1. Gene
  2. PIK3C2G - phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma Gene

PIK3C2G - phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma Gene

中文名称:磷脂酰肌醇 4-磷酸 3-激酶催化亚基 2 型 γ

种属: Homo sapiens

同用名: PI3K-C2GAMMA; PI3K-C2-gamma

基因 ID: 5288 | 基因类型: protein coding

关于 PIK3C2G

Cytogenetic location: 12p12.3 Genomic coordinates (GRCh38): 12:18,242,961-18,726,817 (from NCBI)

This gene has 8 transcripts (splice variants), 183 orthologues and 9 paralogues. Biased expression in stomach (RPKM 3.1), skin (RPKM 2.0) and 7 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。该基因可能在多种疾病中发挥作用,包括 II 型糖尿病。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 1 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. This gene may play a role in several diseases, including type II diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

PIK3C2G 基因产物(17)

mRNA Protein Name
XM_047429006.1 XP_047284962.1 phosphatidylinositol 3-kinase C2 domain-containing subunit gamma isoform X2
XM_011520697.3 XP_011518999.1 phosphatidylinositol 3-kinase C2 domain-containing subunit gamma isoform X6
XM_017019471.2 XP_016874960.1 phosphatidylinositol 3-kinase C2 domain-containing subunit gamma isoform X1
NM_001288772.2 NP_001275701.1 phosphatidylinositol 3-kinase C2 domain-containing subunit gamma isoform 1
NM_004570.6 NP_004561.3 phosphatidylinositol 3-kinase C2 domain-containing subunit gamma isoform 3
XM_011520701.3 XP_011519003.1 phosphatidylinositol 3-kinase C2 domain-containing subunit gamma isoform X9
XR_931307.3
XM_017019478.3 XP_016874967.1 phosphatidylinositol 3-kinase C2 domain-containing subunit gamma isoform X10
NM_001288774.2 NP_001275703.1 phosphatidylinositol 3-kinase C2 domain-containing subunit gamma isoform 2
XM_017019473.3 XP_016874962.1 phosphatidylinositol 3-kinase C2 domain-containing subunit gamma isoform X1
XM_047429009.1 XP_047284965.1 phosphatidylinositol 3-kinase C2 domain-containing subunit gamma isoform X5
XM_047429010.1 XP_047284966.1 phosphatidylinositol 3-kinase C2 domain-containing subunit gamma isoform X8
XM_047429005.1 XP_047284961.1 phosphatidylinositol 3-kinase C2 domain-containing subunit gamma isoform X2
XM_017019475.2 XP_016874964.1 phosphatidylinositol 3-kinase C2 domain-containing subunit gamma isoform X7
XM_017019479.2 XP_016874968.1 phosphatidylinositol 3-kinase C2 domain-containing subunit gamma isoform X11
XM_047429008.1 XP_047284964.1 phosphatidylinositol 3-kinase C2 domain-containing subunit gamma isoform X4
XM_047429007.1 XP_047284963.1 phosphatidylinositol 3-kinase C2 domain-containing subunit gamma isoform X3
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in modulation by host of viral process IMP
IMP: 通过突变表型推断
19376974 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

PIK3C2G 蛋白结构

PI3K_rbd

PI3K_rbd: PI3-kinase family, ras-binding domain (282 - 364)

PI3K_C2

PI3K_C2: Phosphoinositide 3-kinase C2 (510 - 629)

PI3Ka

PI3Ka: Phosphoinositide 3-kinase family, accessory domain (PIK domain) (663 - 814)

PI3_PI4_kinase

PI3_PI4_kinase: Phosphatidylinositol 3- and 4-kinase (917 - 1128)

PX

PX: PX domain (1206 - 1305)

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  • 1445 a.a.
蛋白主名 其他名称

phosphatidylinositol 3-kinase C2 domain-containing subunit gamma

PTDINS-3-kinase C2 gamma

phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing gamma polypeptide

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

phosphoinositide-3-kinase, class 2, gamma polypeptide

关联疾病

疾病名称 别名
Viral Labyrinthitis

Epidemic Vertigo

Vestibular Neuronitis

Esophageal Atresia

Tracheoesophageal Fistula

Congenital Atresia Of Esophagus

Congenital Imperforate Esophagus

Imperforate Esophagus

Oesophageal Atresia

Te Fistula

Tef

Tracheoesophageal Fistula With Or Without Esophageal Atresia

Spermatogenic Failure 17

SPGF17

Male Infertility Due To Oocyte Activation Failure

Spermatogenic Failure, Type 17

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
Macaca mulatta PIK3C2G VGNC VGNC:75993
Felis catus PIK3C2G VGNC VGNC:68852
Bos taurus PIK3C2G VGNC VGNC:32887
Mus musculus PIK3C2G MGD MGI:1203730
Canis familiaris PIK3C2G VGNC VGNC:44553
Rattus norvegicus PIK3C2G RGD RGD:620231
Others PIK3C2G NCBI