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中文人类
CACNA2D2 - Calcium Voltage-gated Channel Auxiliary Subunit Alpha2delta 2
Alias:
CASVDD
CACNA2D
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钙通道在膜极化时介导钙离子进入细胞。该基因编码电压依赖性钙通道复合物的α-2/δ亚基。该复合物由形成主要通道的主要亚基α-1和辅助亚基α-2/δ、β和γ组成。辅助亚基在复合物的组装和膜定位中起作用，并调节钙电流和通道激活/失活动力学。该基因编码的亚基经历翻译后切割，产生细胞外α2肽和膜锚定的δ多肽。该亚基是抗癫痫药物加巴喷丁的受体。该基因的突变与婴儿早期癫痫性脑病有关。该基因的单核苷酸多态性与对阿片类药物的敏感性增加相关。选择性剪接产生多种转录变异体，编码不同的异构体。[RefSeq，2014年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CACNA2D2 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
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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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References Literature
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