ADORA2A(腺苷A2A受体基因)编码腺苷A2A受体,属于G蛋白偶联受体(GPCR)家族中的腺苷受体亚家族。该基因家族包括四种亚型(A1、A2A、A2B和A3),均通过结合腺苷调节细胞信号传导。ADORA2A主要在脑部高表达,尤其在基底神经节、伏隔核和嗅球中,也存在于免疫细胞、血管和心脏等组织。其功能是通过激活Gs蛋白增加细胞内cAMP水平,参与调节神经传递、血管舒张和免疫反应。ADORA2A在运动控制、睡眠-觉醒周期和认知功能中起关键作用,与多巴胺D2受体相互作用调节奖赏和动机行为。突变可能导致受体功能异常,与帕金森病、精神分裂症和药物成瘾相关。例如,某些突变降低受体活性,可能加剧帕金森病的运动症状或增加成瘾风险。ADORA2A过表达可能增强神经保护作用,但过度激活会引发低血压或炎症反应;表达降低则可能导致运动障碍、焦虑或认知缺陷。在帕金森病中,抑制ADORA2A可改善左旋多巴诱导的运动障碍,而在癌症免疫治疗中,阻断ADORA2A能增强T细胞抗肿瘤活性。咖啡因作为非选择性腺苷受体拮抗剂,通过抑制ADORA2A产生兴奋作用。该基因的多态性(如rs5751876)与睡眠模式、焦虑和对咖啡因敏感性差异有关。ADORA2A的调控具有治疗神经系统疾病、心血管疾病和免疫疾病的潜力,是药物开发的重要靶点。
This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily, which is subdivided into classes and subtypes. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein, an adenosine receptor of A2A subtype, uses adenosine as the preferred endogenous agonist and preferentially interacts with the G(s) and G(olf) family of G proteins to increase intracellular cAMP levels. It plays an important role in many biological functions, such as cardiac rhythm and circulation, cerebral and renal blood flow, immune function, pain regulation, and sleep. It has been implicated in pathophysiological conditions such as inflammatory diseases and neurodegenerative disorders. Alternative splicing results in multiple transcript variants. A read-through transcript composed of the upstream SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]
这个基因编码被细分为类和亚型的鸟嘌呤核苷酸结合蛋白(G蛋白)偶联的受体(GPCR)超家族的一个成员。该受体是细胞外线索响应并激活细胞内信号转导途径七次跨膜蛋白。这种蛋白质,A2A亚型的腺苷受体,使用腺苷作为首选的内源性激动剂和优先与G(S)和G蛋白的G(OLF)家族相互作用,以提高细胞内cAMP水平。它在许多生物学功能,如心脏节律和循环,脑和肾血流量,免疫功能,疼痛调节和睡眠中起重要作用。它已牵涉在病理生理条件,如炎性疾病和神经变性疾病。替代拼接结果在多个抄本变形。的只读通过转录上游SPECC1L组成(具有调宁蛋白同源精子抗原和卷曲螺旋结构域1-等)和ADORA2A(腺苷A2A受体)的基因序列已被确定,但是它被认为是无编码。 [由RefSeq的,2013年6月提供]
ADORA2A基因(以及对应的蛋白质)的细胞分布位置:
ADORA2A基因的本体(GO)信息:
名称 |
---|
4015 Rap1 signaling pathway [PATH:hsa04015] |
4020 Calcium signaling pathway [PATH:hsa04020] |
4024 cAMP signaling pathway [PATH:hsa04024] |
4080 Neuroactive ligand-receptor interaction [PATH:hsa04080] |
4270 Vascular smooth muscle contraction [PATH:hsa04270] |
5012 Parkinson's disease [PATH:hsa05012] |
5034 Alcoholism [PATH:hsa05034] |
名称 |
---|
Activation of TRKA receptors |
Adenosine P1 receptors |
Class A/1 (Rhodopsin-like receptors) |
G alpha (s) signalling events |
GPCR downstream signaling |
GPCR ligand binding |
NGF signalling via TRKA from the plasma membrane |
NGF-independant TRKA activation |
Nucleotide-like (purinergic) receptors |
Signal Transduction |
Signaling by GPCR |
Signalling by NGF |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Panic Disorder | 0.134178448 | 8 | 1 | BeFree_CTD_human_GAD_LHGDN |
Anxiety Disorders | 0.125081451 | 12 | 2 | BeFree_CTD_human_GAD |
Rheumatoid Arthritis | 0.125005506 | 3 | 0 | BeFree_CTD_human_GAD |
Amphetamine-Related Disorders | 0.122367032 | 1 | 0 | CTD_human_GAD |
Drug Allergy | 0.122367032 | 1 | 0 | CTD_human_GAD |
Psychoses, Substance-Induced | 0.122367032 | 1 | 0 | CTD_human_GAD |
Sleep Initiation and Maintenance Disorders | 0.122367032 | 2 | 0 | CTD_human_GAD |
Seizures | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Hyperactive behavior | 0.12 | 1 | 0 | CTD_human |
Substance Withdrawal Syndrome | 0.12 | 3 | 0 | CTD_human |
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