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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
EGFL6 - EGF Like Domain Multiple 6
Alias:
W80
MAEG
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个表皮生长因子(EGF)重复超家族成员。这个超家族的成员以存在EGF样重复为特征,通常参与细胞周期、增殖和发育过程的调节。基因产物包含一个信号肽,提示它是分泌的;一个由4个完整的EGF样重复和1个部分EGF样重复组成的EGF重复区域,其中3个具有钙结合共识序列;一个arg-gly-asp整合素结合基序;和一个被认为具有粘附功能的MAM结构域。这个基因在发育早期表达,其表达在肺和脑膜瘤肿瘤中检测到。[由RefSeq,2008年7月提供]
Related ID:
NCBI:25975
ENSEMBL:ENSG00000198759
HGNC:3235
UNIPROT:Q8IUX8
OMIM:300239
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
25975
2
12
63975 bp
61.32
23
--
7
8
EGFL6 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
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No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Cell-specific RNA expression
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Type
Name
MGI
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CAS Number
Status
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Link
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References Literature
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IF
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