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	E2F5
Approved Name	E2F transcription factor 5, p130-binding
Location	8q21.2
Position	chr8:86089460-86129387, +
External Links	HGNC: 3119 Entrez Gene: 1875 Ensembl: ENSG00000133740 UCSC: uc003ycz.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]_6	chr8:85438801-88424995 (NCBI Build 36.1 (hg18))	2935186	8q21.2-8q21.3	Loss	Paternal

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 15)

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

GO terms by database search (count: 15)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005737	cytoplasm	Cellular Component		690
GO:0006351	transcription, DNA-dependent	Biological Process		247
GO:0005654	nucleoplasm	Cellular Component		183
GO:0005667	transcription factor complex	Cellular Component		51
GO:0003700	sequence-specific DNA binding transcription factor activity	Molecular Function		132
GO:0005515	protein binding	Molecular Function	IPI[16360038]	910
GO:0000278	mitotic cell cycle	Biological Process		63
GO:0003677	DNA binding	Molecular Function		220
GO:0000080	G1 phase of mitotic cell cycle	Biological Process		6
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process		131
GO:0010467	gene expression	Biological Process		140
GO:0009887	organ morphogenesis	Biological Process		19
GO:0008134	transcription factor binding	Molecular Function	IPI[16360038]	38
GO:0007179	transforming growth factor beta receptor signaling pathway	Biological Process		14
GO:0006367	transcription initiation from RNA polymerase II promoter	Biological Process		42

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04110	Cell cycle	19	Mitotic cell cycle progression is accomplished through a rep...... Mitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cyclin-dependent kinases (CDKs) are key regulatory enzymes, each consisting of a catalytic CDK subunit and an activating cyclin subunit. CDKs regulate the cell's progression through the phases of the cell cycle by modulating the activity of key substrates. Downstream targets of CDKs include transcription factor E2F and its regulator Rb. Precise activation and inactivation of CDKs at specific points in the cell cycle are required for orderly cell division. Cyclin-CDK inhibitors (CKIs), such as p16Ink4a, p15Ink4b, p27Kip1, and p21Cip1, are involved in the negative regulation of CDK activities, thus providing a pathway through which the cell cycle is negatively regulated. More...
hsa04350	TGF-beta signaling pathway	10	The transforming growth factor-beta (TGF-beta) family member...... The transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species ranging from worms and insects to mammals. A wide spectrum of cellular functions such as proliferation, apoptosis, differentiation and migration are regulated by TGF-beta family members. TGF-beta family member binds to the Type II receptor and recruits Type I, whereby Type II receptor phosphorylates and activates Type I. The Type I receptor, in turn, phosphorylates receptor-activated Smads ( R-Smads: Smad1, Smad2, Smad3, Smad5, and Smad8). Once phosphorylated, R-Smads associate with the co-mediator Smad, Smad4, and the heteromeric complex then translocates into the nucleus. In the nucleus, Smad complexes activate specific genes through cooperative interactions with other DNA-binding and coactivator (or co-repressor) proteins. More...

Genes shared at least 5 GO terms with E2F5 (count: 69)

