PIK3CG(磷脂酰肌醇-4,5-二磷酸3-激酶催化亚基γ)属于PI3K(磷脂酰肌醇3-激酶)基因家族,该家族主要参与细胞信号传导,调控细胞增殖、存活、代谢和迁移等过程。PI3K家族分为I、II、III三类,PIK3CG属于I类PI3K的IB亚型,与免疫细胞功能密切相关。PIK3CG编码的蛋白是一种催化亚基,能够磷酸化磷脂酰肌醇-4,5-二磷酸(PIP2)生成磷脂酰肌醇-3,4,5-三磷酸(PIP3),从而激活下游信号通路如AKT和mTOR,影响细胞生长和免疫反应。PIK3CG主要在白细胞中表达,尤其在T细胞、B细胞、中性粒细胞和巨噬细胞中发挥关键作用,参与炎症反应和免疫调节。突变或异常表达可能导致免疫功能紊乱,如PIK3CG功能获得性突变可能引发过度炎症或自身免疫疾病,而功能缺失性突变则可能导致免疫缺陷或感染易感性增加。研究表明,PIK3CG与类风湿性关节炎、系统性红斑狼疮等自身免疫疾病以及某些癌症的发生发展相关。当PIK3CG过表达时,可能增强免疫细胞的活化和炎症反应,甚至促进肿瘤细胞的生存和转移;而降低表达则可能抑制免疫细胞功能,导致免疫应答减弱或抗肿瘤能力下降。PIK3CG抑制剂已被研究用于治疗炎症性疾病和癌症,但需注意平衡其免疫调节作用以避免副作用。PI3K基因家族的共性在于它们均参与调控细胞内的脂质信号分子,影响多种生理和病理过程,尤其在代谢和免疫中起核心作用。
This gene encodes a protein that belongs to the pi3/pi4-kinase family of proteins. The gene product is an enzyme that phosphorylates phosphoinositides on the 3-hydroxyl group of the inositol ring. It is an important modulator of extracellular signals, including those elicited by E-cadherin-mediated cell-cell adhesion, which plays an important role in maintenance of the structural and functional integrity of epithelia. In addition to its role in promoting assembly of adherens junctions, the protein is thought to play a pivotal role in the regulation of cytotoxicity in NK cells. The gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]
这个基因编码属于蛋白质的PI3 / PI4激酶家族的蛋白。的基因产物是磷酸的肌醇环的3-羟基磷酸肌醇的酶。它是细胞外的信号,包括由E-钙粘蛋白介导的细胞 - 细胞粘附,这在维护上皮的结构和功能完整性的起着重要的作用引起的重要调节剂。除了其在促进粘着结组件的作用,该蛋白质被认为发挥细胞毒性的中NK细胞的调节了关键作用。该基因位于先前在骨髓性白血病染色体鉴定7的共同缺失段。已发现了该基因编码相同的蛋白质几个抄本变形。 [由RefSeq的,2013年9月提供]
PIK3CG基因(以及对应的蛋白质)的细胞分布位置:
PIK3CG基因的本体(GO)信息:
名称 |
---|
562 Inositol phosphate metabolism [PATH:hsa00562] |
4014 Ras signaling pathway [PATH:hsa04014] |
4015 Rap1 signaling pathway [PATH:hsa04015] |
4012 ErbB signaling pathway [PATH:hsa04012] |
4370 VEGF signaling pathway [PATH:hsa04370] |
4630 Jak-STAT signaling pathway [PATH:hsa04630] |
4668 TNF signaling pathway [PATH:hsa04668] |
4066 HIF-1 signaling pathway [PATH:hsa04066] |
4068 FoxO signaling pathway [PATH:hsa04068] |
4070 Phosphatidylinositol signaling system [PATH:hsa04070] |
4071 Sphingolipid signaling pathway [PATH:hsa04071] |
4024 cAMP signaling pathway [PATH:hsa04024] |
4022 cGMP - PKG signaling pathway [PATH:hsa04022] |
4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
4152 AMPK signaling pathway [PATH:hsa04152] |
4150 mTOR signaling pathway [PATH:hsa04150] |
4810 Regulation of actin cytoskeleton [PATH:hsa04810] |
4210 Apoptosis [PATH:hsa04210] |
4510 Focal adhesion [PATH:hsa04510] |
4550 Signaling pathways regulating pluripotency of stem cells [PATH:hsa04550] |
4611 Platelet activation [PATH:hsa04611] |
4620 Toll-like receptor signaling pathway [PATH:hsa04620] |
4650 Natural killer cell mediated cytotoxicity [PATH:hsa04650] |
4660 T cell receptor signaling pathway [PATH:hsa04660] |
4662 B cell receptor signaling pathway [PATH:hsa04662] |
4664 Fc epsilon RI signaling pathway [PATH:hsa04664] |
4666 Fc gamma R-mediated phagocytosis [PATH:hsa04666] |
4670 Leukocyte transendothelial migration [PATH:hsa04670] |
4062 Chemokine signaling pathway [PATH:hsa04062] |
