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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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NOD2 - Nucleotide Binding Oligomerization Domain Containing 2
Alias:
CD
ACUG
BLAU
IBD1
YAOS
BLAUS
NLRC2
NOD2B
CARD15
CLR16.3
PSORAS1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是Nod1/Apaf-1家族的成员,编码一个具有两个天冬氨酸酶招募结构域(CARD)和六个富含亮氨酸的重复序列(LRR)的蛋白质。该蛋白质主要在周围血白细胞中表达。它通过识别来自内源性细菌脂多糖(LPS)的胞壁肽(MDP)并激活NFKB蛋白质,在免疫应答中对内源性细菌脂多糖(LPS)发挥作用。这个基因的突变与克罗恩病和布劳综合征有关。已经发现这个基因有不同的剪接转录变异体,它们编码不同的异构体。[RefSeq,2014年6月提供]
Related ID:
NCBI:64127
ENSEMBL:ENSG00000167207
HGNC:5331
UNIPROT:Q9HC29
OMIM:605956
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
64127
15
12
39470 bp
115.28
857
5
16
63
NOD2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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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
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Type
Name
MGI
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CAS Number
Status
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Link
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References Literature
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