Gene Symbol	Pathway Count	Pathway List
NCOR1	9	cytoplasm; transcription, DNA-dependent; nucleoplasm; transcription factor complex; sequence-specific DNA binding transcription factor activity; protein binding; gene expression; transforming growth factor beta receptor signaling pathway; transcription initiation from RNA polymerase II promoter;
RELA	9	cytoplasm; nucleoplasm; transcription factor complex; sequence-specific DNA binding transcription factor activity; protein binding; DNA binding; positive regulation of transcription from RNA polymerase II promoter; organ morphogenesis; transcription factor binding;
UBB	9	transcription, DNA-dependent; nucleoplasm; protein binding; mitotic cell cycle; G1 phase of mitotic cell cycle; positive regulation of transcription from RNA polymerase II promoter; gene expression; transforming growth factor beta receptor signaling pathway; transcription initiation from RNA polymerase II promoter;
UBC	9	transcription, DNA-dependent; nucleoplasm; protein binding; mitotic cell cycle; G1 phase of mitotic cell cycle; positive regulation of transcription from RNA polymerase II promoter; gene expression; transforming growth factor beta receptor signaling pathway; transcription initiation from RNA polymerase II promoter;
MEN1	8	cytoplasm; transcription, DNA-dependent; nucleoplasm; protein binding; positive regulation of transcription from RNA polymerase II promoter; gene expression; transforming growth factor beta receptor signaling pathway; transcription initiation from RNA polymerase II promoter;
RBPJ	8	cytoplasm; nucleoplasm; sequence-specific DNA binding transcription factor activity; protein binding; DNA binding; positive regulation of transcription from RNA polymerase II promoter; gene expression; transcription initiation from RNA polymerase II promoter;
MAPK1	7	cytoplasm; transcription, DNA-dependent; nucleoplasm; protein binding; DNA binding; organ morphogenesis; transcription factor binding;
NEDD4L	7	cytoplasm; transcription, DNA-dependent; nucleoplasm; protein binding; gene expression; transforming growth factor beta receptor signaling pathway; transcription initiation from RNA polymerase II promoter;
NR4A2	7	cytoplasm; transcription, DNA-dependent; nucleoplasm; protein binding; positive regulation of transcription from RNA polymerase II promoter; gene expression; transcription initiation from RNA polymerase II promoter;
YAP1	7	cytoplasm; nucleoplasm; transcription factor complex; protein binding; positive regulation of transcription from RNA polymerase II promoter; gene expression; transcription initiation from RNA polymerase II promoter;
ETS1	7	transcription, DNA-dependent; transcription factor complex; sequence-specific DNA binding transcription factor activity; protein binding; DNA binding; positive regulation of transcription from RNA polymerase II promoter; transcription factor binding;
HMGA1	7	transcription, DNA-dependent; nucleoplasm; transcription factor complex; sequence-specific DNA binding transcription factor activity; protein binding; DNA binding; transcription factor binding;
KDM1A	7	transcription, DNA-dependent; nucleoplasm; transcription factor complex; sequence-specific DNA binding transcription factor activity; protein binding; positive regulation of transcription from RNA polymerase II promoter; transcription factor binding;
NCOR2	7	transcription, DNA-dependent; nucleoplasm; protein binding; DNA binding; gene expression; transforming growth factor beta receptor signaling pathway; transcription initiation from RNA polymerase II promoter;
ATXN1	6	cytoplasm; transcription, DNA-dependent; nucleoplasm; protein binding; DNA binding; positive regulation of transcription from RNA polymerase II promoter;
HES1	6	cytoplasm; sequence-specific DNA binding transcription factor activity; protein binding; DNA binding; positive regulation of transcription from RNA polymerase II promoter; transcription factor binding;
PGR	6	cytoplasm; nucleoplasm; protein binding; DNA binding; gene expression; transcription initiation from RNA polymerase II promoter;
POU2F3	6	cytoplasm; transcription, DNA-dependent; transcription factor complex; sequence-specific DNA binding transcription factor activity; protein binding; positive regulation of transcription from RNA polymerase II promoter;
TAF10	6	cytoplasm; nucleoplasm; sequence-specific DNA binding transcription factor activity; protein binding; gene expression; transcription initiation from RNA polymerase II promoter;
TAF4B	6	cytoplasm; nucleoplasm; sequence-specific DNA binding transcription factor activity; DNA binding; gene expression; transcription initiation from RNA polymerase II promoter;
XPO1	6	cytoplasm; nucleoplasm; protein binding; mitotic cell cycle; gene expression; transforming growth factor beta receptor signaling pathway;
ZFPM1	6	cytoplasm; nucleoplasm; transcription factor complex; protein binding; DNA binding; transcription factor binding;
ESRRA	6	nucleoplasm; protein binding; DNA binding; positive regulation of transcription from RNA polymerase II promoter; gene expression; transcription initiation from RNA polymerase II promoter;
GATA6	6	nucleoplasm; transcription factor complex; sequence-specific DNA binding transcription factor activity; protein binding; positive regulation of transcription from RNA polymerase II promoter; transcription factor binding;
MED1	6	nucleoplasm; protein binding; positive regulation of transcription from RNA polymerase II promoter; gene expression; transcription factor binding; transcription initiation from RNA polymerase II promoter;
NR5A1	6	nucleoplasm; protein binding; DNA binding; positive regulation of transcription from RNA polymerase II promoter; gene expression; transcription initiation from RNA polymerase II promoter;
RORA	6	nucleoplasm; sequence-specific DNA binding transcription factor activity; protein binding; positive regulation of transcription from RNA polymerase II promoter; gene expression; transcription initiation from RNA polymerase II promoter;
TAF13	6	nucleoplasm; sequence-specific DNA binding transcription factor activity; protein binding; DNA binding; gene expression; transcription initiation from RNA polymerase II promoter;
BSX	5	cytoplasm; transcription, DNA-dependent; transcription factor complex; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter;
