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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
TGM2 - Transglutaminase 2
Alias:
TGC
tTG
G(h)
hTG2
TG(C)
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
转谷氨酰胺酶是一种催化蛋白质通过epsilon-gamma谷氨酰赖氨酸异肽键交联的酶。虽然转谷氨酰胺酶的初级结构不保守,但它们在活性部位都有相同的氨基酸序列,且其活性依赖于钙。此基因编码的蛋白质作为单体存在,被视黄酸诱导,并似乎涉及细胞凋亡。最后,该编码的蛋白质是自身抗原,与乳糜泻疾病有关。已发现此基因有两个转录变异体,编码不同的异构体。[RefSeq,2008年7月提供]
Related ID:
NCBI:7052
ENSEMBL:ENSG00000198959
HGNC:11778
UNIPROT:P21980
OMIM:190196
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7052
7
13
41091 bp
77.33
54
--
9
43
TGM2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
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
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
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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