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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
DAZAP2 - DAZ Associated Protein 2
Alias:
PRTB
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个富含脯氨酸的蛋白质,通过与无精子症缺失的(DAZ)和类似无精子症基因通过DAZ样重复序列相互作用。这个蛋白质还可以与转化生长因子-β信号分子SARA(受体激活的Smad锚定点)、真核起始因子4G和一种调节其剪接因子含核颗粒稳定性的E3泛素酶相互作用。编码的蛋白质可能在各种生物和病理过程中发挥作用,包括精子发生、细胞信号传导和转录调控、翻译停止期间的应激颗粒形成、RNA剪接和多发性骨髓瘤的发病机制。已经发现这个基因的多种转录变异体编码不同的异构体。[RefSeq,2008年10月提供]
Related ID:
NCBI:9802
ENSEMBL:ENSG00000183283
HGNC:2684
UNIPROT:Q15038
OMIM:607431
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9802
6
4
7892 bp
17.32
10
--
4
14
DAZAP2 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)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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