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	FLCN
Symbol Alias	BHD, MGC17998, MGC23445
Approved Name	folliculin
Location	17p11.2
Position	chr17:17115526-17140502, -
External Links	HGNC: 27310 Entrez Gene: 201163 Ensembl: ENSG00000154803 UCSC: uc002gra.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
17p11	chr17:16000000-24000000	3 (2/0/1)

Gene related GO terms (count: 37)

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

GO terms by database search (count: 37)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0070373	negative regulation of ERK1 and ERK2 cascade	Biological Process		5
GO:0071775	regulation of cell cycle cytokinesis	Biological Process		1
GO:1900181	negative regulation of protein localization to nucleus	Biological Process		2
GO:1901723	negative regulation of cell proliferation involved in kidney development	Biological Process		1
GO:0044291	cell-cell contact zone	Cellular Component		2
GO:0045785	positive regulation of cell adhesion	Biological Process		7
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process		131
GO:0051898	negative regulation of protein kinase B signaling cascade	Biological Process		6
GO:0032403	protein complex binding	Molecular Function	IDA[17028174]	27
GO:0035024	negative regulation of Rho protein signal transduction	Biological Process		4
GO:0035065	regulation of histone acetylation	Biological Process		1
GO:0043065	positive regulation of apoptotic process	Biological Process		34
GO:0031929	TOR signaling cascade	Biological Process	IMP[17028174]	3
GO:0032006	regulation of TOR signaling cascade	Biological Process		2
GO:0032007	negative regulation of TOR signaling cascade	Biological Process		4
GO:0032008	positive regulation of TOR signaling cascade	Biological Process		5
GO:0030336	negative regulation of cell migration	Biological Process		13
GO:0030308	negative regulation of cell growth	Biological Process		21
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway	Biological Process		6
GO:0030496	midbody	Cellular Component		14
GO:0010629	negative regulation of gene expression	Biological Process		13
GO:0010628	positive regulation of gene expression	Biological Process		28
GO:0030097	hemopoiesis	Biological Process		8
GO:0010823	negative regulation of mitochondrion organization	Biological Process		1
GO:0005886	plasma membrane	Cellular Component		772
GO:0005737	cytoplasm	Cellular Component		690
GO:0007043	cell-cell junction assembly	Biological Process		3
GO:0006950	response to stress	Biological Process	IMP[17028174]	30
GO:0001934	positive regulation of protein phosphorylation	Biological Process		22
GO:0001932	regulation of protein phosphorylation	Biological Process	IDA[18663353]	4
GO:0005634	nucleus	Cellular Component	IDA[17028174]	770
GO:0005515	protein binding	Molecular Function	IPI[17028174]	910
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	Biological Process		78
GO:0001701	in utero embryonic development	Biological Process		32
GO:2001170	negative regulation of ATP biosynthetic process	Biological Process		1
GO:2000973	regulation of pro-B cell differentiation	Biological Process		1
GO:2000506	negative regulation of energy homeostasis	Biological Process		1

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05211	Renal cell carcinoma	13	Renal cell cancer (RCC) accounts for ~3% of human malignanci...... Renal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal cancer accounts for 1-4% of cases. RCC is not a single disease, it has several morphological subtypes. Conventional RCC (clear cell RCC) accounts for ~80% of cases, followed by papillary RCC (10-15%), chromophobe RCC (5%), and collecting duct RCC (<1%). Genes potentially involved in sporadic neoplasms of each particular type are VHL, MET, BHD, and FH respectively. In the absence of VHL, hypoxia-inducible factor alpha (HIF-alpha) accumulates, leading to production of several growth factors, including vascular endothelial growth factor and platelet-derived growth factor. Activated MET mediates a number of biological effects including motility, invasion of extracellular matrix, cellular transformation, prevention of apoptosis and metastasis formation. Loss of functional FH leads to accumulation of fumarate in the cell, triggering inhibition of HPH and preventing targeted pVHL-mediated degradation of HIF-alpha. BHD mutations cause the Birt-Hogg-Dube syndrome and its associated chromophobe, hybrid oncocytic, and conventional (clear cell) RCC. More...

