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	PLCG1
Previous Symbol	PLC1
Symbol Alias	PLC148, PLC-II, PLCgamma1, NCKAP3
Approved Name	phospholipase C, gamma 1
Previous Name	phospholipase C, gamma 1 (formerly subtype 148)
Location	20q12-q13.1
Position	chr20:41136960-41196801, 1
External Links	HGNC: 9065 Entrez Gene: 5335 Ensembl: ENSG00000124181 UCSC: uc002xjo.1
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Ftouhi-Paquin, N.,2001	Other variant: PLCG1_exon26_C/T, PLCG1_exon31_G/T, PLCG1_exon9_A/G	No significant association was observed in BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 44)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005509	calcium ion binding	molecular function	IEA	50
GO:0005886	plasma membrane	cellular component	IDA[22454520]; TAS	360
GO:0045087	innate immune response	biological process	TAS	49
GO:0007411	axon guidance	biological process	TAS	60

GO terms by database search (count: 40)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043536	positive regulation of blood vessel endothelial cell migration	biological process	IDA[20011604]	2
GO:0004435	phosphatidylinositol phospholipase C activity	molecular function	IDA[2550068]; TAS	8
GO:0005911	cell-cell junction	cellular component	IEA	16
GO:0007165	signal transduction	biological process	NAS[7681365]; TAS	136
GO:0042995	cell projection	cellular component	IDA[22454520]	9
GO:0005168	neurotrophin TRKA receptor binding	molecular function	IPI[15488758]	2
GO:0019722	calcium-mediated signaling	biological process	IMP[22454520]	9
GO:0008180	COP9 signalosome	cellular component	IDA[22561606]	4
GO:0005829	cytosol	cellular component	IDA[2550068]; TAS	223
GO:0009395	phospholipid catabolic process	biological process	IEA	3
GO:0038095	Fc-epsilon receptor signaling pathway	biological process	TAS	19
GO:0001726	ruffle	cellular component	IDA[17229814]	10
GO:0035254	glutamate receptor binding	molecular function	IEA	4
GO:0001701	in utero embryonic development	biological process	IEA	17
GO:0007596	blood coagulation	biological process	TAS	44
GO:0048011	neurotrophin TRK receptor signaling pathway	biological process	TAS	33
GO:0005057	receptor signaling protein activity	molecular function	NAS[7681365]	7
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	biological process	TAS	9
GO:0045766	positive regulation of angiogenesis	biological process	IDA[20011604]	11
GO:0008543	fibroblast growth factor receptor signaling pathway	biological process	TAS	21
GO:0048010	vascular endothelial growth factor receptor signaling pathway	biological process	TAS	12
GO:0050900	leukocyte migration	biological process	TAS	9
GO:0004629	phospholipase C activity	molecular function	TAS	2
GO:0016032	viral process	biological process	IEA	26
GO:0051281	positive regulation of release of sequestered calcium ion into cytosol	biological process	IMP[22454520]	3
GO:0043647	inositol phosphate metabolic process	biological process	TAS	7
GO:0016477	cell migration	biological process	IMP[22454520]	17
GO:0007202	activation of phospholipase C activity	biological process	TAS	15
GO:0050852	T cell receptor signaling pathway	biological process	TAS	9
GO:0030971	receptor tyrosine kinase binding	molecular function	IEA	3
GO:0000186	activation of MAPKK activity	biological process	TAS	6
GO:0019901	protein kinase binding	molecular function	IPI[22454520]	29
GO:0019221	cytokine-mediated signaling pathway	biological process	TAS	23
GO:0030027	lamellipodium	cellular component	IDA[17229814]	9
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0005515	protein binding	molecular function	IPI[10811803]	563
GO:0007173	epidermal growth factor receptor signaling pathway	biological process	IMP[22454520]; TAS	22
GO:0010634	positive regulation of epithelial cell migration	biological process	IMP[17229814]	5
GO:0005737	cytoplasm	cellular component	IDA[15702972]	322
GO:0071364	cellular response to epidermal growth factor stimulus	biological process	IDA[17229814]; IMP[22454520]	3

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
hsa04660	T cell receptor signaling pathway	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
hsa05223	Non-small cell lung cancer	8

Gene related BioCarta pathways (count: 23)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 23)

