ADRA2C (adrenoceptor alpha 2C)
- symbol:
- ADRA2C
- locus group:
- protein-coding gene
- location:
- 4p16.3
- gene_family:
- Adrenoceptors
- alias symbol:
- ADRARL2
- alias name:
- None
- entrez id:
- 152
- ensembl gene id:
- ENSG00000184160
- ucsc gene id:
- uc003ghm.4
- refseq accession:
- NM_000683
- hgnc_id:
- HGNC:283
- approved reserved:
- 1986-01-01
ADRA2C（Alpha-2C Adrenergic Receptor）属于肾上腺素受体基因家族中的α-2亚型家族，该家族还包括ADRA2A和ADRA2B。这些基因编码的蛋白质是G蛋白偶联受体（GPCR），主要通过与Gi/o蛋白结合来抑制腺苷酸环化酶活性，从而降低细胞内cAMP水平。ADRA2C主要在脑部、血管平滑肌和血小板中表达，参与调节交感神经系统的活动，影响血压、心率和神经递质释放。其功能特点是抑制去甲肾上腺素的释放，从而调节血管收缩和交感神经活性。ADRA2C的突变可能导致受体功能异常，例如某些突变会降低受体与配体的结合能力，从而影响信号传导，与高血压、心血管疾病和精神障碍（如抑郁症和精神分裂症）有关。过表达ADRA2C可能导致交感神经活性过度抑制，引起低血压或心血管功能异常，而降低表达则可能导致交感神经过度活跃，增加高血压和焦虑的风险。此外，ADRA2C与其他肾上腺素受体（如ADRA1和ADRB）相互作用，共同调节机体的应激反应。该基因家族的共性在于它们均通过儿茶酚胺类神经递质（如去甲肾上腺素和肾上腺素）激活，并在自主神经系统和心血管系统中发挥关键作用。
Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. The mouse studies revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons. The alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes the alpha2C subtype, which contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008]
α-2-肾上腺素能受体是G蛋白偶联受体超家族的成员。它们包括3高度同源的亚型：alpha2A，alpha2B和alpha2C。这些受体具有调节从交感神经和在中枢神经系统肾上腺素的神经元的神经递质释放的关键作用。鼠标研究表明，无论是alpha2A和alpha2C亚型需要从心脏和中央肾上腺素能神经元交感神经递质释放的突触前的正常控制。该alpha2A亚型抑制递质释放在高刺激频率，而alpha2C亚型调制的神经递质在较低级别的神经活动。该基因编码的alpha2C亚型，其中包含以它的编码和非编码序列，没有内含子。 [由RefSeq的，2008年7月提供]
基因本体信息
ADRA2C基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
ADRA2C基因的本体（GO）信息：
| 名称 |
|---|
| 4022 cGMP - PKG signaling pathway [PATH:hsa04022] |
| 4080 Neuroactive ligand-receptor interaction [PATH:hsa04080] |
| 名称 |
|---|
| Adrenaline signalling through Alpha-2 adrenergic receptor |
| Adrenaline,noradrenaline inhibits insulin secretion |
| Adrenoceptors |
| Amine ligand-binding receptors |
| Class A/1 (Rhodopsin-like receptors) |
| G alpha (i) signalling events |
| G alpha (z) signalling events |
| GPCR downstream signaling |
| GPCR ligand binding |
| Hemostasis |
| Integration of energy metabolism |
| Metabolism |
| Platelet activation, signaling and aggregation |
| Platelet Aggregation (Plug Formation) |
| Regulation of insulin secretion |
| Signal Transduction |
| Signaling by GPCR |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Heart failure | 0.130553895 | 9 | 0 | BeFree_CTD_human_GAD |
| Cardiomegaly | 0.12 | 1 | 0 | CTD_human |
| Fibrosis | 0.12 | 1 | 0 | CTD_human |
| Hyperalgesia | 0.08 | 1 | 0 | RGD |
| Neuralgia | 0.08 | 1 | 0 | RGD |
| Attention deficit hyperactivity disorder | 0.008458305 | 7 | 0 | BeFree_GAD |
| Systemic arterial pressure | 0.007101096 | 3 | 0 | GAD |
| Hypertensive disease | 0.00554839 | 4 | 0 | BeFree_GAD |
| Major Depressive Disorder | 0.005362824 | 1 | 0 | BeFree_GAD_LHGDN |
| Cardiomyopathy, Dilated | 0.005091382 | 1 | 0 | GAD_LHGDN |
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