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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
CD53 - CD53 Molecule
Alias:
MOX44
TSPAN25
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是跨膜4超家族,也称为四跨膜蛋白家族的成员。这些成员中的大多数是细胞表面蛋白,其特点是存在四个疏水域。这些蛋白质介导信号转导事件,对细胞发育、激活、生长和运动的调节起着重要作用。编码的蛋白质是一种细胞表面糖蛋白,已知能与整合素复合。它有助于T细胞和自然杀伤细胞中由CD2产生的信号传导,并被认为在生长调节中发挥作用。该基因的家族性缺乏已被与由细菌、真菌和病毒引起的复发性感染性疾病相关的免疫缺陷联系起来。可变剪接导致多种转录变体。[由RefSeq提供,2016年3月]
Related ID:
NCBI:963
ENSEMBL:ENSG00000143119
HGNC:1686
UNIPROT:P19397
OMIM:151525
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
963
6
8
28713 bp
24.34
5
--
5
6
CD53 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
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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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