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	EDEM2
Previous Symbol	C20orf49, C20orf31
Symbol Alias	FLJ10783, bA4204.1
Approved Name	ER degradation enhancer, mannosidase alpha-like 2
Previous Name	chromosome 20 open reading frame 31
Location	20q11.22
Position	chr20:33703160-33735167, -
External Links	HGNC: 15877 Entrez Gene: 55741 Ensembl: ENSG00000088298 UCSC: uc002xbo.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 0)

Gene related SNPs (count: 9)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs1555322	Chr20:33849179(Fwd)	intron_variant; nc_transcript_variant	1(0/0/1)

LD-proxies (count: 8)

rs_ID	Location	Functional Annotation
rs1205411	Chr20:33857242(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2425037	Chr20:33856429(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2425032	Chr20:33855454(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2425027	Chr20:33849390(Fwd)	intron_variant; nc_transcript_variant
rs2247828	Chr20:33839939(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2425022	Chr20:33831187(Fwd)	intron_variant; nc_transcript_variant
rs2425021	Chr20:33829778(Fwd)	intron_variant; nc_transcript_variant
rs2425016	Chr20:33807249(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 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:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	Molecular Function	IDA[15537790]	3
GO:0005788	endoplasmic reticulum lumen	Cellular Component		33
GO:0005789	endoplasmic reticulum membrane	Cellular Component		140
GO:0005509	calcium ion binding	Molecular Function		124
GO:0005576	extracellular region	Cellular Component		240
GO:0018279	protein N-linked glycosylation via asparagine	Biological Process		24
GO:0043687	post-translational protein modification	Biological Process		37
GO:0006457	protein folding	Biological Process		28
GO:0006986	response to unfolded protein	Biological Process		10
GO:0044267	cellular protein metabolic process	Biological Process		64

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 EDEM2 (count: 8)

Gene Symbol	Pathway Count	Pathway List
EDEM3	9	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity; endoplasmic reticulum lumen; endoplasmic reticulum membrane; calcium ion binding; protein N-linked glycosylation via asparagine; post-translational protein modification; protein folding; response to unfolded protein; cellular protein metabolic process;
CANX	7	endoplasmic reticulum lumen; endoplasmic reticulum membrane; calcium ion binding; protein N-linked glycosylation via asparagine; post-translational protein modification; protein folding; cellular protein metabolic process;
MAN1A1	5	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity; calcium ion binding; protein N-linked glycosylation via asparagine; post-translational protein modification; cellular protein metabolic process;
F10	5	endoplasmic reticulum lumen; calcium ion binding; extracellular region; post-translational protein modification; cellular protein metabolic process;
F7	5	endoplasmic reticulum lumen; calcium ion binding; extracellular region; post-translational protein modification; cellular protein metabolic process;
GANAB	5	endoplasmic reticulum lumen; protein N-linked glycosylation via asparagine; post-translational protein modification; protein folding; cellular protein metabolic process;
PDIA3	5	endoplasmic reticulum lumen; protein N-linked glycosylation via asparagine; post-translational protein modification; protein folding; cellular protein metabolic process;
LMAN1	5	endoplasmic reticulum membrane; protein N-linked glycosylation via asparagine; post-translational protein modification; protein folding; cellular protein metabolic process;

Genes shared at least 2 KEGG pathways with EDEM2 (count: 0)

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Region: chr20:33703160..33735167 View in gBrowse