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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
ACVR2B - Activin A Receptor Type 2B
Alias:
HTX4
ACTRIIB
ActR-IIB
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
激活素是一种属于结构相关的信号蛋白的转化生长因子-β(TGF-β)超家族的二聚生长和分化因子。激活素通过包括至少两种类型I(I和IB)和两种类型II(II和IIB)受体的受体丝氨酸激酶异源复合物发出信号。这些受体都是跨膜蛋白,由具有半胱氨酸丰富区域的配体结合细胞外结构域、跨膜结构域和具有预测的丝氨酸/苏氨酸特异性的胞质结构域组成。类型I受体对信号传导是必不可少的;类型II受体对结合配体和表达类型I受体是必需的。在配体结合后,类型I和II受体形成稳定的复合物,导致类型I受体被类型II受体磷酸化。类型II受体被认为是具有组成性活性激酶。这个基因编码激活素A型IIB受体,它显示了对配体的高3-4倍亲和力,比激活素A型II受体更高。[由RefSeq,2008年7月提供]
Related ID:
NCBI:93
ENSEMBL:ENSG00000114739
HGNC:174
UNIPROT:Q13705
OMIM:602730
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
93
5
11
39253 bp
57.72
323
2
8
11
ACVR2B Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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