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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
COL8A2 - Collagen Type VIII Alpha 2 Chain
Alias:
FECD
PPCD
FECD1
PPCD2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码第八型胶原的α2链。这个蛋白质是角膜内皮基底膜的主要成分,可以形成同或异三聚体与第八型胶原的α1链。这个基因的缺陷与福克斯角膜内皮变性及后部多形性角膜变性2型有关。不同的剪接方式会产生多个转录变体。[由RefSeq在2014年6月提供]
Related ID:
NCBI:1296
ENSEMBL:ENSG00000171812
HGNC:2216
UNIPROT:P25067
OMIM:120252
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1296
2
4
29984 bp
67.24
77
4
6
9
COL8A2 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
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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