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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
ACVR2A - Activin A Receptor Type 2A
Alias:
ACVR2
ACTRII
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个受体,该受体调节激活素的功能,激活素是参与多种生物过程的转化生长因子-β(TGF-β)超家族的成员。编码的蛋白质是一种跨膜丝氨酸-苏氨酸激酶受体,通过以细胞特异性方式与I型和II型受体和配体的不同组合形成异源二聚体复合物来传递信号。编码的II型受体主要参与配体结合,包括一个细胞外的配体结合结构域,一个跨膜结构域和一个胞质丝氨酸-苏氨酸激酶结构域。这个基因可能与妊娠相关疾病先兆子痫的易感性有关,先兆子痫可能导致母亲和胎儿发病率和死亡率。可变剪接导致这个基因的多个转录变异体。[RefSeq,2013年6月提供]
Related ID:
NCBI:92
ENSEMBL:ENSG00000121989
HGNC:173
UNIPROT:P27037
OMIM:102581
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
92
4
11
86306 bp
57.85
9
1
9
11
ACVR2A Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Type
Name
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CAS Number
Status
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Link
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References Literature
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