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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
MBL2 - Mannose Binding Lectin 2
Alias:
MBL
MBP
MBP1
MBPD
MBL2D
MBP-C
COLEC1
HSMBPC
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码可溶性的甘露糖结合凝集素或血清中的甘露糖结合蛋白。编码的蛋白质属于收集素家族,是先天免疫系统的重要组成部分。该蛋白质识别并结合许多微生物上的甘露糖和N-乙酰葡糖胺,包括细菌、酵母和病毒,如流感病毒、HIV和SARS-CoV。这种结合激活经典补体途径。该基因的缺陷与自身免疫和感染疾病的易感性有关。[RefSeq,2020年6月提供]
Related ID:
NCBI:4153
ENSEMBL:ENSG00000165471
HGNC:6922
UNIPROT:P11226
OMIM:154545
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4153
3
5
7405 bp
26.14
101
1
6
23
MBL2 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
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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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