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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
CLEC4M - C-type Lectin Domain Family 4 Member M
Alias:
CD299
LSIGN
CD209L
L-SIGN
DCSIGNR
HP10347
DC-SIGN2
DC-SIGNR
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种C型凝集素,在细胞粘附和病原体识别中发挥作用。这个受体能识别大量具有重大公共卫生影响的进化上不同的病原体,包括结核分枝杆菌和包括埃博拉病毒、丙型肝炎病毒、HIV-1、甲型流感病毒、西尼罗病毒和SARS-CoV急性呼吸综合症冠状病毒。该蛋白由四个不同的结构域组成:一个C端糖识别结构域,一个可变长度的柔性串联重复颈域,一个跨膜区域和一个N端细胞质内域,涉及内化。这个基因在序列和功能方面与相邻的基因CD209(基因ID:30835)密切相关。这两个基因在病毒识别和表达模式方面有所不同,这个基因在肝、淋巴结和胎盘的内皮细胞中高表达。串联重复颈域的变异与抵抗SARS感染有关。[RefSeq,2020年5月提供]
Related ID:
NCBI:10332
ENSEMBL:ENSG00000104938
HGNC:13523
UNIPROT:Q9H2X3
OMIM:605872
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10332
4
7
6363 bp
45.35
10
--
11
25
CLEC4M 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
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Alphabetical
Cell-specific RNA expression
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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
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Link
No data available
References Literature
Title
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Journal
Year
IF
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