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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
DSG2 - Desmoglein 2
Alias:
HDGC
CDHF5
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Description
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于脱细胞粘附分子超家族的成员。脱细胞粘附分子是细胞间粘附分子,包括上皮细胞、心肌细胞和其他类型的细胞。编码的前原原蛋白在蛋白水解过程中被加工成成熟的糖蛋白。这个基因与其他脱细胞粘附基因家族成员一起位于染色体18上。这个基因的突变与家族性心律失常性右心室发育不良有关。[RefSeq,2016年1月提供]
Related ID:
NCBI:1829
ENSEMBL:ENSG00000046604
HGNC:3049
UNIPROT:Q14126
OMIM:125671
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1829
2
15
50832 bp
122.29
1517
9
14
24
DSG2 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
Alphabetical
Interactions
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Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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