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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
IFITM5 - Interferon Induced Transmembrane Protein 5
Alias:
OI5
BRIL
DSPA1
Hrmp1
fragilis4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种膜蛋白,被认为在骨骼矿化中起作用。这个基因位于染色体11上一个由干扰素诱导的相关基因簇中,然而这个基因没有被证明是干扰素诱导的。一个类似的基因,位于小鼠染色体7上的一个基因簇中,是干扰素诱导的脆弱基因家族的成员。小鼠基因编码一种描述为参与生殖细胞能力的跨膜蛋白。这个基因的5'UTR的突变与骨发育不全第五型有关(PMID: 22863190, 22863195)。[由RefSeq,2012年8月提供]
Related ID:
NCBI:387733
ENSEMBL:ENSG00000206013
HGNC:16644
UNIPROT:A6NNB3
OMIM:614757
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
387733
1
2
1327 bp
14.38
124
3
3
5
IFITM5 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
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No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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