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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
CHERP - Calcium Homeostasis Endoplasmic Reticulum Protein
Alias:
SRA1
DAN16
SCAF6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
具有膜转运蛋白结合活性。参与钙调素-NFAT信号级联的正向调节和细胞内隐含的钙离子释放到胞质中。在细胞内钙离子稳态的负向调节和细胞群增殖中起到上游或细胞内的作用。位于细胞质的核周区域。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:10523
ENSEMBL:ENSG00000085872
HGNC:16930
UNIPROT:Q8IWX8
OMIM:618539
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10523
1
17
24544 bp
103.70
27
--
3
16
CHERP 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
Alphabetical
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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