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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
PPP3CA - Protein Phosphatase 3 Catalytic Subunit Alpha
Alias:
CALN
CCN1
CNA1
CALNA
DEE91
IECEE
PPP2B
ACCIID
CALNA1
IECEE1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
具有多种功能,包括ATP酶结合活性;钙调蛋白结合活性;以及钙调蛋白依赖性蛋白磷酸酶活性。参与多种过程,包括钙神经素-NFAT信号级联;肽基-丝氨酸脱磷酸化;以及响应钙离子。位于几个细胞组件中,包括胞质;树突状棘;以及核质。钙神经素复合物的一部分。与质膜的细胞质侧共定位。与发育性和癫痫性脑病91有关。局灶性节段性肾小球硬化症和精神分裂症的生物标志物。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:5530
ENSEMBL:ENSG00000138814
HGNC:9314
UNIPROT:Q08209
OMIM:114105
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5530
3
14
324109 bp
58.69
332
4
7
42
PPP3CA 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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