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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
LEMD2 - LEM Domain Nuclear Envelope Protein 2
Alias:
LEM2
NET25
MARUPS
CTRCT42
dJ482C21.1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个含有LEM结构域的内核膜跨膜蛋白。该蛋白参与核结构组织,并在细胞信号传导和分化中发挥作用。这个基因的突变导致46型白内障,青少年发病。已发现这个基因的多种转录变异体。[RefSeq提供,2017年2月]
Related ID:
NCBI:221496
ENSEMBL:ENSG00000161904
HGNC:21244
UNIPROT:Q8NC56
OMIM:616312
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
221496
6
9
17918 bp
56.98
56
5
11
19
LEMD2 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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Residues
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Score
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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