PLCG2 - phospholipase C gamma 2 Gene

Homo sapiens

Also known as FCAS3; APLAID; PLC-IV; PLC-gamma-2

Gene ID: 5336 | Gene type: protein coding

About PLCG2

Cytogenetic location: 16q23.3 Genomic coordinates (GRCh38): 16:81,779,291-81,962,685 (from NCBI)

This gene has 27 transcripts (splice variants), 225 orthologues, 14 paralogues and is associated with 6 phenotypes. Broad expression in lymph node (RPKM 20.0), spleen (RPKM 12.3) and 21 other tissues.

Summary

The protein encoded by this gene is a transmembrane signaling Enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]

PLCG2 Products(1)

mRNA	Protein	Name
NM_002661.5	NP_002652.2	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables phosphatidylinositol phospholipase C activity	IDA IDA: Inferred from direct assay	11606584	GOA
enables phosphatidylinositol phospholipase C activity	IMP IMP: Inferred from mutant phenotype	32514138	GOA
enables phosphotyrosine residue binding	IPI IPI: Inferred from physical interaction	20624904	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15644415	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	11606584	GOA
enables protein tyrosine kinase binding	IPI IPI: Inferred from physical interaction	32514138	GOA
enables scaffold protein binding	IPI IPI: Inferred from physical interaction	11606584	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in B cell activation	IDA IDA: Inferred from direct assay	30107486	GOA
involved in B cell receptor signaling pathway	IDA IDA: Inferred from direct assay	15509800	GOA
involved in B cell receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	11606584	GOA
involved in calcium-mediated signaling	IMP IMP: Inferred from mutant phenotype	11606584	GOA
involved in cellular response to calcium ion	IMP IMP: Inferred from mutant phenotype	11606584	GOA
involved in cellular response to lipid	IMP IMP: Inferred from mutant phenotype	32514138	GOA
involved in intracellular signal transduction	IDA IDA: Inferred from direct assay	11606584	GOA
involved in intracellular signal transduction	IMP IMP: Inferred from mutant phenotype	32514138	GOA
involved in lipopolysaccharide-mediated signaling pathway	IMP IMP: Inferred from mutant phenotype	32514138	GOA
involved in phosphatidylinositol biosynthetic process	IDA IDA: Inferred from direct assay	11606584	GOA
acts upstream of or within positive regulation of NLRP3 inflammasome complex assembly	IMP IMP: Inferred from mutant phenotype	32514138	GOA
acts upstream of or within positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	32514138	GOA
involved in positive regulation of neuroinflammatory response	IMP IMP: Inferred from mutant phenotype	32514138	GOA
acts upstream of or within positive regulation of phagocytosis, engulfment	IMP IMP: Inferred from mutant phenotype	32514138	GOA
acts upstream of regulation of lipid metabolic process	IMP IMP: Inferred from mutant phenotype	32514138	GOA
involved in release of sequestered calcium ion into cytosol	IDA IDA: Inferred from direct assay	11606584	GOA
involved in response to axon injury	IMP IMP: Inferred from mutant phenotype	32514138	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	11331309	GOA
located in intracellular vesicle	IDA IDA: Inferred from direct assay	11331309	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	23555801	GOA
is active in plasma membrane	IDA IDA: Inferred from direct assay	11331309	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	11606584	GOA
is active in ruffle membrane	IDA IDA: Inferred from direct assay	11331309	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PLCG2 Protein Structure

EF-hand_like

PI-PLC-X

SH2

SH3_1

PI-PLC-Y

0
200
400
600
800
1000
1265 a.a.

Protein Preferred Names

Protein Names

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2

phosphoinositide phospholipase C-gamma-2

PLCG2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PLCG2	P16885	FSBP	Homo sapiens	O95073-2	Lumier	25814554
Intra	PLCG2	P16885	KIT	Homo sapiens	P10721	FPS	24728074
Intra	PLCG2	P16885	EGFR	Homo sapiens	P00533	PLA	25241761
Intra	PLCG2	P16885	PSMD3	Homo sapiens	O43242	Lumier	25814554
Intra	PLCG2	P16885	PSMD3	Homo sapiens	O43242	Y2H Array	25814554
Intra	PLCG2	P16885	SH2D1B	Homo sapiens	O14796	SPR	24642916
Intra	PLCG2	P16885	GAB1	Homo sapiens	Q13480	FPS	24728074
Intra	PLCG2	P16885	AR	Homo sapiens	P10275	FPS	24728074
Intra	PLCG2	P16885	EPOR	Homo sapiens	P19235	MAPPIT	15644415
Intra	PLCG2	P16885	ERBB2	Homo sapiens	P04626	Protein Array	16273093
Intra	PLCG2	P16885	SLC35A2	Homo sapiens	P78381	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Autoinflammation, Antibody Deficiency, And Immune Dysregulation

