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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
ADRB2 - Adrenoceptor Beta 2
Alias:
BAR
B2AR
ADRBR
ADRB2R
BETA2AR
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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β2-肾上腺素受体,属于G蛋白偶联受体超家族成员。这个受体直接与其终极效应子之一,C类L型钙通道Ca(V)1.2相关联。这个受体通道复合物还包含一个G蛋白,一个腺苷酸环化酶,cAMP依赖性激酶,以及平衡的磷酸酶PP2A。信号复合物的组装提供了一种机制,确保这个G蛋白偶联受体的特异和快速信号传导。这个受体也是α-突触核蛋白基因的转录调节因子,人们认为这两个基因都与帕金森病的风险有关。这个基因是无内含子的。这个基因的不同多态形式,点突变和/或表达下调与夜间哮喘,肥胖,2型糖尿病和心血管疾病有关。[由RefSeq,2019年10月提供]
Related ID:
NCBI:154
ENSEMBL:ENSG00000169252
HGNC:286
UNIPROT:P07550
OMIM:109690
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
154
1
1
2013 bp
46.46
37
--
7
34
ADRB2 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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