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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
AVPR1B - Arginine Vasopressin Receptor 1B
Alias:
V1bR
VPR3
AVPR3
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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作为精氨酸加压素的受体。这个受体属于G-蛋白偶联受体亚家族,包括AVPR1A、V2R和OXT受体。其活性由G蛋白介导,刺激磷脂酰肌醇-钙第二信使系统。受体主要位于前脑垂体,刺激ACTH的释放。它在分泌ACTH的垂体腺瘤中表达水平很高,以及负责异位ACTH综合征的支气管类癌中表达水平很高。这个基因的一个剪接反义转录本已经被报道,但其功能尚不清楚。[由RefSeq,2008年7月提供]
Related ID:
NCBI:553
ENSEMBL:ENSG00000198049
HGNC:896
UNIPROT:P47901
OMIM:600264
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
553
1
2
10453 bp
46.97
29
--
7
8
AVPR1B Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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No data available
* This data comes from NCBI.
Gene Expression
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