasion of epithelial cells; Focal adhesion; Endometrial cancer;
PIK3R1	3	Bacterial invasion of epithelial cells; Focal adhesion; Endometrial cancer;
BCAR1	2	Bacterial invasion of epithelial cells; Focal adhesion;
CAV3	2	Bacterial invasion of epithelial cells; Focal adhesion;
CRKL	2	Bacterial invasion of epithelial cells; Focal adhesion;
CTNNA2	2	Bacterial invasion of epithelial cells; Endometrial cancer;
CTNNA3	2	Bacterial invasion of epithelial cells; Endometrial cancer;
FN1	2	Bacterial invasion of epithelial cells; Focal adhesion;
SHC3	2	Bacterial invasion of epithelial cells; Focal adhesion;
BAD	2	Focal adhesion; Endometrial cancer;
CCND1	2	Focal adhesion; Endometrial cancer;
ERBB2	2	Focal adhesion; Endometrial cancer;
GSK3B	2	Focal adhesion; Endometrial cancer;
MAPK1	2	Focal adhesion; Endometrial cancer;
MAPK3	2	Focal adhesion; Endometrial cancer;

View in gBrowse

Region: chr11:6624961..6632102 View in gBrowse