ITGB3基因编码整合素β3亚基,是整合素家族的重要成员。整合素家族是一类跨膜受体蛋白,由α和β亚基组成异二聚体,主要介导细胞与细胞外基质(ECM)的黏附以及细胞间信号传导。ITGB3与αIIb(血小板)或αv(广泛表达)亚基结合,分别形成αIIbβ3(GPIIb/IIIa)和αvβ3受体。αIIbβ3在血小板活化中起关键作用,介导血小板聚集和血栓形成;而αvβ3参与血管生成、骨吸收和肿瘤转移等过程。ITGB3基因突变可导致Glanzmann血小板无力症,患者表现为出血倾向,因为血小板无法正常聚集。ITGB3多态性(如PlA1/A2)与心血管疾病风险相关。ITGB3过表达可能促进肿瘤细胞迁移、侵袭和血管生成,尤其在黑色素瘤、胶质母细胞瘤和乳腺癌中;而降低表达则可能抑制这些过程,但增加出血风险。ITGB3与多种疾病相关,包括动脉粥样硬化、骨质疏松和癌症转移。该基因属于整合素β亚基家族,成员具有共同的结构特征:胞外区含有金属离子依赖的黏附位点,跨膜区和较短的胞内尾部。整合素家族成员普遍参与细胞-ECM相互作用、细胞迁移、增殖和存活等基本生物学过程。
The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008]
的ITGB3蛋白质产物是整β链测试3整合素是一个α链和一个β链组成的积分细胞表面蛋白。一个给定的链条可能会导致不同的整合多个合作伙伴结合起来。整合素β3与血小板阿尔法防爆链一起找到。整是已知参与细胞粘附以及细胞表面介导的信号。 [由RefSeq的,2008年7月提供]
ITGB3基因(以及对应的蛋白质)的细胞分布位置:
ITGB3基因的本体(GO)信息:
名称 |
---|
4015 Rap1 signaling pathway [PATH:hsa04015] |
4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
4512 ECM-receptor interaction [PATH:hsa04512] |
4145 Phagosome [PATH:hsa04145] |
4810 Regulation of actin cytoskeleton [PATH:hsa04810] |
4510 Focal adhesion [PATH:hsa04510] |
4640 Hematopoietic cell lineage [PATH:hsa04640] |
4611 Platelet activation [PATH:hsa04611] |
4919 Thyroid hormone signaling pathway [PATH:hsa04919] |
4380 Osteoclast differentiation [PATH:hsa04380] |
5206 MicroRNAs in cancer [PATH:hsa05206] |
5205 Proteoglycans in cancer [PATH:hsa05205] |
5410 Hypertrophic cardiomyopathy (HCM) [PATH:hsa05410] |
5412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) [PATH:hsa05412] |
5414 Dilated cardiomyopathy (DCM) [PATH:hsa05414] |
名称 |
---|
Axon guidance |
Cell surface interactions at the vascular wall |
Developmental Biology |
ECM proteoglycans |
Elastic fibre formation |
Extracellular matrix organization |
GRB2:SOS provides linkage to MAPK signaling for Integrins |
Hemostasis |
Integrin alphaIIb beta3 signaling |
Integrin cell surface interactions |
L1CAM interactions |
Molecules associated with elastic fibres |
Non-integrin membrane-ECM interactions |
p130Cas linkage to MAPK signaling for integrins |
PECAM1 interactions |
Platelet activation, signaling and aggregation |
Platelet Aggregation (Plug Formation) |
Platelet degranulation |
Response to elevated platelet cytosolic Ca2+ |
Signal Transduction |
Signal transduction by L1 |
Signaling by VEGF |
Syndecan interactions |
VEGFA-VEGFR2 Pathway |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Thrombasthenia | 0.608217928 | 46 | 9 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT |
Myocardial Infarction | 0.39304913 | 44 | 1 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_RGD |
Glanzmann Thrombasthenia, Autosomal Dominant | 0.32 | 1 | 1 | CLINVAR_MGD_UNIPROT |
Cerebrovascular accident | 0.25330848 | 26 | 0 | BeFree_CTD_human_GAD_LHGDN_RGD |
Acute Coronary Syndrome | 0.140193776 | 9 | 0 | BeFree_CTD_human_GAD_LHGDN |
Autistic Disorder | 0.136816922 | 8 | 2 | BeFree_CTD_human_GAD_LHGDN |
Prostatic Neoplasms | 0.136346101 | 7 | 0 | CTD_human_LHGDN |
Thrombocytopenia | 0.130182764 | 5 | 0 | CTD_human_GAD_LHGDN |
Neonatal Alloimmune Thrombocytopenia | 0.125091382 | 3 | 0 | CTD_human_GAD_LHGDN |
Coronary Thrombosis | 0.124810009 | 11 | 0 | BeFree_CTD_human_GAD |
山东省济南市章丘区文博路2号 齐鲁师范学院 genelibs生信实验室
山东省济南市高新区舜华路750号大学科技园北区F座4单元2楼
电话: 0531-88819269
E-mail: product@genelibs.com
关注微信订阅号,实时查看信息,关注医学生物学动态。