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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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小鼠
Magi2 - membrane associated guanylate kinase, WW and PDZ domain containing 2
Alias:
AIP-1
Acvri1
Magi-2
S-SCAM
Acvrip1
Acvrinp1
mKIAA0705
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活SMAD结合活性和II型激活素受体结合活性。参与几个过程,包括SMAD蛋白信号传导;神经联接蛋白簇集,涉及突触后膜组装;以及突触囊泡簇集的正向调节。在信号传导的上游或内部发挥作用。位于细胞质、树突和质膜上。在几个结构中表达,包括鳃弓;生殖泌尿系统;肢体;神经系统;和刚毛。用于研究精神分裂症。这个基因的人类同源物与1型肾病综合症有关。与人类的MAGI2(膜关联鸟苷酸激酶,含WW和PDZ结构域2)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:50791
ENSEMBL:ENSMUSG00000040003
UNIPROT:Q9WVQ1
Basic Information
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Transcripts
Exons
Length
MW (kDa)
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Reference
50791
17
23
1478004 bp
140.92
4
12
Magi2 Genetics information (+)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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