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	PDIA6
Previous Symbol	TXNDC7
Symbol Alias	P5, ERp5
Approved Name	protein disulfide isomerase family A, member 6
Previous Name	thioredoxin domain containing 7 (protein disulfide isomerase), "protein disulfide isomerase-associated 6"
Name Alias	protein disulfide isomerase-related protein
Location	2p25.1
Position	chr2:10923517-10978103, -
External Links	HGNC: 30168 Entrez Gene: 10130 Ensembl: ENSG00000143870 UCSC: uc002rau.2
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)
2p25.1	chr2:7100000-12200000	2 (1/0/1)

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:0005793	endoplasmic reticulum-Golgi intermediate compartment	Cellular Component	IDA[15308636]	17
GO:0005886	plasma membrane	Cellular Component		772
GO:0006457	protein folding	Biological Process	TAS[7590364]	28
GO:0006662	glycerol ether metabolic process	Biological Process		5
GO:0005515	protein binding	Molecular Function	IPI[15466936]	910
GO:0005783	endoplasmic reticulum	Cellular Component	TAS[16130169]	100
GO:0005788	endoplasmic reticulum lumen	Cellular Component		33
GO:0005789	endoplasmic reticulum membrane	Cellular Component		140
GO:0042470	melanosome	Cellular Component		22
GO:0045454	cell redox homeostasis	Biological Process		13
GO:0006987	activation of signaling protein activity involved in unfolded protein response	Biological Process		13
GO:0009055	electron carrier activity	Molecular Function		18
GO:0015035	protein disulfide oxidoreductase activity	Molecular Function		6
GO:0030968	endoplasmic reticulum unfolded protein response	Biological Process		16
GO:0003756	protein disulfide isomerase activity	Molecular Function		3

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
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 PDIA6 (count: 9)

Gene Symbol	Pathway Count	Pathway List
PDIA3	10	protein folding; glycerol ether metabolic process; protein binding; endoplasmic reticulum; endoplasmic reticulum lumen; melanosome; cell redox homeostasis; electron carrier activity; protein disulfide oxidoreductase activity; protein disulfide isomerase activity;
HSPA5	8	endoplasmic reticulum-Golgi intermediate compartment; protein binding; endoplasmic reticulum; endoplasmic reticulum lumen; endoplasmic reticulum membrane; melanosome; activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response;
ERP44	6	endoplasmic reticulum-Golgi intermediate compartment; protein folding; endoplasmic reticulum lumen; endoplasmic reticulum membrane; cell redox homeostasis; protein disulfide isomerase activity;
TMED10	6	endoplasmic reticulum-Golgi intermediate compartment; plasma membrane; protein binding; endoplasmic reticulum; endoplasmic reticulum membrane; melanosome;
CANX	6	protein folding; protein binding; endoplasmic reticulum; endoplasmic reticulum lumen; endoplasmic reticulum membrane; melanosome;
YIF1A	5	endoplasmic reticulum-Golgi intermediate compartment; protein binding; endoplasmic reticulum membrane; activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response;
ATF6	5	protein folding; protein binding; endoplasmic reticulum membrane; activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response;
TXN	5	glycerol ether metabolic process; protein binding; cell redox homeostasis; electron carrier activity; protein disulfide oxidoreductase activity;
SYVN1	5	protein binding; endoplasmic reticulum; endoplasmic reticulum membrane; activation of signaling protein activity involved in unfolded protein response; endoplasmic reticulum unfolded protein response;

Genes shared at least 2 KEGG pathways with PDIA6 (count: 0)

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Region: chr2:10923517..10978103 View in gBrowse