APLAID	Autoinflammation-Plcg2-Associated Antibody Deficiency-Immune Dysregulation
Autoinflammation, Antibody Deficiency, And Immune Dysregulation, Plcg2-Associated	Autoinflammation, Antibody Deficiency, And Immune Dysregulation Syndrome

Familial Cold Autoinflammatory Syndrome 3

Plaid	Familial Atypical Cold Urticaria
Facu	FCAS3
Antibody Deficiency And Immune Dysregulation, Plcg2-Associated	Plcg2-Associated Antibody Deficiency And Immune Dysregulation
Familial Cold Urticaria With Common Variable Immunodeficiency	Plcg2 Associated Antibody Deficiency And Immune Dysregulation
Antibody Deficiency And Immune Dysregulation Placg2-Associated	Autoinflammatory Syndrome, Cold, Familial, Type 3

Familial Cold Autoinflammatory Syndrome

Familial Cold Urticaria	Fcas
Familial Polymorphous Cold Eruption	Fcu
Cold Hypersensitivity

Urticaria

Nettle Rash	Hives
Wheal	Urticaria Nos

Agammaglobulinemia, X-Linked

X-Linked Agammaglobulinemia	XLA
Bruton Type Agammaglobulinemia	Bruton'S Agammaglobulinemia
Bruton-Type Agammaglobulinemia	Agmx1
Imd1	Agammaglobulinemia, X-Linked 1
Btk-Deficiency	Agammaglobulinemia
Hypogammaglobulinemia	Agammaglobulinemia, X-Linked, Type 1
Immunodeficiency 1	Bruton Agammaglobulinemia Tyrosine Kinase Deficiency
Bruton Disease	Bruton'S Agammaglobulinaemia
Bruton'S Sex-Linked Agammaglobulinemia	Bruton'S Type Agammaglobulinemia
Btk Deficiency	Agammaglobulinemia, Btk
Agammaglobulinemia, Bruton Tyrosine Kinase	Congenital Agammaglobulinemia
Immunodeficiency Type 1	X-Linked Agammaglobulinemia Type 1

Leukemia, Chronic Lymphocytic

Chronic Lymphocytic Leukemia	B-Cell Chronic Lymphocytic Leukemia
CLL	B-Cell Chronic Lymphoid Leukemia
Chronic Lymphatic Leukemia	Chronic Lymphocytic Leukaemia
Lymphoplasmacytic Leukemia	Small Lymphocytic Lymphoma
Leukemia, Chronic Lymphatic	B-Cell Chronic Lymphocytic Leukaemia
Chronic Lymphatic Leukaemia	Lymphoplasmacytic Leukaemia
B Cell Chronic Lymphocytic Leukemia	Chronic B-Cell Lymphocytic Leukemia
Leukemia, Lymphocytic, Chronic	B-Cll
Chronic Lymphoid Leukemia	Leukemia Lymphocytic Chronic
Lymphoma Small Lymphocytic	Leukemia, Lymphocytic, Chronic, B-Cell

Pyoderma

Gray Platelet Syndrome

Platelet Alpha-Granule Deficiency	GPS
Bdplt4	Bleeding Disorder, Platelet-Type, 4
Grey Platelet Syndrome	Platelet-Type Bleeding Disorder 4
Marked Decrease Or Absence Of Alpha-Granules And Of Platelet-Specific Alpha-Granule Proteins	Deficient Alpha Granule Syndrome
Platelet Alpha Granule Deficiency	Platelet Granule Defect
Alpha Storage Pool Deficiency	Bleeding Disorder Platelet-Type 4

Bleeding Disorder, Platelet-Type, 11

BDPLT11	Glycoprotein Vi Deficiency
Gp Vi Deficiency	Platelet-Type Bleeding Disorder 11
Bleeding Diathesis Due To A Collagen Receptor Defect	Bleeding Diathesis Due To Glycoprotein Vi Deficiency
Platelet-Type Bleeding Disorder-11	Bleeding Disorder, Platelet Type 11
Hemorrhage