DHX9	5	cytoplasm; nucleoplasm; protein binding; DNA binding; gene expression;
FOXP2	5	cytoplasm; transcription factor complex; sequence-specific DNA binding transcription factor activity; DNA binding; transcription factor binding;
FUS	5	cytoplasm; nucleoplasm; protein binding; DNA binding; gene expression;
HEY2	5	cytoplasm; sequence-specific DNA binding transcription factor activity; protein binding; positive regulation of transcription from RNA polymerase II promoter; transcription factor binding;
HOXA9	5	cytoplasm; transcription, DNA-dependent; transcription factor complex; sequence-specific DNA binding transcription factor activity; protein binding;
HOXB1	5	cytoplasm; transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; DNA binding; positive regulation of transcription from RNA polymerase II promoter;
IGHMBP2	5	cytoplasm; transcription, DNA-dependent; protein binding; DNA binding; transcription factor binding;
IKZF1	5	cytoplasm; transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; DNA binding; positive regulation of transcription from RNA polymerase II promoter;
IRF7	5	cytoplasm; nucleoplasm; protein binding; DNA binding; positive regulation of transcription from RNA polymerase II promoter;
PSMC3	5	cytoplasm; nucleoplasm; protein binding; mitotic cell cycle; gene expression;
SMARCD3	5	cytoplasm; transcription, DNA-dependent; nucleoplasm; protein binding; transcription factor binding;
SMC1A	5	cytoplasm; nucleoplasm; protein binding; mitotic cell cycle; gene expression;
SSRP1	5	cytoplasm; nucleoplasm; protein binding; DNA binding; gene expression;
STRN3	5	cytoplasm; nucleoplasm; sequence-specific DNA binding transcription factor activity; protein binding; positive regulation of transcription from RNA polymerase II promoter;
TCF25	5	cytoplasm; transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; protein binding; DNA binding;
TFEB	5	cytoplasm; transcription, DNA-dependent; transcription factor complex; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter;
XRCC5	5	cytoplasm; transcription, DNA-dependent; nucleoplasm; protein binding; DNA binding;
BARX2	5	transcription, DNA-dependent; transcription factor complex; sequence-specific DNA binding transcription factor activity; DNA binding; positive regulation of transcription from RNA polymerase II promoter;
CBFA2T3	5	transcription, DNA-dependent; nucleoplasm; sequence-specific DNA binding transcription factor activity; protein binding; positive regulation of transcription from RNA polymerase II promoter;
HES6	5	transcription, DNA-dependent; transcription factor complex; sequence-specific DNA binding transcription factor activity; DNA binding; transcription factor binding;
HINFP	5	transcription, DNA-dependent; nucleoplasm; sequence-specific DNA binding transcription factor activity; protein binding; DNA binding;
HOXA5	5	transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; protein binding; DNA binding; positive regulation of transcription from RNA polymerase II promoter;
MYB	5	transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; protein binding; DNA binding; positive regulation of transcription from RNA polymerase II promoter;
NPAS2	5	transcription, DNA-dependent; transcription factor complex; sequence-specific DNA binding transcription factor activity; DNA binding; positive regulation of transcription from RNA polymerase II promoter;
PHF5A	5	transcription, DNA-dependent; nucleoplasm; sequence-specific DNA binding transcription factor activity; DNA binding; gene expression;
SREBF1	5	transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; protein binding; DNA binding; positive regulation of transcription from RNA polymerase II promoter;
MAML1	5	nucleoplasm; protein binding; positive regulation of transcription from RNA polymerase II promoter; gene expression; transcription initiation from RNA polymerase II promoter;
MAPK3	5	nucleoplasm; protein binding; positive regulation of transcription from RNA polymerase II promoter; gene expression; organ morphogenesis;
MED17	5	nucleoplasm; transcription factor complex; positive regulation of transcription from RNA polymerase II promoter; gene expression; transcription initiation from RNA polymerase II promoter;
MED23	5	nucleoplasm; transcription factor complex; protein binding; gene expression; transcription initiation from RNA polymerase II promoter;
MED7	5	nucleoplasm; transcription factor complex; protein binding; gene expression; transcription initiation from RNA polymerase II promoter;
NCOA6	5	nucleoplasm; transcription factor complex; protein binding; positive regulation of transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter;
NR3C2	5	nucleoplasm; sequence-specific DNA binding transcription factor activity; protein binding; gene expression; transcription initiation from RNA polymerase II promoter;
NR4A3	5	nucleoplasm; transcription factor complex; DNA binding; gene expression; transcription initiation from RNA polymerase II promoter;
NR6A1	5	nucleoplasm; transcription factor complex; DNA binding; gene expression; transcription initiation from RNA polymerase II promoter;
SNW1	5	nucleoplasm; protein binding; positive regulation of transcription from RNA polymerase II promoter; gene expression; transcription initiation from RNA polymerase II promoter;
FOXE1	5	transcription factor complex; sequence-specific DNA binding transcription factor activity; DNA binding; positive regulation of transcription from RNA polymerase II promoter; transcription factor binding;
FOXG1	5	transcription factor complex; protein binding; DNA binding; positive regulation of transcription from RNA polymerase II promoter; transcription factor binding;
FOXL1	5	transcription factor complex; sequence-specific DNA binding transcription factor activity; DNA binding; organ morphogenesis; transcription factor binding;
HNF1B	5	transcription factor complex; sequence-specific DNA binding transcription factor activity; protein binding; DNA binding; positive regulation of transcription from RNA polymerase II promoter;

Genes shared at least 2 KEGG pathways with E2F5 (count: 0)

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Region: chr8:86089460..86129387 View in gBrowse