Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	PRKCE
Approved Name	protein kinase C, epsilon
Location	2p21
Position	chr2:45651345-46187990, 1
External Links	HGNC: 9401 Entrez Gene: 5581 Ensembl: ENSG00000171132 UCSC: uc002rut.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Graae, L.,2012	SNP: rs867286	No significant association was observed in BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 64)

GO terms by PBA (count: 7)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IDA[15632189]; TAS	360
GO:0005634	nucleus	cellular component	IEA	283
GO:0004697	protein kinase C activity	molecular function	IDA[18556656]	2
GO:0007155	cell adhesion	biological process	IEA	42
GO:0045087	innate immune response	biological process	TAS	49
GO:0004674	protein serine/threonine kinase activity	molecular function	IDA[15695813]	27
GO:0004871	signal transducer activity	molecular function	TAS[10438519]	32

GO terms by database search (count: 57)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0071361	cellular response to ethanol	biological process	IEA	2
GO:0070257	positive regulation of mucus secretion	biological process	IEA	1
GO:2000650	negative regulation of sodium ion transmembrane transporter activity	biological process	TAS[19193863]	2
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0002281	macrophage activation involved in immune response	biological process	IEA	1
GO:0005739	mitochondrion	cellular component	IEA	75
GO:0090303	positive regulation of wound healing	biological process	IMP[17603037]	2
GO:0032230	positive regulation of synaptic transmission, GABAergic	biological process	IEA	5
GO:0010763	positive regulation of fibroblast migration	biological process	ISS	1
GO:0061178	regulation of insulin secretion involved in cellular response to glucose stimulus	biological process	IEA	5
GO:0071889	14-3-3 protein binding	molecular function	IEA	7
GO:0007596	blood coagulation	biological process	TAS	44
GO:0051301	cell division	biological process	IEA	20
GO:0006468	protein phosphorylation	biological process	IDA[18556656]	42
GO:0010811	positive regulation of cell-substrate adhesion	biological process	IEA	3
GO:0032467	positive regulation of cytokinesis	biological process	IMP[18604201]	8
GO:0005783	endoplasmic reticulum	cellular component	IDA[18556656]	49
GO:0032024	positive regulation of insulin secretion	biological process	IEA	7
GO:0035276	ethanol binding	molecular function	IEA	1
GO:0071944	cell periphery	cellular component	ISS	1
GO:0019899	enzyme binding	molecular function	IDA[18556656]; IPI[15632189]	34
GO:0035669	TRAM-dependent toll-like receptor 4 signaling pathway	biological process	ISS	1
GO:0051209	release of sequestered calcium ion into cytosol	biological process	IEA	7
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	biological process	TAS	9
GO:2000273	positive regulation of receptor activity	biological process	IEA	2
GO:0006915	apoptotic process	biological process	TAS[10438519]	39
GO:0043410	positive regulation of MAPK cascade	biological process	IEA	13
GO:0010634	positive regulation of epithelial cell migration	biological process	IMP[17603037]	5
GO:0030546	receptor activator activity	molecular function	IEA	2
GO:0005829	cytosol	cellular component	IDA[17603037]; TAS	223
GO:0003785	actin monomer binding	molecular function	ISS	4
GO:0031663	lipopolysaccharide-mediated signaling pathway	biological process	ISS	6
GO:0030838	positive regulation of actin filament polymerization	biological process	ISS	6
GO:0005856	cytoskeleton	cellular component	IEA	30
GO:0005737	cytoplasm	cellular component	IDA[15632189]	322
GO:2001031	positive regulation of cellular glucuronidation	biological process	IMP[18556656]	1
GO:0048011	neurotrophin TRK receptor signaling pathway	biological process	TAS	33
GO:0018105	peptidyl-serine phosphorylation	biological process	IDA[15695813]	11
GO:0050996	positive regulation of lipid catabolic process	biological process	IEA	2
GO:0008543	fibroblast growth factor receptor signaling pathway	biological process	TAS	21
GO:0007202	activation of phospholipase C activity	biological process	TAS	15
GO:0071456	cellular response to hypoxia	biological process	IEA	13
GO:0008047	enzyme activator activity	molecular function	IMP[18556656]	3
GO:0030168	platelet activation	biological process	TAS	22
GO:0007165	signal transduction	biological process	TAS	136
GO:0035556	intracellular signal transduction	biological process	IEA	38
GO:0007049	cell cycle	biological process	IEA	6
GO:0005524	ATP binding	molecular function	IEA	118
GO:0005515	protein binding	molecular function	IPI[16810323]	563
GO:0005794	Golgi apparatus	cellular component	ISS	60
GO:0043278	response to morphine	biological process	IEA	9
GO:0004699	calcium-independent protein kinase C activity	molecular function	IEA	1
GO:0048471	perinuclear region of cytoplasm	cellular component	ISS	50
GO:0007173	epidermal growth factor receptor signaling pathway	biological process	TAS	22
GO:0050730	regulation of peptidyl-tyrosine phosphorylation	biological process	IEA	2
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	biological process	IEA	14
GO:0035641	locomotory exploration behavior	biological process	IEA	4

