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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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人类
MIA2 - MIA SH3 Domain ER Export Factor 2
Alias:
MEA6
MGEA
TALI
MGEA6
CTAGE5
MGEA11
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码内质网中的受体,参与大粒前乳糜粒和前极低密度脂蛋白(前VLDLs)的输出。这个基因产生了三种主要类型的转录本-黑素瘤抑制活性2特异性的转录本,cTAGE家族成员5特异性的转录本,以及包含这两种转录本物种的外显子的转录本(TANGO1样或TALI)。此外,这些转录本中的可选剪接导致编码多种异型体的多种转录变异体。[由RefSeq,2016年9月提供]
Related ID:
NCBI:4253
ENSEMBL:ENSG00000150527
HGNC:18432
UNIPROT:Q96PC5
OMIM:602132
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4253
60
29
154608 bp
159.84
43
--
5
16
MIA2 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)
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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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Acting
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Type
Name
MGI
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Mutations
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Status
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Link
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References Literature
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IF
No Data Found!
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