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
trkaPathway	Trka Receptor Signaling Pathway	4
pdgfPathway	PDGF Signaling Pathway	5
bcrPathway	BCR Signaling Pathway	4
ptdinsPathway	Phosphoinositides and their downstream targets.	6
vegfPathway	VEGF, Hypoxia, and Angiogenesis	4
tcrPathway	T Cell Receptor Signaling Pathway	7
biopeptidesPathway	Bioactive Peptide Induced Signaling Pathway	4
fcer1Pathway	Fc Epsilon Receptor I Signaling in Mast Cells	5
cxcr4Pathway	CXCR4 Signaling Pathway	3
Ccr5Pathway	Pertussis toxin-insensitive CCR5 Signaling in Macrophage	3
ngfPathway	Nerve growth factor pathway (NGF)	5
gpcrPathway	Signaling Pathway from G-Protein Families	7
plcPathway	Phospholipase C Signaling Pathway	4
ionPathway	Ion Channel and Phorbal Esters Signaling Pathway	1
erk5Pathway	Role of Erk5 in Neuronal Survival	5
cardiacegfPathway	Role of EGF Receptor Transactivation by GPCRs in Cardiac Hypertrophy	5
egfPathway	EGF Signaling Pathway	5
ghPathway	Growth Hormone Signaling Pathway	4
pyk2Pathway	Links between Pyk2 and Map Kinases	2
vipPathway	Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells	9
calcineurinPathway	Effects of calcineurin in Keratinocyte Differentiation	3
TPOPathway	TPO Signaling Pathway	4
epoPathway	EPO Signaling Pathway	2

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

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

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