PLCG2 - phospholipase C gamma 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5336

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	Verweise	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	Verweise	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	Verweise	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
1200
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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
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

PLCG2 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P84135	PLCG2 Antibody (YA3832)	WB, ICC/IF, FC, ELISA	Human
HY-P84135A	PLCG2 Antibody (YA3832)(PBS only)	WB, ICC/IF, FC, ELISA	Human

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

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS10661	PLCG2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19471	Plcg2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25964	Plcg2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	PLCG2	NCBI