AKT2(也称为蛋白激酶Bβ)是AKT丝氨酸/苏氨酸激酶家族的重要成员,属于AGC激酶超家族。AKT家族包括AKT1、AKT2和AKT3三个亚型,它们在结构上高度相似,都含有PH结构域、激酶结构域和调控结构域,并通过PI3K信号通路被激活。AKT家族的主要功能是调控细胞存活、增殖、代谢和生长,尤其在胰岛素信号传导中发挥核心作用。AKT2在胰岛素敏感组织中(如肌肉、脂肪和肝脏)表达较高,主要负责调控葡萄糖代谢。它通过促进GLUT4转运到细胞膜上来增强葡萄糖摄取,并抑制糖异生,从而维持血糖平衡。AKT2的突变或功能异常与多种疾病密切相关,尤其是胰岛素抵抗和2型糖尿病。例如,AKT2的功能缺失突变会导致罕见的遗传性胰岛素抵抗综合征,表现为严重的高血糖和高胰岛素血症。此外,AKT2的异常激活与多种癌症(如乳腺癌、卵巢癌和胰腺癌)的发生发展有关,因为它能促进肿瘤细胞的存活和增殖。当AKT2过表达时,会增强细胞增殖和存活信号,可能导致肿瘤发生或加剧胰岛素抵抗;而AKT2表达降低则可能引起葡萄糖代谢紊乱,增加糖尿病风险。AKT2还与其他基因和通路相互作用,比如抑制FOXO转录因子、激活mTORC1,从而影响蛋白质合成和细胞生长。在癌症中,AKT2的过表达常伴随PTEN或PIK3CA的突变,进一步放大致癌信号。AKT家族成员的冗余功能使得单一亚型的缺失可能被其他亚型部分补偿,但AKT2在代谢调控中的独特作用使其成为糖尿病和癌症治疗的重要靶点。
This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains. The gene was shown to be amplified and overexpressed in 2 of 8 ovarian carcinoma cell lines and 2 of 15 primary ovarian tumors. Overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins. [provided by RefSeq, Jul 2008]
此基因是编码属于含有SH2结构状(Src同源2样)结构域的丝氨酸/苏氨酸激酶亚家族的蛋白质的推定的癌基因。该基因被示出被放大,并在2 8的卵巢癌细胞株和2 15的原发性卵巢肿瘤中过表达。过表达有助于人类胰腺导管癌的一个子集的恶性表型。所编码的蛋白质能够phophorylating几种已知的蛋白质的一般蛋白激酶。 [由RefSeq的,2008年7月提供]
AKT2基因(以及对应的蛋白质)的细胞分布位置:
AKT2基因的本体(GO)信息:
名称 |
---|
4014 Ras signaling pathway [PATH:hsa04014] |
4015 Rap1 signaling pathway [PATH:hsa04015] |
4010 MAPK signaling pathway [PATH:hsa04010] |
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] |
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] |
4210 Apoptosis [PATH:hsa04210] |
4510 Focal adhesion [PATH:hsa04510] |
4530 Tight junction [PATH:hsa04530] |
4550 Signaling pathways regulating pluripotency of stem cells [PATH:hsa04550] |
4611 Platelet activation [PATH:hsa04611] |
4620 Toll-like receptor signaling pathway [PATH:hsa04620] |
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] |
4062 Chemokine signaling pathway [PATH:hsa04062] |
4910 Insulin signaling pathway [PATH:hsa04910] |
4922 Glucagon signaling pathway [PATH:hsa04922] |
4920 Adipocytokine signaling pathway [PATH:hsa04920] |
4915 Estrogen signaling pathway [PATH:hsa04915] |
4914 Progesterone-mediated oocyte maturation [PATH:hsa04914] |
4917 Prolactin signaling pathway [PATH:hsa04917] |
4919 Thyroid hormone signaling pathway [PATH:hsa04919] |
4261 Adrenergic signaling in cardiomyocytes [PATH:hsa04261] |
4973 Carbohydrate digestion and absorption [PATH:hsa04973] |
4725 Cholinergic synapse [PATH:hsa04725] |
4728 Dopaminergic synapse [PATH:hsa04728] |
4722 Neurotrophin signaling pathway [PATH:hsa04722] |
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] |
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] |
4932 Non-alcoholic fatty liver disease (NAFLD) [PATH:hsa04932] |
5152 Tuberculosis [PATH:hsa05152] |
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] |
5145 Toxoplasmosis [PATH:hsa05145] |
5142 Chagas disease (American trypanosomiasis) [PATH:hsa05142] |
名称 |
---|
Activation of BAD and translocation to mitochondria |
Activation of BH3-only proteins |
Activation of PKB |
Adaptive Immune System |
AKT phosphorylates targets in the cytosol |
AKT phosphorylates targets in the nucleus |
AKT-mediated inactivation of FOXO1A |
Apoptosis |
CD28 co-stimulation |
CD28 dependent PI3K/Akt signaling |
Constitutive Signaling by AKT1 E17K in Cancer |
