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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
IRF4 - Interferon Regulatory Factor 4
Alias:
MUM1
LSIRF
SHEP8
NF-EM5
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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属于IRF(干扰素调节因子)家族转录因子,其特征是具有独特的色氨酸五重复DNA结合域。IRF家族在调节干扰素以响应病毒感染以及调节干扰素诱导的基因中起着重要作用。这个家族成员是淋巴细胞特异性的,并负调控Toll-like受体(TLR)信号传导,这是激活先天和适应性免疫系统的关键。涉及这个基因和IgH位点的染色体易位,t(6;14)(p25;q32),可能是多发性骨髓瘤的一个原因。已经发现这个基因的替代剪接转录变异体。[RefSeq,2010年8月提供]
Related ID:
NCBI:3662
ENSEMBL:ENSG00000137265
HGNC:6119
UNIPROT:Q15306
OMIM:601900
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3662
4
9
19692 bp
51.77
195
2
11
10
IRF4 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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Link
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References Literature
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