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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
PRB2 - Proline Rich Protein BstNI Subfamily 2
Alias:
Ps
cP7
IB-9
PRPPRB1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个异质家族的基本成员,该家族包括人类唾液中的脯氨酸丰富的糖蛋白。编码的前原原蛋白在从腮腺腺体分泌之前经历蛋白水解处理,产生一个或多个成熟的异构体。已经发现了这个基因的多个等位基因,它们在串联重复的长度、多态性切割位点和多态性终止密码子方面存在差异。这个基因位于染色体12上一个紧密相关的唾液脯氨酸丰富蛋白簇中。[RefSeq,2015年10月提供]
Related ID:
NCBI:653247
ENSEMBL:ENSG00000121335
HGNC:9338
UNIPROT:P02812
OMIM:168810
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
653247
1
4
4028 bp
40.81
43
--
--
12
PRB2 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
Reset
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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