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中文人类
PPIP5K2 - Diphosphoinositol Pentakisphosphate Kinase 2
Alias:
VIP2
IP7K2
CFAP160
DFNB100
HISPPD1
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这个基因编码组氨酸酸磷酸酶家族蛋白质的一员。尽管包含一个组氨酸酸磷酸酶结构域，但编码的蛋白质作为肌醇焦磷酸激酶发挥作用，被认为缺乏磷酸酶活性。这种激酶活性是编码蛋白质合成高能肌醇焦磷酸的机制，肌醇焦磷酸作为调节细胞内稳态和其他过程的信号分子发挥作用。这个基因可能与人类患者的自闭症谱系障碍有关。[由RefSeq，2016年9月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PPIP5K2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
