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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
ANXA7 - Annexin A7
Alias:
SNX
ANX7
SYNEXIN
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
Annexin VII是钙依赖性磷脂结合蛋白的annexin家族的一员。Annexin VII基因包含14个外显子,大约覆盖34kb的DNA。一个替代剪接的盒式外显子导致两个mRNA转录本,长度分别为2.0和2.4kb,预测会产生两种不同的蛋白质异构体,其N端结构域不同。替代剪接事件具有组织特异性,包含盒式外显子的mRNA在大脑、心脏和骨骼肌中普遍存在。这些转录本在它们的3'-非编码区域中通过使用两个替代的poly(A)信号而不同。Annexin VII编码一个分子量约为51kDa的蛋白质,具有独特的、高度疏水的167个氨基酸的N端结构域和保守的299个氨基酸的C端区域。后者由交替的疏水区域和亲水区域组成。蛋白质的结构分析表明,Annexin VII是一种具有多种性质的膜结合蛋白,包括电压敏感的钙通道活性、离子选择性和膜融合。[由RefSeq,2008年7月提供]
Related ID:
NCBI:310
ENSEMBL:ENSG00000138279
HGNC:545
UNIPROT:P20073
OMIM:186360
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
310
5
13
38958 bp
52.74
25
--
3
9
ANXA7 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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