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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
小鼠
Enpp2 - ectonucleotide pyrophosphatase/phosphodiesterase 2
Alias:
ATX
Npps2
Pdnp2
E-NPP 2
lysoPLD
PD-Ialpha
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码磷酸二酯酶和核苷酸焦磷酸酶家族的成员,这些成员是双功能酶,可以水解各种核苷酸的磷酸二酯键。编码的蛋白质经过蛋白水解加工,生成具有溶血磷脂酶D活性的成熟蛋白质,催化从溶血磷脂酰胆碱中切割胆碱基团,产生溶血磷脂酸。这个基因在许多组织中表达,参与神经发育、肥胖、炎症和癌症发生。在小鼠中完全缺乏编码的蛋白质导致血管和神经发育异常,导致胚胎致死。可选的剪接导致多个转录变异体,这些变异体可以编码经过类似加工以生成成熟蛋白质的不同异构体。[由RefSeq,2015年9月提供]
Related ID:
NCBI:18606
ENSEMBL:ENSMUSG00000022425
UNIPROT:Q9R1E6
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
18606
23
25
113988 bp
98.89
11
15
Enpp2 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
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Cell-specific RNA expression
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Regulation
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Type
Name
MGI
Strain of Origin
Publications
Mutations
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References Literature
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PMID
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Year
IF
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