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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
小鼠
Trem2 - triggering receptor expressed on myeloid cells 2
Alias:
TREM-2
Trem2a
Trem2b
Trem2c
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码的蛋白质属于免疫球蛋白和凝集素超家族,并作为先天免疫系统的一部分发挥作用。这个基因组成小鼠第17号染色体上一组被认为与先天免疫有关的基因的一部分。这个蛋白质与衔接蛋白Dap-12结合,并招募几个因子,如激酶和磷脂酶C-γ,形成一个激活髓系细胞(包括树突状细胞和小胶质细胞)的受体信号复合物。在人类中,这个基因上的纯合失功能突变导致Nasu-Hakola病,而这个基因的突变可能是发展阿尔茨海默病的危险因素。在鼠中,这个基因的突变是具有硬化性白质营养不良的多囊性膜性骨营养不良(Nasu-Hakola病)和炎症性肠病的病理生理学模型。可变剪接产生多种编码不同蛋白质异型的转录变异体。[RefSeq,2013年1月提供]
Related ID:
NCBI:83433
ENSEMBL:ENSMUSG00000023992
UNIPROT:Q99NH8
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
83433
2
5
5876 bp
24.53
31
24
Trem2 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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