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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
CD48 - CD48 Molecule
Alias:
BCM1
BLAST
hCD48
mCD48
BLAST1
SLAMF2
MEM-102
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码免疫球蛋白样受体CD2亚家族的一员,包括SLAM(信号淋巴细胞激活分子)蛋白。编码的蛋白质位于淋巴细胞和其他免疫细胞、树突状细胞和内皮细胞的表面,并参与这些细胞中的激活和分化途径。然而,编码的蛋白质没有跨膜结构域,而是通过GPI锚定在细胞表面,并通过可能被切割以产生受体的可溶形式的可变C端结构域。已发现这个基因的多个转录变异体,编码不同的异构体。[RefSeq提供,2011年12月]
Related ID:
NCBI:962
ENSEMBL:ENSG00000117091
HGNC:1683
UNIPROT:P09326
OMIM:109530
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
962
5
4
33077 bp
27.68
18
--
4
15
CD48 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
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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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