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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
PTBP2 - Polypyrimidine Tract Binding Protein 2
Alias:
nPTB
PTBLP
brPTB
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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能结合到前mRNA分子中的内含子多嘧啶簇,并且被认为在控制其他剪接调节蛋白的组装中起作用。这个蛋白质与多嘧啶轨道结合蛋白(PTB)非常相似,但它的大多数同源体主要在大脑中表达。选择性剪接导致多种转录变体。[由RefSeq提供,2014年7月]
Related ID:
NCBI:58155
ENSEMBL:ENSG00000117569
HGNC:17662
UNIPROT:Q9UKA9
OMIM:608449
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
58155
14
14
101956 bp
57.49
13
--
5
11
PTBP2 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
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Cell-specific RNA expression
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Type
Name
MGI
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Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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