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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
PLCG2 - Phospholipase C Gamma 2
Alias:
FCAS3
APLAID
PLC-IV
PLC-gamma-2
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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一种跨膜信号酶,它使用钙作为辅因子,催化1-磷酸磷脂酰-1D-肌醇4,5-二磷酸酯转化为1D-肌醇1,4,5-三磷酸酯(IP3)和二酰基甘油(DAG)。IP3和DAG是第二信使分子,对于从生长因子受体和免疫系统受体传递信号穿过细胞膜非常重要。这个基因的突变与自身炎症、抗体缺陷和免疫调节综合症以及家族性冷自身炎症综合症3有关。[RefSeq提供,2014年3月]
Related ID:
NCBI:5336
ENSEMBL:ENSG00000197943
HGNC:9066
UNIPROT:P16885
OMIM:600220
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5336
1
33
183395 bp
147.87
1197
2
20
13
PLCG2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Name
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Status
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No data available
References Literature
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No Data Found!
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