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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
AGTR2 - Angiotensin II Receptor Type 2
Alias:
AT2
ATGR2
MRX88
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于G-蛋白偶联受体1家族,作为血管紧张素II的受体。它是一种整合膜蛋白,在胎儿和新生儿中高表达,但在成人组织中除大脑、肾上腺髓质和闭锁卵巢外表达较少。这个受体已被证明可以调节程序性细胞死亡,这种凋亡功能在发育生物学和病理生理学中可能发挥重要作用。这个基因的突变与X-连锁认知障碍有关。严重急性呼吸综合症冠状病毒(SARS-CoV)和SARS-CoV-2感染导致血管紧张素转换酶-2(ACE2)受体下调,其作用触发相关组织中严重的炎症损伤,主要发生在肺部。炎症反应似乎是由血管紧张素II衍生物,包括已发现在2019年冠状病毒病(COVID-19)患者的支气管肺泡灌洗样本中上调的血管紧张素AT2受体介导的。[RefSeq,2020年7月提供]
Related ID:
NCBI:186
ENSEMBL:ENSG00000180772
HGNC:338
UNIPROT:P50052
OMIM:300034
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
186
2
3
4231 bp
41.18
35
1
7
16
AGTR2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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