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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
IL4R - Interleukin 4 Receptor
Alias:
CD124
IL4RA
IL-4RA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码白介素-4受体的alpha链,这是一种I型跨膜蛋白,可以结合白介素4和13来调节IgE的产生。编码的蛋白质还可以结合白介素4,促进Th2细胞的分化。通过膜结合蛋白质的蛋白水解作用,可以产生可溶性的编码蛋白质形式,这种可溶形式可以抑制T细胞介导的细胞增殖和IL5的上调。这个基因的等位基因变异与特应性有关,这是一种可能表现为过敏性鼻炎、鼻窦炎、哮喘或湿疹的症状。这个基因的多态性与对抗人免疫缺陷病毒1型感染的抵抗力有关。交替剪接导致多个转录变异体。[由RefSeq,2012年4月提供]
Related ID:
NCBI:3566
ENSEMBL:ENSG00000077238
HGNC:6015
UNIPROT:P24394
OMIM:147781
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3566
15
11
51023 bp
89.66
48
--
14
29
IL4R Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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