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	SQSTM1
Previous Symbol	PDB3, OSIL
Symbol Alias	p62, p60, p62B, A170
Approved Name	sequestosome 1
Previous Name	Paget disease of bone 3, "oxidative stress induced like"
Location	5q35
Position	chr5:179233388-179265078, +
External Links	HGNC: 11280 Entrez Gene: 8878 Ensembl: ENSG00000161011 UCSC: uc003mkw.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_Jarick[2012]_14	chr5:178157153-180497731 (NCBI36 / hg18)	2340579	5q35.3	dup

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 35)

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

GO terms by database search (count: 35)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0030154	cell differentiation	Biological Process		51
GO:0030971	receptor tyrosine kinase binding	Molecular Function	TAS[8650207]	2
GO:0031410	cytoplasmic vesicle	Cellular Component		20
GO:0035556	intracellular signal transduction	Biological Process	TAS[8650207]	44
GO:0042169	SH2 domain binding	Molecular Function	IDA[8650207]	7
GO:0042802	identical protein binding	Molecular Function		70
GO:0042803	protein homodimerization activity	Molecular Function		113
GO:0043122	regulation of I-kappaB kinase/NF-kappaB cascade	Biological Process	IMP[12857745]	1
GO:0043130	ubiquitin binding	Molecular Function	IDA[12857745]	9
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process	TAS[12857745]	131
GO:0046578	regulation of Ras protein signal transduction	Biological Process	NAS[8618896]	3
GO:0048011	nerve growth factor receptor signaling pathway	Biological Process		42
GO:0051291	protein heterooligomerization	Biological Process		10
GO:0070530	K63-linked polyubiquitin binding	Molecular Function		2
GO:0016236	macroautophagy	Biological Process		2
GO:0019901	protein kinase binding	Molecular Function	IDA[8650207]	51
GO:0008270	zinc ion binding	Molecular Function		323
GO:0016197	endosomal transport	Biological Process	TAS[12857745]	11
GO:0006950	response to stress	Biological Process	TAS[12857745]	30
GO:0008104	protein localization	Biological Process	TAS[8650207]	10
GO:0006914	autophagy	Biological Process	IMP[17580304]; TAS[19816510]	13
GO:0006915	apoptotic process	Biological Process		111
GO:0005829	cytosol	Cellular Component		447
GO:0006511	ubiquitin-dependent protein catabolic process	Biological Process	TAS[8702753]	25
GO:0005776	autophagic vacuole	Cellular Component	IDA[17580304]	4
GO:0005783	endoplasmic reticulum	Cellular Component		100
GO:0005764	lysosome	Cellular Component		31
GO:0005770	late endosome	Cellular Component		14
GO:0005515	protein binding	Molecular Function		910
GO:0005654	nucleoplasm	Cellular Component		183
GO:0005080	protein kinase C binding	Molecular Function	IPI[14676191]	9
GO:0004674	protein serine/threonine kinase activity	Molecular Function	NAS[8618896]	61
GO:0001934	positive regulation of protein phosphorylation	Biological Process		22
GO:0000932	cytoplasmic mRNA processing body	Cellular Component		7
GO:0000407	pre-autophagosomal structure	Cellular Component		1

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04380	Osteoclast differentiation	25	The osteoclasts, multinucleared cells originating from the h...... The osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways activated by RANK and immune receptors, whose ligands are expressed on the surface of osteoblasts. Signaling from RANK changes gene expression patterns through transcription factors like NFATc1 and characterizes the active osteoclast. More...

Genes shared at least 5 GO terms with SQSTM1 (count: 35)

