1. Gene
  2. PLCB2 - phospholipase C beta 2 Gene

PLCB2 - phospholipase C beta 2 Gene

中文名称:磷脂酶 C β 2

种属: Homo sapiens

同用名: PLC-beta-2

基因 ID: 5330 | 基因类型: protein coding

关于 PLCB2

Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:40,284,256-40,307,935 (from NCBI)

This gene has 15 transcripts (splice variants), 219 orthologues and 14 paralogues. Broad expression in spleen (RPKM 26.9), bone marrow (RPKM 19.8) and 17 other tissues.

功能概要

该基因编码的蛋白质是一种磷酸二酯酶,可催化磷脂酰肌醇 4,5-二磷酸水解为第二信使肌醇 1,4,5-三磷酸 (IP3) 和甘油二酯。编码的蛋白质被 G 蛋白激活,并已被证明参与 2 型味觉受体信号转导途径。此外,核因子 kappa B 可以调节该基因的转录,其蛋白产物也是血小板反应的重要调节因子。[RefSeq 提供,2017 年 1 月]

The protein encoded by this gene is a phosphodiesterase that catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate to the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol. The encoded protein is activated by G proteins and has been shown to be involved in the type 2 Taste Receptor signal transduction pathway. In addition, nuclear factor kappa B can regulate the transcription of this gene, whose protein product is also an important regulator of platelet responses. [provided by RefSeq, Jan 2017]

PLCB2 基因产物(4)

mRNA Protein Name
NM_001284297.2 NP_001271226.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform 2
NM_001284298.2 NP_001271227.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform 3
NM_001284299.2 NP_001271228.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform 4
NM_004573.3 NP_004564.2 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform 1
基因本体论
  • 分子功能
  • 生物过程
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
9188725 GOA
enables phosphatidylinositol phospholipase C activity IMP
IMP: 通过突变表型推断
8519600 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21115837 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in phosphatidylinositol metabolic process IDA
IDA: 通过直接分析推断
9188725 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

PLCB2 蛋白结构

EF-hand_like

EF-hand_like: Phosphoinositide-specific phospholipase C, efhand-like (220 - 310)

PI-PLC-X

PI-PLC-X: Phosphatidylinositol-specific phospholipase C, X domain (314 - 464)

PI-PLC-Y

PI-PLC-Y: Phosphatidylinositol-specific phospholipase C, Y domain (545 - 662)

C2

C2: C2 domain (684 - 761)

PLC-beta_C

PLC-beta_C: PLC-beta C terminal (979 - 1155)

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  • 1185 a.a.
蛋白主名 其他名称

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

phosphoinositide phospholipase C-beta-2

关联疾病

疾病名称 别名
Prostate Leiomyosarcoma

Leiomyosarcoma Of The Prostate

Night Blindness, Congenital Stationary, Type 1h

Congenital Stationary Night Blindness 1h

CSNB1H

Congenital Stationary Night Blindness Type 1h

Night Blindness, Congenital Stationary, 1h

Neurogenic Bowel
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
Mus musculus PLCB2 MGD MGI:107465
Rattus norvegicus PLCB2 RGD RGD:621004
Canis familiaris PLCB2 VGNC VGNC:44645
Bos taurus PLCB2 VGNC VGNC:32981
Macaca mulatta PLCB2 VGNC VGNC:76164
Felis catus PLCB2 VGNC VGNC:80881