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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
SECISBP2 - SECIS Binding Protein 2
Alias:
SBP2
THMA1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是参与硒代半胱氨酸(Sec)共翻译插入到硒蛋白中的机制的基本组件之一。Sec 由 UGA 密码子编码,通常表示翻译终止。将 UGA 密码子重编码为 Sec 密码子需要一个 Sec 插入序列(SECIS)元素,该元素存在于真核生物硒蛋白 mRNA 的 3' 非翻译区。这种蛋白质特异地结合到 SECIS 元素上,该元素受到 Sec 特异性的翻译延长因子刺激。这个基因的突变与 II 型碘噻吨脱碘酶(一种硒蛋白)的酶活性降低和甲状腺激素代谢异常有关。已经发现了这个基因的可变剪接转录变异体。[RefSeq,2017 年 8 月提供]
Related ID:
NCBI:79048
ENSEMBL:ENSG00000187742
HGNC:30972
UNIPROT:Q96T21
OMIM:607693
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
79048
25
17
48618 bp
95.46
67
2
8
8
SECISBP2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Name
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Status
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Link
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References Literature
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