1. Gene
  2. PLCG2 - phospholipase C gamma 2 Gene

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

PLCG2 Protein Structure

EF-hand_like

EF-hand_like: Phosphoinositide-specific phospholipase C, efhand-like (243 - 307)

PI-PLC-X

PI-PLC-X: Phosphatidylinositol-specific phospholipase C, X domain (314 - 457)

SH2

SH2: SH2 domain (532 - 617)

SH2

SH2: SH2 domain (646 - 720)

SH3_1

SH3_1: SH3 domain (775 - 821)

PI-PLC-Y

PI-PLC-Y: Phosphatidylinositol-specific phospholipase C, Y domain (929 - 1044)

C2

C2: C2 domain (1063 - 1151)

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  • 1265 a.a.
Protein Preferred Names Protein Names

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

phosphoinositide phospholipase C-gamma-2

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

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