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中文人类
ITPR2 - Inositol 1,4,5-trisphosphate Receptor Type 2
Alias:
ANHD
IP3R2
CFAP48
INSP3R2
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这个基因编码的蛋白质属于肌醇1,4,5-三磷酸受体家族，其成员是第二信使细胞内钙释放通道。这些蛋白质调节细胞质钙的升高，以响应受体激活产生的肌醇三磷酸。肌醇三磷酸受体介导的信号参与许多过程，包括细胞迁移、细胞分裂、平滑肌收缩和神经信号传递。这种蛋白质是2型受体，由结合肌醇三磷酸的细胞质氨基末端、贡献离子孔的六个跨膜螺旋以及短的细胞质羧基末端组成。这个基因的突变与无汗症有关，提示这种蛋白质介导的细胞内钙释放对于外分泌汗腺产生是必需的。[由RefSeq，2015年4月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ITPR2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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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
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Name
MGI
Strain of Origin
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CAS Number
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Link
References Literature
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PMID
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Year
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