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	ATF6
Symbol Alias	ATF6A
Approved Name	activating transcription factor 6
Name Alias	activating transcription factor 6 alpha
Location	1q22-q23
Position	chr1:161736084-161933860, +
External Links	HGNC: 791 Entrez Gene: 22926 Ensembl: ENSG00000118217 UCSC: uc001gbr.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]_17	chr1:159732044-160485312 (NCBI Build 36.1 (hg18))	701326	1q23.3	Loss

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 18)

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

GO terms by database search (count: 18)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0043565	sequence-specific DNA binding	Molecular Function		72
GO:0000139	Golgi membrane	Cellular Component		95
GO:0003700	sequence-specific DNA binding transcription factor activity	Molecular Function		132
GO:0003713	transcription coactivator activity	Molecular Function	TAS[10866666]	52
GO:0005515	protein binding	Molecular Function	IPI[16469704]	910
GO:0005634	nucleus	Cellular Component	TAS[10564271]	770
GO:0005635	nuclear envelope	Cellular Component	TAS[10866666]	19
GO:0005654	nucleoplasm	Cellular Component		183
GO:0005789	endoplasmic reticulum membrane	Cellular Component		140
GO:0006351	transcription, DNA-dependent	Biological Process		247
GO:0006357	regulation of transcription from RNA polymerase II promoter	Biological Process	TAS[10564271]	42
GO:0006457	protein folding	Biological Process	TAS[10564271]	28
GO:0006950	response to stress	Biological Process	TAS[10866666]	30
GO:0006987	activation of signaling protein activity involved in unfolded protein response	Biological Process		13
GO:0006990	positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response	Biological Process	TAS[9837962]	1
GO:0007165	signal transduction	Biological Process	TAS[9271374]	171
GO:0016021	integral to membrane	Cellular Component		845
GO:0030968	endoplasmic reticulum unfolded protein response	Biological Process	TAS[19816510]	16

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05010	Alzheimer's disease	40	Alzheimer's disease (AD) is a chronic disorder that slowly d...... Alzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-beta (Abeta), a major component of senile plaques, has various pathological effects on cell and organelle function. The extracellular Abeta oligomers may activate caspases through activation of cell surface death receptors. Alternatively, intracellular Abeta may contribute to pathology by facilitating tau hyper-phosphorylation, disrupting mitochondria function, and triggering calcium dysfunction. To date genetic studies have revealed four genes that may be linked to autosomal dominant or familial early onset AD (FAD). These four genes include: amyloid precursor protein (APP), presenilin 1 (PS1), presenilin 2 (PS2) and apolipoprotein E (ApoE). All mutations associated with APP and PS proteins can lead to an increase in the production of Abeta peptides, specfically the more amyloidogenic form, Abeta42. FAD-linked PS1 mutation downregulates the unfolded protein response and leads to vulnerability to ER stress. More...
hsa04141	Protein processing in endoplasmic reticulum	26	The endoplasmic reticulum (ER) is a subcellular organelle wh...... The endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylated. Correctly folded proteins are packaged into transport vesicles that shuttle them to the Golgi complex. Misfolded proteins are retained within the ER lumen in complex with molecular chaperones. Proteins that are terminally misfolded bind to BiP and are directed toward degradation through the proteasome in a process called ER-associated degradation (ERAD). Accumulation of misfolded proteins in the ER causes ER stress and activates a signaling pathway called the unfolded protein response (UPR). In certain severe situations, however, the protective mechanisms activated by the UPR are not sufficient to restore normal ER function and cells die by apoptosis. More...

Genes shared at least 5 GO terms with ATF6 (count: 43)

