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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
ANXA11 - Annexin A11
Alias:
ALS23
ANX11
CAP50
CAP-50
IBMWMA
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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annexin家族的成员,这是一组依赖于钙的磷脂结合蛋白。Annexins具有独特的N端结构域和保守的C端结构域,其中包含依赖于钙的磷脂结合位点。编码的蛋白质是一种56kD的抗原,可由各种自身免疫性疾病患者的血清识别。已经发现了几种编码两种不同异构体的转录变异体。[由RefSeq提供,2015年12月]
Related ID:
NCBI:311
ENSEMBL:ENSG00000122359
HGNC:535
UNIPROT:P50995
OMIM:602572
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
311
11
16
54920 bp
54.39
251
4
5
18
ANXA11 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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