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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
EMC2 - ER Membrane Protein Complex Subunit 2
Alias:
TTC35
KIAA0103
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
对膜插入酶活性有贡献。参与通过停止转移膜锚定序列和尾锚定膜蛋白插入ER膜的蛋白质插入ER膜。位于内质网膜上。是内质网膜的外部成分。是EMC复合物的一部分。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:9694
ENSEMBL:ENSG00000104412
HGNC:28963
UNIPROT:Q15006
OMIM:607722
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9694
4
11
45573 bp
34.83
2
--
2
13
EMC2 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
Alphabetical
Interactions
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Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
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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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