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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
HPCA - Hippocalcin
Alias:
BDR2
DYT2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是视网膜和大脑中发现的神经特异性钙结合蛋白家族的成员。这种蛋白质与细胞膜有关。它与位于光感受器细胞中的蛋白质相似,这些蛋白质以钙敏感的方式调节光信号传导。这种蛋白质显示恢复蛋白活性和钙依赖性抑制视紫红质激酶。它与大鼠和小鼠的hippocalcin蛋白质相同,被认为在许多物种的中枢神经系统神经元中发挥重要作用。[由RefSeq提供,2008年7月]
Related ID:
NCBI:3208
ENSEMBL:ENSG00000121905
HGNC:5144
UNIPROT:P84074
OMIM:142622
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3208
3
4
8651 bp
22.43
37
2
5
6
HPCA Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
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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
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Abundance
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Interactions
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Type
Name
MGI
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No data available
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Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
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IF
No Data Found!
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