Genes shared at least 5 GO terms with FLCN (count: 48)

Gene Symbol	Pathway Count	Pathway List
VEGFA	8	positive regulation of cell adhesion; positive regulation of transcription from RNA polymerase II promoter; positive regulation of gene expression; cytoplasm; positive regulation of protein phosphorylation; protein binding; negative regulation of transcription from RNA polymerase II promoter; in utero embryonic development;
MEN1	8	positive regulation of transcription from RNA polymerase II promoter; positive regulation of apoptotic process; positive regulation of transforming growth factor beta receptor signaling pathway; hemopoiesis; cytoplasm; nucleus; protein binding; negative regulation of transcription from RNA polymerase II promoter;
STRN3	7	positive regulation of transcription from RNA polymerase II promoter; protein complex binding; plasma membrane; cytoplasm; nucleus; protein binding; negative regulation of transcription from RNA polymerase II promoter;
APC	6	positive regulation of cell adhesion; positive regulation of apoptotic process; plasma membrane; cytoplasm; nucleus; protein binding;
PTPRJ	6	positive regulation of cell adhesion; negative regulation of protein kinase B signaling cascade; negative regulation of cell migration; negative regulation of cell growth; plasma membrane; protein binding;
HEY2	6	positive regulation of transcription from RNA polymerase II promoter; negative regulation of gene expression; cytoplasm; nucleus; protein binding; negative regulation of transcription from RNA polymerase II promoter;
TFAP2A	6	positive regulation of transcription from RNA polymerase II promoter; positive regulation of gene expression; cytoplasm; nucleus; protein binding; negative regulation of transcription from RNA polymerase II promoter;
WWOX	6	positive regulation of transcription from RNA polymerase II promoter; positive regulation of apoptotic process; plasma membrane; cytoplasm; nucleus; protein binding;
MAGI2	6	negative regulation of protein kinase B signaling cascade; negative regulation of cell migration; plasma membrane; cytoplasm; nucleus; protein binding;
APBB1	6	positive regulation of apoptotic process; negative regulation of cell growth; plasma membrane; cytoplasm; nucleus; protein binding;
WNT11	6	positive regulation of apoptotic process; negative regulation of cell migration; negative regulation of cell growth; positive regulation of gene expression; plasma membrane; cytoplasm;
CRYAB	6	negative regulation of cell growth; negative regulation of gene expression; plasma membrane; cytoplasm; nucleus; protein binding;
ID2	6	negative regulation of gene expression; positive regulation of gene expression; cytoplasm; nucleus; protein binding; negative regulation of transcription from RNA polymerase II promoter;
TLR4	5	negative regulation of ERK1 and ERK2 cascade; positive regulation of transcription from RNA polymerase II promoter; plasma membrane; cytoplasm; protein binding;
ERBB2	5	positive regulation of cell adhesion; plasma membrane; positive regulation of protein phosphorylation; nucleus; protein binding;
ARRB1	5	positive regulation of transcription from RNA polymerase II promoter; plasma membrane; cytoplasm; nucleus; protein binding;
BCL11A	5	positive regulation of transcription from RNA polymerase II promoter; negative regulation of gene expression; hemopoiesis; cytoplasm; nucleus;
DAB2IP	5	positive regulation of transcription from RNA polymerase II promoter; positive regulation of apoptotic process; plasma membrane; cytoplasm; negative regulation of transcription from RNA polymerase II promoter;
DRD2	5	positive regulation of transcription from RNA polymerase II promoter; negative regulation of protein kinase B signaling cascade; negative regulation of cell migration; plasma membrane; protein binding;
DRD3	5	positive regulation of transcription from RNA polymerase II promoter; negative regulation of protein kinase B signaling cascade; plasma membrane; protein binding; negative regulation of transcription from RNA polymerase II promoter;
GATA6	5	positive regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; negative regulation of transcription from RNA polymerase II promoter; in utero embryonic development;
