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	PLCG2
Approved Name	phospholipase C, gamma 2 (phosphatidylinositol-specific)
Location	16q24.1
Position	chr16:81739097-81962693, 1
External Links	HGNC: 9066 Entrez Gene: 5336 Ensembl: ENSG00000197943 UCSC: uc002fgt.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
Ollila, H. M.,2009	SNP: rs1143685	It showed no evidence for association with BPI in our study.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 28)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0004871	signal transducer activity	molecular function	IEA	32
GO:0045087	innate immune response	biological process	TAS	49
GO:0005886	plasma membrane	cellular component	IDA[11606584]; TAS	360

GO terms by database search (count: 25)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0019722	calcium-mediated signaling	biological process	NAS[11043765]	9
GO:0038095	Fc-epsilon receptor signaling pathway	biological process	TAS	19
GO:0032496	response to lipopolysaccharide	biological process	IEA	22
GO:0030168	platelet activation	biological process	TAS	22
GO:0043647	inositol phosphate metabolic process	biological process	TAS	7
GO:0070062	extracellular vesicular exosome	cellular component	IDA[20458337]	176
GO:0032237	activation of store-operated calcium channel activity	biological process	IEA	1
GO:0002316	follicular B cell differentiation	biological process	IEA	1
GO:0016055	Wnt signaling pathway	biological process	TAS[18784435]	12
GO:0005515	protein binding	molecular function	IPI[15644415]	563
GO:0051209	release of sequestered calcium ion into cytosol	biological process	IDA[11606584]	7
GO:0004435	phosphatidylinositol phospholipase C activity	molecular function	IDA[11606584]; TAS	8
GO:0050852	T cell receptor signaling pathway	biological process	ISS	9
GO:0006661	phosphatidylinositol biosynthetic process	biological process	IDA[11606584]	13
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0050853	B cell receptor signaling pathway	biological process	ISS	4
GO:0005829	cytosol	cellular component	TAS	223
GO:0030183	B cell differentiation	biological process	ISS	5
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	biological process	TAS	9
GO:0010468	regulation of gene expression	biological process	IEA	6
GO:0043069	negative regulation of programmed cell death	biological process	IEA	2
GO:0009395	phospholipid catabolic process	biological process	IEA	3
GO:0007596	blood coagulation	biological process	TAS	44
GO:0004629	phospholipase C activity	molecular function	TAS	2
GO:0032959	inositol trisphosphate biosynthetic process	biological process	IEA	1

Gene related KEGG pathways (count: 13)

KEGG pathways by PBA (count: 4)

ID	Name	No. of Genes in BDgene
hsa00562	Inositol phosphate metabolism	11
hsa05214	Glioma	9
hsa04020	Calcium signaling pathway	53
hsa04070	Phosphatidylinositol signaling system	16

KEGG pathways by database search (count: 9)

ID	Name	No. of Genes in BDgene
hsa04370	VEGF signaling pathway	11
hsa04650	Natural killer cell mediated cytotoxicity	13
hsa05120	Epithelial cell signaling in Helicobacter pylori infection	11
hsa05110	Vibrio cholerae infection	9
hsa04012	ErbB signaling pathway	13
hsa04670	Leukocyte transendothelial migration	13
hsa04664	Fc epsilon RI signaling pathway	13
hsa04662	B cell receptor signaling pathway	8
hsa05223	Non-small cell lung cancer	8

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 28)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PLCG2	PRKD1	NO	in vivo	8885868
PLCG2	GAB1	NO	in vivo	11507676
PLCG2	NPM1	NO	in vivo	9819383
PLCG2	BLK	NO	in vivo	8395016
PLCG2	TEC	NO	in vitro	15184383
PLCG2	EPOR	NO	in vivo;yeast 2-hybrid	15953601 , 15644415
PLCG2	LAT2	NO	in vitro	12514734
PLCG2	LAT	NO	in vitro	10469124
PLCG2	FLT1	NO	in vitro;yeast 2-hybrid	9398617
PLCG2	HCK	NO	in vitro	12181444 , 7682059 , 15144186
PLCG2	BTK	NO	in vitro	11507089
PLCG2	SYK	NO	in vitro	12470302 , 12771181 , 10933389
PLCG2	CBLB	NO	in vitro	12093870
PLCG2	KDR	NO	in vivo	9398617
PLCG2	FCER1G	NO	in vivo	10469124
PLCG2	KHDRBS1	NO	in vitro;in vivo	10467411
PLCG2	LIME1	NO	in vivo	16249387
PLCG2	LCK	NO	in vitro	12181444 , 7682059 , 15144186
PLCG2	LYN	NO	in vitro	12181444 , 7682059 , 15144186
PLCG2	CD19	NO	in vivo	10706702 , 15187135
PLCG2	SH3BP2	NO	in vivo	11390470
PLCG2	SHC1	NO	in vivo	10623845
PLCG2	GAB2	NO	in vitro;in vivo	12135708
PLCG2	DAPP1	NO	in vitro;in vivo	10770799
PLCG2	JAK1	YES	in vivo	14978237
PLCG2	LCP2	NO	in vitro	10469124
PLCG2	JAK2	NO	in vivo	14978237
PLCG2	BLNK	NO	in vivo	11274146

Related other genetic factors

Gene related SNPs (count: 4)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1143685	chr16:81786163 - 81786163(1)	non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant	1(0/1/0)
rs4398100	chr16:81780739 - 81780739(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 2)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs4888174		chr16:81781457 - 81781457(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs4254322		chr16:81779948 - 81779948(1)	intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Malhotra[2011]_10	chr16:80019981-80399720 (NCBI Build 36 (hg18))	379740	16q23.2	deletion	De Novo

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 16	chr16:0-90338345	5 (1/3/1)
16q23.3	chr16:81600000-84100000	1 (0/0/1)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr16:81739097..81962693 View in gBrowse