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中文人类
CASQ2 - Calsequestrin 2
Alias:
PDIB2
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这个基因编码的蛋白质是钙调蛋白家族的心脏肌肉成员。钙调蛋白主要定位在心脏和慢速骨骼肌细胞的肌质网中。这种蛋白质是一种钙结合蛋白，负责储存钙以维持肌肉功能。这个基因的突变会导致应激诱导的多形性室性心动过速，也被称为儿茶酚胺敏感性多形性室性心动过速2型（CPVT2），这是一种以双向室性心动过速为特征的疾病，可能导致心脏骤停。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CASQ2 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
