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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
IFNGR2 - Interferon Gamma Receptor 2
Alias:
AF-1
IFGR2
IMD28
IFNGT1
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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(IFNGR2)编码γ干扰素受体的非结合配体β链。人类干扰素-γ受体是一个由IFNGR1和IFNGR2组成的异源二聚体。IFNGR2的缺陷是曼德尔氏对分枝杆菌疾病(MSMD)易感性的原因,也被称为家族性播散非典型分枝杆菌感染。MSMD是一种遗传异质性疾病,具有常染色体隐性、常染色体显性或X连锁的遗传方式。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3460
ENSEMBL:ENSG00000159128
HGNC:5440
UNIPROT:P38484
OMIM:147569
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3460
2
7
34635 bp
37.81
228
2
7
14
IFNGR2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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