Gene Symbol	Pathway Count	Pathway List
SREBF1	10	sequence-specific DNA binding; Golgi membrane; sequence-specific DNA binding transcription factor activity; protein binding; nucleus; nuclear envelope; endoplasmic reticulum membrane; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; integral to membrane;
NCOR1	6	sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; protein binding; nucleus; nucleoplasm; transcription, DNA-dependent;
NR3C2	6	sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; protein binding; nucleoplasm; endoplasmic reticulum membrane; signal transduction;
NR4A2	6	sequence-specific DNA binding; protein binding; nucleus; nucleoplasm; transcription, DNA-dependent; signal transduction;
POU2F3	6	sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; protein binding; nucleus; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter;
YIF1A	6	Golgi membrane; protein binding; endoplasmic reticulum membrane; activation of signaling protein activity involved in unfolded protein response; integral to membrane; endoplasmic reticulum unfolded protein response;
HINFP	6	sequence-specific DNA binding transcription factor activity; transcription coactivator activity; protein binding; nucleus; nucleoplasm; transcription, DNA-dependent;
KDM1A	6	sequence-specific DNA binding transcription factor activity; protein binding; nucleus; nucleoplasm; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter;
SMARCB1	6	transcription coactivator activity; protein binding; nucleus; nucleoplasm; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter;
SMARCD3	6	transcription coactivator activity; protein binding; nucleus; nucleoplasm; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter;
MAPK1	6	protein binding; nucleus; nucleoplasm; transcription, DNA-dependent; response to stress; signal transduction;
SYVN1	6	protein binding; nucleus; endoplasmic reticulum membrane; activation of signaling protein activity involved in unfolded protein response; integral to membrane; endoplasmic reticulum unfolded protein response;
BATF2	5	sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; protein binding; nucleus; transcription, DNA-dependent;
CREBZF	5	sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; protein binding; nucleus; transcription, DNA-dependent;
ETS1	5	sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; protein binding; nucleus; transcription, DNA-dependent;
HOXA1	5	sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; protein binding; nucleus; transcription, DNA-dependent;
HOXA5	5	sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; protein binding; nucleus; transcription, DNA-dependent;
HOXA9	5	sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; protein binding; nucleus; transcription, DNA-dependent;
LMX1B	5	sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; protein binding; nucleus; transcription, DNA-dependent;
MEN1	5	sequence-specific DNA binding; protein binding; nucleus; nucleoplasm; transcription, DNA-dependent;
NR5A1	5	sequence-specific DNA binding; transcription coactivator activity; protein binding; nucleus; nucleoplasm;
PGR	5	sequence-specific DNA binding; protein binding; nucleus; nucleoplasm; signal transduction;
RELA	5	sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; protein binding; nucleus; nucleoplasm;
RORA	5	sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; protein binding; nucleoplasm; signal transduction;
TBX1	5	sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter;
ZNF24	5	sequence-specific DNA binding; sequence-specific DNA binding transcription factor activity; protein binding; nucleus; transcription, DNA-dependent;
CBFA2T3	5	Golgi membrane; sequence-specific DNA binding transcription factor activity; protein binding; nucleoplasm; transcription, DNA-dependent;
LMAN1	5	Golgi membrane; protein binding; endoplasmic reticulum membrane; protein folding; integral to membrane;
MBTPS1	5	Golgi membrane; endoplasmic reticulum membrane; activation of signaling protein activity involved in unfolded protein response; integral to membrane; endoplasmic reticulum unfolded protein response;
ELK3	5	sequence-specific DNA binding transcription factor activity; protein binding; nucleus; transcription, DNA-dependent; signal transduction;
HIRA	5	sequence-specific DNA binding transcription factor activity; protein binding; nucleus; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter;
HMGA1	5	sequence-specific DNA binding transcription factor activity; protein binding; nucleus; nucleoplasm; transcription, DNA-dependent;
NPAT	5	sequence-specific DNA binding transcription factor activity; transcription coactivator activity; protein binding; nucleus; transcription, DNA-dependent;
SP4	5	sequence-specific DNA binding transcription factor activity; transcription coactivator activity; nucleus; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter;
TAF10	5	sequence-specific DNA binding transcription factor activity; transcription coactivator activity; protein binding; nucleus; nucleoplasm;
SNW1	5	transcription coactivator activity; protein binding; nucleus; nucleoplasm; regulation of transcription from RNA polymerase II promoter;
SUB1	5	transcription coactivator activity; protein binding; nucleus; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter;
UTF1	5	transcription coactivator activity; protein binding; nucleus; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter;
ERBB2	5	protein binding; nucleus; transcription, DNA-dependent; signal transduction; integral to membrane;
HSPA5	5	protein binding; nucleus; endoplasmic reticulum membrane; activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response;
PDIA6	5	protein binding; endoplasmic reticulum membrane; protein folding; activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response;
PRKAA1	5	protein binding; nucleus; transcription, DNA-dependent; response to stress; signal transduction;
PRKCB	5	protein binding; nucleus; transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; signal transduction;

Genes shared at least 2 KEGG pathways with ATF6 (count: 1)

Gene Symbol	Pathway Count	Pathway List
CAPN1	2	Alzheimer's disease; Protein processing in endoplasmic reticulum;

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Region: chr1:161736084..161933860 View in gBrowse