4910 Insulin signaling pathway [PATH:hsa04910] |
4915 Estrogen signaling pathway [PATH:hsa04915] |
4914 Progesterone-mediated oocyte maturation [PATH:hsa04914] |
4917 Prolactin signaling pathway [PATH:hsa04917] |
4921 Oxytocin signaling pathway [PATH:hsa04921] |
4919 Thyroid hormone signaling pathway [PATH:hsa04919] |
4261 Adrenergic signaling in cardiomyocytes [PATH:hsa04261] |
4973 Carbohydrate digestion and absorption [PATH:hsa04973] |
4960 Aldosterone-regulated sodium reabsorption [PATH:hsa04960] |
4725 Cholinergic synapse [PATH:hsa04725] |
4722 Neurotrophin signaling pathway [PATH:hsa04722] |
4750 Inflammatory mediator regulation of TRP channels [PATH:hsa04750] |
4380 Osteoclast differentiation [PATH:hsa04380] |
5200 Pathways in cancer [PATH:hsa05200] |
5230 Central carbon metabolism in cancer [PATH:hsa05230] |
5231 Choline metabolism in cancer [PATH:hsa05231] |
5205 Proteoglycans in cancer [PATH:hsa05205] |
5203 Viral carcinogenesis [PATH:hsa05203] |
5210 Colorectal cancer [PATH:hsa05210] |
5212 Pancreatic cancer [PATH:hsa05212] |
5214 Glioma [PATH:hsa05214] |
5221 Acute myeloid leukemia [PATH:hsa05221] |
5220 Chronic myeloid leukemia [PATH:hsa05220] |
5218 Melanoma [PATH:hsa05218] |
5211 Renal cell carcinoma [PATH:hsa05211] |
5215 Prostate cancer [PATH:hsa05215] |
5213 Endometrial cancer [PATH:hsa05213] |
5222 Small cell lung cancer [PATH:hsa05222] |
5223 Non-small cell lung cancer [PATH:hsa05223] |
4930 Type II diabetes mellitus [PATH:hsa04930] |
4932 Non-alcoholic fatty liver disease (NAFLD) [PATH:hsa04932] |
5100 Bacterial invasion of epithelial cells [PATH:hsa05100] |
5166 HTLV-I infection [PATH:hsa05166] |
5162 Measles [PATH:hsa05162] |
5164 Influenza A [PATH:hsa05164] |
5161 Hepatitis B [PATH:hsa05161] |
5160 Hepatitis C [PATH:hsa05160] |
5169 Epstein-Barr virus infection [PATH:hsa05169] |
5146 Amoebiasis [PATH:hsa05146] |
5145 Toxoplasmosis [PATH:hsa05145] |
5142 Chagas disease (American trypanosomiasis) [PATH:hsa05142] |
名称 |
---|
G beta:gamma signalling through PI3Kgamma |
G-protein beta:gamma signalling |
GPCR downstream signaling |
GPVI-mediated activation cascade |
Hemostasis |
Metabolism of lipids and lipoproteins |
Phospholipid metabolism |
PI Metabolism |
Platelet activation, signaling and aggregation |
Signaling by GPCR |
Synthesis of PIPs at the plasma membrane |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Fibrosis | 0.2 | 2 | 0 | CTD_human_RGD |
Diffuse Large B-Cell Lymphoma | 0.122714419 | 10 | 0 | BeFree_CTD_human |
Medulloblastoma | 0.122171535 | 8 | 0 | BeFree_CTD_human |
Heart failure | 0.121357209 | 6 | 0 | BeFree_CTD_human |
Autistic Disorder | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Peripheral Neuropathy | 0.12 | 1 | 0 | CTD_human |
Cardiomegaly | 0.12 | 1 | 0 | CTD_human |
Inflammation | 0.08 | 1 | 0 | RGD |
Malignant neoplasm of breast | 0.047426383 | 167 | 0 | BeFree_GAD |
Breast Carcinoma | 0.043973583 | 162 | 0 | BeFree |
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