1. Gene
  2. PIK3C2B - phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta Gene

PIK3C2B - phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta Gene

中文名称:磷脂酰肌醇 4-磷酸 3-激酶催化亚基 2 型

种属: Homo sapiens

同用名: C2-PI3K

基因 ID: 5287 | 基因类型: protein coding

关于 PIK3C2B

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:204,422,633-204,494,805 (from NCBI)

This gene has 10 transcripts (splice variants), 207 orthologues and 9 paralogues. Ubiquitous expression in lymph node (RPKM 8.8), skin (RPKM 7.4) and 24 other tissues.

功能概要

该基因编码的蛋白质属于磷酸肌醇 3-激酶 (PI3K) 家族。 PI3-激酶在涉及细胞增殖、致癌转化、细胞存活、细胞迁移和细胞内蛋白质运输的信号通路中发挥作用。该蛋白质包含脂质激酶催化结构域以及 C 末端 C2 结构域,这是 II 类 PI3 激酶的特征。 C2 结构域充当钙依赖性磷脂结合基序,介导蛋白质向膜的易位,并且还可以介导蛋白质-蛋白质相互作用。这种蛋白质的 PI3 激酶活性对低纳摩尔水平的抑制剂 wortmanin 很敏感。该蛋白的 C2 结构域显示可结合磷脂但不结合 Ca2+,这表明该酶可能以钙非依赖性方式发挥作用。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind Phospholipids but not Ca2+, which suggests that this Enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]

PIK3C2B 基因产物(3)

mRNA Protein Name
NM_001377334.1 NP_001364263.1 phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta isoform 1
NM_001377335.1 NP_001364264.1 phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta isoform 2
NM_002646.4 NP_002637.3 phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta isoform 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 1-phosphatidylinositol-3-kinase activity IDA
IDA: 通过直接分析推断
9830063 GOA
enables 1-phosphatidylinositol-4-phosphate 3-kinase activity IDA
IDA: 通过直接分析推断
9830063 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10805725 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
9830063 GOA
located in intracellular membrane-bounded organelle IDA
IDA: 通过直接分析推断
9830063 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
9830063 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

PIK3C2B 蛋白结构

PI3K_rbd

PI3K_rbd: PI3-kinase family, ras-binding domain (365 - 465)

PI3K_C2

PI3K_C2: Phosphoinositide 3-kinase C2 (649 - 787)

PI3Ka

PI3Ka: Phosphoinositide 3-kinase family, accessory domain (PIK domain) (812 - 988)

PI3_PI4_kinase

PI3_PI4_kinase: Phosphatidylinositol 3- and 4-kinase (1078 - 1290)

PX

PX: PX domain (1367 - 1476)

C2

C2: C2 domain (1520 - 1607)

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  • 1634 a.a.
蛋白主名 其他名称

phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta

PI3K-C2-beta

PI3K-C2beta

PTDINS-3-kinase C2 beta

phosphatidylinositol 3-kinase C2 domain-containing beta polypeptide

phosphoinositide 3-kinase-C2-beta

phosphoinositide-3-kinase, class 2, beta polypeptide

ptdIns-3-kinase C2 subunit beta

关联疾病

疾病名称 别名
Peliosis Hepatis

Hepatic Peliosis

Telangiectasis Of Liver

Angiomatosis Of Liver

Ph - [Peliosis Hepatis]

Hepatic Angiomatosis

Centronuclear Myopathy

Myopathy, Centronuclear

Myotubular Myopathy

Cnm

Myopathy, Myotubular

Congenital Structural Myopathy

Myopathy, Centronuclear, X-Linked

X-Linked Myotubular Myopathy

Xlmtm

X-Linked Centronuclear Myopathy

Xlcnm

CNMX

Mtm1

Myotubular Myopathy, X-Linked

Mtmx

Myotubular Myopathy 1

Centronuclear Myopathy X-Linked

Myotubular Myopathy

Mtm

Cnm

Xmtm

Myotubular Myopathy Type 1

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
Felis catus PIK3C2B VGNC VGNC:68851
Canis familiaris PIK3C2B VGNC VGNC:44552
Macaca mulatta PIK3C2B VGNC VGNC:100035
Bos taurus PIK3C2B VGNC VGNC:32886
Rattus norvegicus PIK3C2B RGD RGD:1306541
Mus musculus PIK3C2B MGD MGI:2685045
Others PIK3C2B NCBI