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

PLCG2 - phospholipase C gamma 2 Gene

中文名称:磷脂酶 C γ 2

种属: Homo sapiens

同用名: FCAS3; APLAID; PLC-IV; PLC-gamma-2

基因 ID: 5336 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是一种跨膜信号酶,可催化 1-磷脂酰-1D-肌醇 4,5-二磷酸转化为 1D-肌醇 1,4,5-三磷酸 (IP3) 和甘油二酯 (DAG) ) 使用钙作为辅因子。 IP3 和 DAG 是第二信使分子,对于跨细胞膜传递来自生长因子受体和免疫系统受体的信号很重要。已在自身炎症、抗体缺乏、免疫失调综合征和家族性寒冷性自身炎症综合征 3 中发现该基因的突变。[RefSeq 提供,2014 年 3 月]

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 基因产物(1)

mRNA Protein Name
NM_002661.5 NP_002652.2 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables phosphatidylinositol phospholipase C activity IDA
IDA: 通过直接分析推断
11606584 GOA
enables phosphatidylinositol phospholipase C activity IMP
IMP: 通过突变表型推断
32514138 GOA
enables phosphotyrosine residue binding IPI
IPI: 通过物理相互作用推断
20624904 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15644415 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
11606584 GOA
enables protein tyrosine kinase binding IPI
IPI: 通过物理相互作用推断
32514138 GOA
enables scaffold protein binding IPI
IPI: 通过物理相互作用推断
11606584 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in B cell activation IDA
IDA: 通过直接分析推断
30107486 GOA
involved in B cell receptor signaling pathway IDA
IDA: 通过直接分析推断
15509800 GOA
involved in B cell receptor signaling pathway IMP
IMP: 通过突变表型推断
11606584 GOA
involved in calcium-mediated signaling IMP
IMP: 通过突变表型推断
11606584 GOA
involved in cellular response to calcium ion IMP
IMP: 通过突变表型推断
11606584 GOA
involved in cellular response to lipid IMP
IMP: 通过突变表型推断
32514138 GOA
involved in intracellular signal transduction IDA
IDA: 通过直接分析推断
11606584 GOA
involved in intracellular signal transduction IMP
IMP: 通过突变表型推断
32514138 GOA
involved in lipopolysaccharide-mediated signaling pathway IMP
IMP: 通过突变表型推断
32514138 GOA
involved in phosphatidylinositol biosynthetic process IDA
IDA: 通过直接分析推断
11606584 GOA
acts upstream of or within positive regulation of NLRP3 inflammasome complex assembly IMP
IMP: 通过突变表型推断
32514138 GOA
acts upstream of or within positive regulation of gene expression IMP
IMP: 通过突变表型推断
32514138 GOA
involved in positive regulation of neuroinflammatory response IMP
IMP: 通过突变表型推断
32514138 GOA
acts upstream of or within positive regulation of phagocytosis, engulfment IMP
IMP: 通过突变表型推断
32514138 GOA
acts upstream of regulation of lipid metabolic process IMP
IMP: 通过突变表型推断
32514138 GOA
involved in release of sequestered calcium ion into cytosol IDA
IDA: 通过直接分析推断
11606584 GOA
involved in response to axon injury IMP
IMP: 通过突变表型推断
32514138 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
11331309 GOA
located in intracellular vesicle IDA
IDA: 通过直接分析推断
11331309 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
23555801 GOA
is active in plasma membrane IDA
IDA: 通过直接分析推断
11331309 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
11606584 GOA
is active in ruffle membrane IDA
IDA: 通过直接分析推断
11331309 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PLCG2 蛋白结构

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)

  • 0
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  • 800
  • 1000
  • 1265 a.a.
蛋白主名 其他名称

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

phosphoinositide phospholipase C-gamma-2

PLCG2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
PLCG2 P16885 FSBP Homo sapiens O95073-2
Lumier
25814554
种属内
PLCG2 P16885 KIT Homo sapiens P10721
FPS
24728074
种属内
PLCG2 P16885 EGFR Homo sapiens P00533
PLA
25241761
种属内
PLCG2 P16885 PSMD3 Homo sapiens O43242
Lumier
25814554
种属内
PLCG2 P16885 PSMD3 Homo sapiens O43242
Y2H Array
25814554
种属内
PLCG2 P16885 SH2D1B Homo sapiens O14796
SPR
24642916
种属内
PLCG2 P16885 GAB1 Homo sapiens Q13480
FPS
24728074
种属内
PLCG2 P16885 AR Homo sapiens P10275
FPS
24728074
种属内
PLCG2 P16885 EPOR Homo sapiens P19235
MAPPIT
15644415
种属内
PLCG2 P16885 ERBB2 Homo sapiens P04626
Protein Array
16273093
种属内
PLCG2 P16885 SLC35A2 Homo sapiens P78381
Anti Tag CoIP
33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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