GSK3B	5	positive regulation of transcription from RNA polymerase II promoter; plasma membrane; cytoplasm; nucleus; protein binding;
HES1	5	positive regulation of transcription from RNA polymerase II promoter; cytoplasm; nucleus; protein binding; negative regulation of transcription from RNA polymerase II promoter;
IRF7	5	positive regulation of transcription from RNA polymerase II promoter; cytoplasm; nucleus; protein binding; negative regulation of transcription from RNA polymerase II promoter;
KAT5	5	positive regulation of transcription from RNA polymerase II promoter; protein complex binding; nucleus; protein binding; negative regulation of transcription from RNA polymerase II promoter;
KDM1A	5	positive regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; negative regulation of transcription from RNA polymerase II promoter; in utero embryonic development;
MED1	5	positive regulation of transcription from RNA polymerase II promoter; positive regulation of gene expression; nucleus; protein binding; negative regulation of transcription from RNA polymerase II promoter;
NCK1	5	positive regulation of transcription from RNA polymerase II promoter; plasma membrane; cytoplasm; nucleus; protein binding;
PRKD1	5	positive regulation of transcription from RNA polymerase II promoter; plasma membrane; cytoplasm; nucleus; protein binding;
RBPJ	5	positive regulation of transcription from RNA polymerase II promoter; cytoplasm; nucleus; protein binding; negative regulation of transcription from RNA polymerase II promoter;
RELA	5	positive regulation of transcription from RNA polymerase II promoter; protein complex binding; cytoplasm; nucleus; protein binding;
SNW1	5	positive regulation of transcription from RNA polymerase II promoter; positive regulation of transforming growth factor beta receptor signaling pathway; nucleus; protein binding; negative regulation of transcription from RNA polymerase II promoter;
SREBF1	5	positive regulation of transcription from RNA polymerase II promoter; protein complex binding; nucleus; protein binding; negative regulation of transcription from RNA polymerase II promoter;
ARRB2	5	protein complex binding; plasma membrane; cytoplasm; nucleus; protein binding;
PTCH1	5	protein complex binding; midbody; plasma membrane; protein binding; negative regulation of transcription from RNA polymerase II promoter;
RNF40	5	protein complex binding; plasma membrane; cytoplasm; nucleus; protein binding;
RPTOR	5	protein complex binding; TOR signaling cascade; positive regulation of TOR signaling cascade; cytoplasm; protein binding;
SCAI	5	negative regulation of Rho protein signal transduction; negative regulation of cell migration; cytoplasm; nucleus; protein binding;
MAPK9	5	positive regulation of apoptotic process; positive regulation of gene expression; response to stress; positive regulation of protein phosphorylation; protein binding;
PRKAA1	5	negative regulation of TOR signaling cascade; positive regulation of gene expression; response to stress; nucleus; protein binding;
NF2	5	negative regulation of cell migration; plasma membrane; cytoplasm; nucleus; protein binding;
ADAM17	5	positive regulation of transforming growth factor beta receptor signaling pathway; plasma membrane; cytoplasm; positive regulation of protein phosphorylation; protein binding;
DAB2	5	positive regulation of transforming growth factor beta receptor signaling pathway; positive regulation of protein phosphorylation; nucleus; protein binding; in utero embryonic development;
CTNND1	5	midbody; plasma membrane; cytoplasm; nucleus; protein binding;
HINFP	5	negative regulation of gene expression; positive regulation of gene expression; nucleus; protein binding; in utero embryonic development;
FLT4	5	plasma membrane; cytoplasm; positive regulation of protein phosphorylation; nucleus; protein binding;
PDE2A	5	plasma membrane; cytoplasm; nucleus; protein binding; negative regulation of transcription from RNA polymerase II promoter;
TJP1	5	plasma membrane; cytoplasm; cell-cell junction assembly; nucleus; protein binding;

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

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Region: chr17:17115526..17140502 View in gBrowse