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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
CSF2 - Colony Stimulating Factor 2
Alias:
CSF
GMCSF
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种细胞因子,可以控制粒细胞和巨噬细胞的产生、分化和功能。活性形式的蛋白质在细胞外以同源二聚体的形式存在。这个基因位于染色体区域5q31上的一组相关基因簇中,已知与5q-综合征和急性髓细胞性白血病的间充质缺失有关。该基因簇中的其他基因包括编码白细胞介素4、5和13的基因。这个基因在促进组织炎症中发挥作用。在SARS-CoV-2感染的患者中,已经检测到包括这个基因产生的细胞因子在内的细胞因子水平升高,这些患者发展为急性呼吸窘迫综合症。缺乏这个基因或其受体的小鼠会发生肺泡蛋白沉积症。[RefSeq,2020年8月提供]
Related ID:
NCBI:1437
ENSEMBL:ENSG00000164400
HGNC:2434
UNIPROT:P04141
OMIM:138960
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1437
1
4
2382 bp
16.30
8
--
12
11
CSF2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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Protein
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No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
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Related Drugs
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CAS Number
Status
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Link
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References Literature
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