ID	Name	No. of Genes in BDgene
Ccr5Pathway	Pertussis toxin-insensitive CCR5 Signaling in Macrophage	3
TPOPathway	TPO Signaling Pathway	4
ptdinsPathway	Phosphoinositides and their downstream targets.	6
ionPathway	Ion Channel and Phorbal Esters Signaling Pathway	1
epoPathway	EPO Signaling Pathway	2
trkaPathway	Trka Receptor Signaling Pathway	4
tcrPathway	T Cell Receptor Signaling Pathway	7
vipPathway	Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells	9
plcPathway	Phospholipase C Signaling Pathway	4
gpcrPathway	Signaling Pathway from G-Protein Families	7
cxcr4Pathway	CXCR4 Signaling Pathway	3
bcrPathway	BCR Signaling Pathway	4
egfPathway	EGF Signaling Pathway	5
erk5Pathway	Role of Erk5 in Neuronal Survival	5
fcer1Pathway	Fc Epsilon Receptor I Signaling in Mast Cells	5
pyk2Pathway	Links between Pyk2 and Map Kinases	2
ghPathway	Growth Hormone Signaling Pathway	4
biopeptidesPathway	Bioactive Peptide Induced Signaling Pathway	4
pdgfPathway	PDGF Signaling Pathway	5
vegfPathway	VEGF, Hypoxia, and Angiogenesis	4
calcineurinPathway	Effects of calcineurin in Keratinocyte Differentiation	3
ngfPathway	Nerve growth factor pathway (NGF)	5
cardiacegfPathway	Role of EGF Receptor Transactivation by GPCRs in Cardiac Hypertrophy	5