Gene Symbol	Pathway Count	Pathway List
MAPK3	8	positive regulation of transcription from RNA polymerase II promoter; nerve growth factor receptor signaling pathway; apoptotic process; cytosol; late endosome; protein binding; nucleoplasm; positive regulation of protein phosphorylation;
MAPK1	8	nerve growth factor receptor signaling pathway; response to stress; apoptotic process; cytosol; late endosome; protein binding; nucleoplasm; protein serine/threonine kinase activity;
MAPK7	7	cell differentiation; positive regulation of transcription from RNA polymerase II promoter; nerve growth factor receptor signaling pathway; apoptotic process; cytosol; protein binding; nucleoplasm;
GSK3B	7	intracellular signal transduction; positive regulation of transcription from RNA polymerase II promoter; nerve growth factor receptor signaling pathway; protein kinase binding; cytosol; protein binding; protein serine/threonine kinase activity;
PRKCB	7	intracellular signal transduction; zinc ion binding; apoptotic process; cytosol; protein binding; protein kinase C binding; protein serine/threonine kinase activity;
RELA	7	identical protein binding; positive regulation of transcription from RNA polymerase II promoter; nerve growth factor receptor signaling pathway; protein kinase binding; cytosol; protein binding; nucleoplasm;
UBB	7	positive regulation of transcription from RNA polymerase II promoter; nerve growth factor receptor signaling pathway; endosomal transport; apoptotic process; cytosol; protein binding; nucleoplasm;
UBC	7	positive regulation of transcription from RNA polymerase II promoter; nerve growth factor receptor signaling pathway; endosomal transport; apoptotic process; cytosol; protein binding; nucleoplasm;
FADD	6	identical protein binding; positive regulation of transcription from RNA polymerase II promoter; protein heterooligomerization; apoptotic process; cytosol; protein binding;
MLL	6	identical protein binding; protein homodimerization activity; positive regulation of transcription from RNA polymerase II promoter; zinc ion binding; apoptotic process; protein binding;
PAK1	6	identical protein binding; protein kinase binding; apoptotic process; cytosol; protein binding; protein serine/threonine kinase activity;
PRKD1	6	identical protein binding; positive regulation of transcription from RNA polymerase II promoter; apoptotic process; cytosol; protein binding; protein serine/threonine kinase activity;
GATA6	6	positive regulation of transcription from RNA polymerase II promoter; protein kinase binding; zinc ion binding; apoptotic process; protein binding; nucleoplasm;
PARK2	6	protein kinase binding; zinc ion binding; cytosol; ubiquitin-dependent protein catabolic process; endoplasmic reticulum; protein binding;
NR5A1	5	cell differentiation; positive regulation of transcription from RNA polymerase II promoter; zinc ion binding; protein binding; nucleoplasm;
GABARAPL2	5	cytoplasmic vesicle; autophagy; cytosol; autophagic vacuole; protein binding;
AKAP7	5	intracellular signal transduction; protein kinase binding; protein localization; cytosol; protein binding;
ARHGEF4	5	intracellular signal transduction; nerve growth factor receptor signaling pathway; apoptotic process; cytosol; protein binding;
BNIP3	5	identical protein binding; protein homodimerization activity; apoptotic process; protein binding; nucleoplasm;
MAP3K5	5	identical protein binding; protein homodimerization activity; protein kinase binding; endoplasmic reticulum; protein binding;
RIPK3	5	identical protein binding; protein heterooligomerization; cytosol; protein binding; protein serine/threonine kinase activity;
TRIM5	5	identical protein binding; protein homodimerization activity; zinc ion binding; protein binding; cytoplasmic mRNA processing body;
VEGFA	5	identical protein binding; protein homodimerization activity; positive regulation of transcription from RNA polymerase II promoter; protein binding; positive regulation of protein phosphorylation;
ZBTB16	5	identical protein binding; protein homodimerization activity; zinc ion binding; apoptotic process; protein binding;
TNFAIP3	5	ubiquitin binding; zinc ion binding; cytosol; lysosome; protein binding;
ARHGEF2	5	nerve growth factor receptor signaling pathway; zinc ion binding; apoptotic process; cytosol; protein binding;
BAD	5	nerve growth factor receptor signaling pathway; protein kinase binding; apoptotic process; cytosol; protein binding;
TRIO	5	nerve growth factor receptor signaling pathway; apoptotic process; cytosol; protein binding; protein serine/threonine kinase activity;
ILK	5	protein heterooligomerization; protein kinase binding; cytosol; protein binding; protein serine/threonine kinase activity;
PRKAA1	5	protein heterooligomerization; response to stress; autophagy; cytosol; protein binding;
CCND1	5	protein kinase binding; cytosol; protein binding; nucleoplasm; positive regulation of protein phosphorylation;
MAP2K3	5	protein kinase binding; cytosol; protein binding; nucleoplasm; protein serine/threonine kinase activity;
PLK1	5	protein kinase binding; cytosol; protein binding; nucleoplasm; protein serine/threonine kinase activity;
MAPK9	5	response to stress; cytosol; protein binding; nucleoplasm; positive regulation of protein phosphorylation;
PSMC3	5	apoptotic process; cytosol; protein binding; nucleoplasm; cytoplasmic mRNA processing body;

Genes shared at least 2 KEGG pathways with SQSTM1 (count: 0)

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Region: chr5:179233388..179265078 View in gBrowse