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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
HTR2B - 5-hydroxytryptamine Receptor 2B
Alias:
5-HT2B
5-HT-2B
5-HT(2B)
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码几种不同的5-羟色胺(血清素)受体之一,属于G蛋白偶联受体1家族。血清素是一种生物激素,作为神经递质、激素和促细胞分裂剂发挥作用。血清素受体调节血清素的许多中枢和外周生理功能,包括心血管功能的调节和冲动行为。基于人群和家庭的小型等位基因(谷氨酰胺-至-停止替换,命名为Q20*)可以阻止这个蛋白质的表达,以及小鼠的敲除研究,表明这个基因在冲动性方面发挥作用。然而,其他因素,如睾酮水平升高,也可能涉及其中。已经发现这个基因的替代剪接转录变异体。[RefSeq,2016年3月提供]
Related ID:
NCBI:3357
ENSEMBL:ENSG00000135914
HGNC:5294
UNIPROT:P41595
OMIM:601122
Basic Information
NCBI
Transcripts
Exons
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MW (kDa)
Mutations
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Reference
3357
5
4
16813 bp
54.30
24
--
8
18
HTR2B Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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