B-Cell Lymphoma

Lymphoma, B-Cell	B-Cell Lymphomas
B-Cell Lymphocytic Neoplasm	Lymphoma B-Cell
B-Cell Lymphoma Nos

B Cell Deficiency

Immunoglobulin Heavy Chain Deficiency	B Cell Deficiencies
Immunoglobulin Heavy Chain Deletion	Humoral Immune Defect

Diffuse Large B-Cell Lymphoma Activated B-Cell Type

Dlbcl Abc Type

Frontotemporal Dementia

Pallidopontonigral Degeneration	Frontotemporal Lobar Degeneration
Semantic Dementia	FTD
Frontotemporal Lobe Dementia	Multiple System Tauopathy With Presenile Dementia
Dementia, Frontotemporal	Frontotemporal Dementia With Parkinsonism
Mstd	Frontotemporal Lobar Degeneration With Tau Inclusions
Ftld With Tau Inclusions	Dementia, Frontotemporal, With Parkinsonism
Fldem	Ftdp17
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex	Ddpac
Wilhelmsen-Lynch Disease	Wld
Ppnd	Dementia, Frontotemporal, With Or Without Parkinsonism
Semantic Primary Progressive Aphasia	Semantic Variant Ppa
Wilhemsen-Lynch Disease	Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17	Ftd-Als
Ftld	Pick Complex
Pick Disease Of The Brain	Frontotemporal Dementia With Parkinsonism-17
Grn-Related Frontotemporal Dementia	Frontotemporal Dementia With Motor Neuron Disease
Dementia In Fronto-Temporal Lobar Degeneration	Ftd - [Frontotemporal Dementia]
Temple Dementia	Frontal Lobe Dementia

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma

Cll/Sll	B-Cell Lymphocytic Leukemia/Small Lymphocytic Lymphoma
Icdo:9823/3	Chronic Lymphocytic Leukaemia Of B-Cell Type Without Mention Of Remission
Small Cell B-Cell Lymphoma

Lymphoplasmacytic Lymphoma

Waldenstrom Macroglobulinemia	Malignant Lymphoma - Lymphoplasmacytic
Waldenström Macroglobulinaemia	Waldenström Macroglobulinaemia Without Mention Of Remission
Idiopathic Macroglobulinaemia	Primary Macroglobulinaemia

Waldenstroem'S Macroglobulinemia

Waldenstrom Macroglobulinemia	Macroglobulinemia Of Waldenstrom
Waldenström Macroglobulinemia	Lymphoplasmacytic Lymphoma With Igm Gammopathy
Lymphoplasmacytic Lymphoma	Waldenstrom'S Macroglobulinaemia
Waldenstrom'S Syndrome	Waldenstrom'S Macroglobulinemia
Wm	Waldenström'S Macroglobulinemia
Malignant Lymphoma - Lymphoplasmacytic

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

Mantle Cell Lymphoma

Lymphoma, Mantle Cell	Lcm
Mcl	Mantle Zone Lymphoma
Lymphoma Mantle-Cell	Lymphoma, Mantle-Cell
Malignant Lymphoma, Lymphocytic, Intermediate Differentiation, Diffuse	Malignant Lymphoma - Lymphocytic, Intermediate Differentiation
Diffuse Small Cleaved-Cell Lymphoma	Diffuse Small Cleaved Cell Malignant Lymphoma
Small Cleaved Cell Non-Hodgkin Lymphoma	Diffuse Non-Hodgkin Small Cleaved Cell Lymphoma
Malignant Lymphomatous Polyposis	Malignant Small Cell, Noncleaved, Diffuse Lymphoma
Malignant Undifferentiated Cell, Non-Burkitt Lymphoma	Cleaved Cell Lymphoma
Small Cell Mantle Cell Lymphoma	Small Cleaved Cell Malignant Lymphoma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10661	PLCG2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PLCG2	RGD	RGD:3348
Felis catus	PLCG2	VGNC	VGNC:68900
Bos taurus	PLCG2	VGNC	VGNC:32989
Canis familiaris	PLCG2	VGNC	VGNC:44652
Mus musculus	PLCG2	MGD	MGI:97616
Macaca mulatta	PLCG2	VGNC	VGNC:76170

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