ADHDgene Database

Gene Report

Basic Info

Approved Symbol	DERL3
Previous Symbol	C22orf14
Symbol Alias	FLJ43842, MGC71803, derlin-3, IZP6
Approved Name	Der1-like domain family, member 3
Previous Name	chromosome 22 open reading frame 14
Location	22q11.23
Position	chr22:24176690-24181315, -
External Links	HGNC: 14236 Entrez Gene: 91319 Ensembl: ENSG00000099958 UCSC: uc002zyk.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_Williams[2010]_37	chr22:22020325-23326630 (NCBI Build 36.1 (hg18))	1306306	22q11.23	Gain

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0030433	ER-associated protein catabolic process	Biological Process	NAS[16449189]	7
GO:0030968	endoplasmic reticulum unfolded protein response	Biological Process	IDA[16449189]	16
GO:0018279	protein N-linked glycosylation via asparagine	Biological Process		24
GO:0030176	integral to endoplasmic reticulum membrane	Cellular Component	IDA[16449189]	14
GO:0005515	protein binding	Molecular Function	IPI[16449189]	910

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 DERL3 (count: 0)

Genes shared at least 2 KEGG pathways with DERL3 (count: 0)

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Region: chr22:24176690..24181315 View in gBrowse