Gene related interactors from protein-protein interactions data in HPRD (count: 89)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PLCG1	ERBB2	YES	in vivo	1676673 , 1683701
PLCG1	NCK1	NO	in vivo	9314836
PLCG1	IRS2	NO	in vivo	9535722
PLCG1	PITPNA	NO	in vitro;in vivo	7761838
PLCG1	AXL	NO	in vitro;in vivo	9178760
PLCG1	SH3BP2	NO	in vivo	11390470
PLCG1	PKN2	NO	in vitro	8910519
PLCG1	GRIN2B	YES	in vitro;in vivo	9231720
PLCG1	PDGFRA	NO	in vitro;in vivo	7535778
PLCG1	DAPP1	NO	in vitro;in vivo	10770799
PLCG1	PECAM1	NO	in vitro	10350061
PLCG1	USO1	NO	in vitro;in vivo	12507498
PLCG1	TUB	NO	in vitro;in vivo	10455176
PLCG1	CD22	NO	in vitro	8627166
PLCG1	PDGFRB	YES	in vivo	8443409
PLCG1	NTRK3	YES	in vitro;in vivo	7657612
PLCG1	AGTR1	YES	in vivo	9516477
PLCG1	PTPN11	NO	in vitro	15563458
PLCG1	CD28	NO	in vivo	8386518
PLCG1	DGKZ	YES	in vitro;in vivo	12890670
PLCG1	PICALM	NO	in vitro	10926122
PLCG1	SRC	NO	in vitro;in vivo	7510703 , 8885868 , 8657103 , 1689310 , 7682059
PLCG1	RHOU	NO	in vitro	15556869
PLCG1	FGFR1	NO	in vitro;in vivo	12601080 , 1689310
PLCG1	DDR1	YES	in vitro;in vivo	10783152
PLCG1	SHC1	NO	in vitro;in vivo	10652211 , 8155326
PLCG1	TRPM7	NO	in vitro;yeast 2-hybrid	11941371
PLCG1	WAS	NO	in vitro	8892607
PLCG1	VIL1	NO	in vitro	12937273
PLCG1	FGFR4	NO	in vitro	7518429
PLCG1	SYK	NO	in vitro;in vivo	8885868 , 8657103 , 1689310 , 7682059 , 15144186
PLCG1	GAB1	NO	in vivo	8596638
PLCG1	INSR	NO	in vitro;in vivo	14568990
PLCG1	MST1R	YES	in vivo	8918464
PLCG1	GNB2L1	NO	in vitro;in vivo	8290562
PLCG1	BLNK	NO	in vitro;in vivo	9697839
PLCG1	ALK	NO	in vivo	9174053
PLCG1	GIT1	NO	in vitro;in vivo	14523024
PLCG1	FGFR2	YES	in vivo	7999363
PLCG1	FLT1	NO	in vivo	9299537 , 9398617 , 9600074 , 11312102
PLCG1	SYN1	NO	in vitro	10899172
PLCG1	EEF1A1	NO	in vitro;in vivo;yeast 2-hybrid	11886851
PLCG1	TEC	NO	in vitro	10823839
PLCG1	AGAP2	NO	in vitro;in vivo	11823862
PLCG1	SHB	NO	in vivo	12084069
PLCG1	LAT2	NO	in vitro;in vivo	12514734 , 14722116
PLCG1	PTPRJ	NO	in vitro	11259588
PLCG1	KIT	NO	in vivo	7536744
PLCG1	SOS1	NO	in vitro	10913276
PLCG1	RET	NO	in vitro;in vivo	8628282 , 16153436
PLCG1	TRPC3	NO	in vitro;yeast 2-hybrid	15744307 , 15766521
PLCG1	SNAP91	YES	in vitro;in vivo	11779129
PLCG1	LIFR	NO	in vivo	7512571
PLCG1	EPOR	NO	in vivo	15329338 , 15953601
PLCG1	NTRK1	NO	in vivo	1715690 , 8384556
PLCG1	LCK	NO	in vivo	1500851
PLCG1	PRKD1	NO	in vitro	8885868
PLCG1	CBL	NO	in vitro;in vivo	12061819 , 9712732 , 16467851 , 9234717
PLCG1	LCP2	NO	in vitro;in vivo	11390650 , 16467851
PLCG1	GRIN1	YES	in vitro	16767099
PLCG1	ABL1	NO	in vitro	1383690
PLCG1	GTF2H1	NO	in vitro	10467411
PLCG1	RHOA	NO	in vitro;in vivo	12071848
PLCG1	CTSS	NO	in vitro;in vivo	9164868
PLCG1	KHDRBS1	NO	in vitro;in vivo	9743338 , 7799925
PLCG1	PAK1	NO	in vitro;in vivo	12085993
PLCG1	BTK	NO	in vitro	15184383
PLCG1	GRB2	NO	in vitro;in vivo	9281317
PLCG1	SOS2	NO	in vivo;yeast 2-hybrid	10940929
PLCG1	SOCS7	NO	in vitro	9344857
PLCG1	SELE	NO	in vitro	12960351
PLCG1	VAV3	YES	in vitro;in vivo	11094073
PLCG1	TNK1	NO	in vitro	10873601
PLCG1	SH2D2A	NO	in vivo	10692392
PLCG1	PTK2	NO	in vitro;in vivo	8660853 , 10430888
PLCG1	DNM1	NO	in vitro;in vivo	15252117
PLCG1	ZAP70	NO	in vitro;in vivo	7629168
PLCG1	INPP5D	NO	in vivo	15953601
PLCG1	GRAP	NO	in vitro;in vivo	8995379
PLCG1	LYN	NO	in vitro;in vivo	10586033 , 8885868 , 8657103 , 1689310 , 7682059 , 15144186
PLCG1	KDR	NO	in vitro;in vivo	12598525
PLCG1	LAT	NO	in vitro;in vivo	9729044 , 11368773 , 16467851
PLCG1	DAB1	YES	in vitro	15062102
PLCG1	BAG3	NO	in vitro;in vivo	10980614
PLCG1	DOK1	NO	in vitro	11071635
PLCG1	PLD2	NO	in vitro;in vivo	12646582
PLCG1	MET	NO	in vitro	7513258 , 8662733
PLCG1	VAV1	NO	in vitro;in vivo	9891995 , 16467851
PLCG1	HCK	NO	in vitro;in vivo	10586033 , 8885868 , 8657103 , 1689310 , 7682059 , 15144186

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 3)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
PLCG1_exon26_C/T	point mutation	exon26	1 (0/1/0)
PLCG1_exon31_G/T	point mutation	exon31	1 (0/1/0)
PLCG1_exon9_A/G	point mutation	exon9	1 (0/1/0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 20	chr20:0-64444167	4 (0/3/1)
20p11-q13	chr20:17900000-64444167	1 (1/0/0)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 1)

Reference	ID in SZGene	Result Category
17893707	644	Negative

Gene relationship with MDD

View in gBrowse

Region: chr20:41136960..41196801 View in gBrowse