Gene Report

ADD to My Gene Set

Basic Info

Approved Symbol	EIF2AK4
Symbol Alias	GCN2, KIAA1338
Approved Name	eukaryotic translation initiation factor 2 alpha kinase 4
Location	15q13.3
Position	chr15:39934146-40035591, 1
External Links	HGNC: 19687 Entrez Gene: 440275 Ensembl: ENSG00000128829 UCSC: uc001zkm.1
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Huang, J.,2010	SNP: rs2117975	No significant association of this gene was observed in BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 10)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006446	regulation of translational initiation	biological process	ISS	2
GO:0004674	protein serine/threonine kinase activity	molecular function	ISS	27

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0017148	negative regulation of translation	biological process	IEA	1
GO:0005524	ATP binding	molecular function	IEA	118
GO:0022626	cytosolic ribosome	cellular component	ISS	2
GO:0006468	protein phosphorylation	biological process	ISS	42
GO:0004694	eukaryotic translation initiation factor 2alpha kinase activity	molecular function	ISS	1
GO:0010998	regulation of translational initiation by eIF2 alpha phosphorylation	biological process	ISS	1
GO:0030968	endoplasmic reticulum unfolded protein response	biological process	IEA	10
GO:0009267	cellular response to starvation	biological process	IEA	6

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
eif2Pathway	Regulation of eIF2	2

Gene related interactors from protein-protein interactions data in HPRD (count: 3)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
EIF2AK4	SMAD1	NO	in vivo	15761153
EIF2AK4	SMAD4	NO	in vivo	15761153
EIF2AK4	TGFBR1	NO	in vivo	15761153

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2117975	chr15:39865113 - 39865113(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
15q15.1-21.2	chr15:39800000-52600000	1 (0/0/1)
Chr 15	chr15:0-101991189	2 (0/2/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Reference	Description	Result Category
20713499	Suggestive association was found with SZ.	Trend

Gene relationship with MDD

Reference	Description	Category in MDD
20713499	No significant association was observed in MDD.	Negative

View in gBrowse

Region: chr15:39934146..40035591 View in gBrowse