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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
ANXA4 - Annexin A4
Alias:
ANX4
P32.5
PIG28
PP4-X
ZAP36
PAP-II
HEL-S-274
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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 IV (ANX4) 属于钙依赖性磷脂结合蛋白的膜联蛋白家族。尽管其功能仍不明确,但已发现膜联蛋白家族的几个成员与外泌体和内吞途径的膜相关事件有关。ANX4与其家族其他成员有45到59%的相似性,并具有相似的大小和外显子-内含子结构。该基因从人类胎盘分离出来,编码一个具有与ATP可能的相互作用,并在体外具有抗凝活性和抑制磷脂酶A2活性的蛋白质。ANX4几乎专门在上皮细胞中表达。已发现该基因编码不同异构体的几种转录变异体。[RefSeq,2016年3月提供]
Related ID:
NCBI:307
ENSEMBL:ENSG00000196975
HGNC:542
UNIPROT:P09525
OMIM:106491
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
307
11
13
183305 bp
35.88
13
--
5
13
ANXA4 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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Status
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Link
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