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04530	Tight junction	18

KEGG pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04664	Fc epsilon RI signaling pathway	13
hsa04930	Type II diabetes mellitus	11

Gene related BioCarta pathways (count: 4)

BioCarta pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
flumazenilPathway	Cardiac Protection Against ROS	6

BioCarta pathways by database search (count: 3)

ID	Name	No. of Genes in BDgene
akapCentrosomePathway	Protein Kinase A at the Centrosome	3
keratinocytePathway	Keratinocyte Differentiation	5
ptdinsPathway	Phosphoinositides and their downstream targets.	6

Gene related interactors from protein-protein interactions data in HPRD (count: 39)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PRKCE	BRAF	NO	in vivo	16810323
PRKCE	MAPK1	NO	in vivo	11350735
PRKCE	COPB1	NO	in vivo	11897493
PRKCE	SLC4A3	NO	in vitro	11739292
PRKCE	GNB2L1	NO	in vitro;in vivo	11956211 , 11709417
PRKCE	MAPK3	NO	in vivo	16461926 , 16810323
PRKCE	BTK	NO	in vitro;in vivo	11788586 , 7522330
PRKCE	GAD1	YES	in vitro;in vivo	15147202
PRKCE	TRPV1	NO	in vitro;in vivo	14523239 , 11884385
PRKCE	VDAC1	NO	in vitro;in vivo	12663490
PRKCE	CNN1	NO	in vivo	9312127
PRKCE	RPS6KB2	NO	in vivo	16810323
PRKCE	HK2	NO	in vitro;in vivo	12663490
PRKCE	AFAP1	NO	in vitro	12134071
PRKCE	KRT18	NO	in vitro	7523419 , 1374067 , 15368451
PRKCE	PECAM1	NO	in vitro	10801826
PRKCE	KRT1	NO	in vivo	11897493
PRKCE	PDPK1	NO	in vitro;in vivo	11062054 , 12640464 , 10945988
PRKCE	PPP1R14A	NO	in vitro;in vivo	15003508
PRKCE	ACTA1	NO	in vivo	8567732
PRKCE	PIK3CB	NO	in vivo	9822674
PRKCE	AKAP9	NO	in vitro;in vivo	10945988
PRKCE	MYH2	NO	in vivo	11897493
PRKCE	SLC25A4	YES	in vivo	12663490
PRKCE	GRIN2D	YES	in vivo	10862698
PRKCE	RAF1	NO	in vivo	11350735
PRKCE	SNCA	NO	in vivo	10407019
PRKCE	ITGB1	NO	in vitro	15949469
PRKCE	OPRD1	NO	in vitro;in vivo	11085981
PRKCE	PRKD1	NO	in vivo	10092595
PRKCE	GNA13	NO	in vitro	8824244
PRKCE	CFTR	NO	in vivo	11956211
PRKCE	GRIN1	YES	in vivo	10862698
PRKCE	ACTC1	NO	in vivo	11968018
PRKCE	GRM5	NO	in vitro	15894802
PRKCE	ADAP1	NO	in vitro	12893243
PRKCE	COPB2	NO	in vitro	9360998
PRKCE	TIAM1	NO	in vitro	10212259
PRKCE	SRC	NO	in vitro	11834516

Related other genetic factors

Gene related SNPs (count: 4)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs867286	chr2:45754891 - 45754891(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 3)

rs_ID	Location	Functional Annotation
rs4953246	chr2:45752971 - 45752971(1)	intron_variant; non_coding_transcript_variant
rs884401	chr2:45755469 - 45755469(1)	intron_variant; non_coding_transcript_variant
rs884399	chr2:45755786 - 45755786(1)	intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
2p21	chr2:41500000-47500000	1 (0/0/1)
Chr 2	chr2:0-242193529	3 (0/3/0)
2p22.2-p13.3	chr2:36300000-71300000	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr2:45651345..46187990 View in gBrowse