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	UBE2L6
Symbol Alias	UBCH8
Approved Name	ubiquitin-conjugating enzyme E2L 6
Location	11q12.1
Position	chr11:57319129-57335757, -
External Links	HGNC: 12490 Entrez Gene: 9246 Ensembl: ENSG00000156587 UCSC: uc001nkn.1
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)
11q	chr11:53700000-135006516	2 (1/1/0)

Gene related GO terms (count: 10)

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

GO terms by database search (count: 10)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005515	protein binding	Molecular Function	IPI[16709802]	910
GO:0004842	ubiquitin-protein ligase activity	Molecular Function		52
GO:0019941	modification-dependent protein catabolic process	Biological Process		1
GO:0019221	cytokine-mediated signaling pathway	Biological Process		28
GO:0006464	cellular protein modification process	Biological Process	TAS[9153201]	13
GO:0005829	cytosol	Cellular Component		447
GO:0045087	innate immune response	Biological Process		54
GO:0042296	ISG15 ligase activity	Molecular Function		2
GO:0032480	negative regulation of type I interferon production	Biological Process		10
GO:0032020	ISG15-protein conjugation	Biological Process		2

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04120	Ubiquitin mediated proteolysis	29	Protein ubiquitination plays an important role in eukaryotic...... Protein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to proteins being degraded is performed by a reaction cascade consisting of three enzymes, named E1 (ubiquitin activating enzyme), E2 (ubiquitin conjugating enzyme), and E3 (ubiquitin ligase). Each E3 has specificity to its substrate, or proteins to be targeted by ubiquitination. Many E3s are discovered in eukaryotes and they are classified into four types: HECT type, U-box type, single RING-finger type, and multi-subunit RING-finger type. Multi-subunit RING-finger E3s are exemplified by cullin-Rbx E3s and APC/C. They consist of a RING-finger-containing subunit (RBX1 or RBX2) that functions to bind E2s, a scaffold-like cullin molecule, adaptor proteins, and a target recognizing subunit that binds substrates. More...
hsa05012	Parkinson's disease	22	Parkinson's disease (PD) is a progressive neurodegenerative ...... Parkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic neurons in the substantia nigra. Mutations in alpha-synuclein, UCHL1 (a ubiquitin carboxy-terminal hydrolase L1), parkin, DJ1 (a parkin-associated protein involved with oxidative stress), and PINK1 (a putative serine threonine kinase) are known to cause early-onset PD. These pathogenic mutations are associated with disease through pathogenic pathways that may commonly lead proteasome dysfunction, mitochondrial impairment, and oxidative stress. Point mutations in alpha-synuclein lead to excessive intracellular accumulation and protofibril formation. Decrease in the amount of soluble alpha-synuclein tends to increase free cytoplasmic dopamine and the formation of reactive oxygen species (ROS). Modification of parkin and UCHL1 are associated with the ubiquitin-proteasome system pathway and may increase proteotoxic stress. Mutations in parkin, DJ1, and PINK1 may alter mitochondiral activity, potentially impairing proteasomal function. Environmental toxins such as N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and rotenone can cause mitochondrial dysfunction and oxidative stress. More...

Genes shared at least 5 GO terms with UBE2L6 (count: 4)

Gene Symbol	Pathway Count	Pathway List
HERC5	8	protein binding; ubiquitin-protein ligase activity; cytokine-mediated signaling pathway; cytosol; innate immune response; ISG15 ligase activity; negative regulation of type I interferon production; ISG15-protein conjugation;
TNFAIP3	5	protein binding; ubiquitin-protein ligase activity; cytosol; innate immune response; negative regulation of type I interferon production;
UBB	5	protein binding; cytokine-mediated signaling pathway; cytosol; innate immune response; negative regulation of type I interferon production;
UBC	5	protein binding; cytokine-mediated signaling pathway; cytosol; innate immune response; negative regulation of type I interferon production;

Genes shared at least 2 KEGG pathways with UBE2L6 (count: 1)

Gene Symbol	Pathway Count	Pathway List
PARK2	2	Ubiquitin mediated proteolysis; Parkinson's disease;

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Region: chr11:57319129..57335757 View in gBrowse