Costimulation by the CD28 family |
CTLA4 inhibitory signaling |
DAP12 interactions |
DAP12 signaling |
deactivation of the beta-catenin transactivating complex |
Developmental Biology |
Disease |
Diseases of signal transduction |
Downregulation of ERBB2:ERBB3 signaling |
Downstream signal transduction |
Downstream signaling events of B Cell Receptor (BCR) |
Downstream signaling of activated FGFR1 |
Downstream signaling of activated FGFR2 |
Downstream signaling of activated FGFR3 |
Downstream signaling of activated FGFR4 |
Fc epsilon receptor (FCERI) signaling |
G beta:gamma signalling through PI3Kgamma |
G-protein beta:gamma signalling |
GAB1 signalosome |
Gene Expression |
Generic Transcription Pathway |
GPCR downstream signaling |
GPVI-mediated activation cascade |
Hemostasis |
IGF1R signaling cascade |
Immune System |
Inhibition of HSL |
Inhibition of TSC complex formation by PKB |
Innate Immune System |
Insulin receptor signalling cascade |
Intrinsic Pathway for Apoptosis |
IRS-mediated signalling |
IRS-related events |
IRS-related events triggered by IGF1R |
Membrane Trafficking |
mTOR signalling |
Negative regulation of the PI3K/AKT network |
NGF signalling via TRKA from the plasma membrane |
PDE3B signalling |
PI-3K cascade:FGFR1 |
PI-3K cascade:FGFR2 |
PI-3K cascade:FGFR3 |
PI-3K cascade:FGFR4 |
PI3K Cascade |
PI3K events in ERBB2 signaling |
PI3K events in ERBB4 signaling |
PI3K/AKT activation |
PI3K/AKT Signaling in Cancer |
PIP3 activates AKT signaling |
PKB-mediated events |
Platelet activation, signaling and aggregation |
Programmed Cell Death |
Regulation of beta-cell development |
Regulation of gene expression in beta cells |
Role of LAT2/NTAL/LAB on calcium mobilization |
Signal Transduction |
Signaling by EGFR |
Signaling by ERBB2 |
Signaling by ERBB4 |
Signaling by FGFR |
Signaling by FGFR1 |
Signaling by FGFR2 |
Signaling by FGFR3 |
Signaling by FGFR4 |
Signaling by GPCR |
Signaling by Insulin receptor |
Signaling by PDGF |
Signaling by SCF-KIT |
Signaling by the B Cell Receptor (BCR) |
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) |
Signaling by VEGF |
Signaling by Wnt |
Signalling by NGF |
TCF dependent signaling in response to WNT |
TP53 Regulates Metabolic Genes |
Transcriptional Regulation by TP53 |
Translocation of GLUT4 to the plasma membrane |
VEGFA-VEGFR2 Pathway |
VEGFR2 mediated vascular permeability |
Vesicle-mediated transport |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Diabetes Mellitus, Non-Insulin-Dependent | 0.440814326 | 4 | 1 | BeFree_CLINVAR_CTD_human_MGD_UNIPROT |
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY | 0.24 | 1 | 0 | ORPHANET_UNIPROT |
Mammary Neoplasms | 0.1254487 | 3 | 0 | CTD_human_LHGDN |
Nasopharyngeal carcinoma | 0.12 | 1 | 0 | CTD_human |
Familial partial lipodystrophy | 0.12 | 1 | 0 | CTD_human |
Glioma | 0.087620235 | 9 | 0 | BeFree_LHGDN_RGD |
Liver carcinoma | 0.083810118 | 6 | 0 | BeFree_LHGDN_RGD |
Polycystic Ovary Syndrome | 0.083181358 | 3 | 0 | BeFree_GAD_MGD |
Obesity | 0.080271442 | 2 | 0 | BeFree_RGD |
Myocardial Reperfusion Injury | 0.08 | 1 | 0 | RGD |
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