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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
HTR2C - 5-hydroxytryptamine Receptor 2C
Alias:
HTR1C
5-HT1C
5-HT2C
5HTR2C
5-HTR2C
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个七跨膜G蛋白耦合受体。编码的蛋白质对神经递质血清素的信号传导作出反应。这个基因的mRNA受到多种RNA编辑事件的影响,其中基因组编码的腺苷酸残基被转化为肌苷。RNA编辑预测会改变第二个细胞内环的结构,从而产生具有降低与G蛋白相互作用能力的替代蛋白质形式。这个基因的RNA编辑异常已经在患有抑郁症的自杀受害者中检测到。此外,这个基因的启动子和5'非编码区以及编码区的自然变异可能与精神疾病和行为障碍具有统计学显著的相关性。可变剪接导致多个不同的转录变异体。[RefSeq,2015年1月提供]
Related ID:
NCBI:3358
ENSEMBL:ENSG00000147246
HGNC:5295
UNIPROT:P28335
OMIM:312861
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3358
3
6
325976 bp
51.80
29
--
16
20
HTR2C Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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References Literature
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