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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
AP1S2 - Adaptor Related Protein Complex 1 Subunit Sigma 2
Alias:
PGS
DC22
MRX59
MRXS5
MRXSF
MRXS21
SIGMA1B
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
适配蛋白复合物1位于高尔基复合物的被覆囊泡的胞质面,在那里它调节clathrin到膜的招募和识别跨膜受体的胞质尾内的分类信号。这个复合物是一个异四聚体,由两个大、一个中和一个小的适配子亚基组成。这个基因编码的蛋白质作为这个复合物的小亚基,是适配子蛋白质家族的成员。已经发现这个基因的转录变体编码不同的异构体。[RefSeq,2013年1月提供]
Related ID:
NCBI:8905
ENSEMBL:ENSG00000182287
HGNC:560
UNIPROT:P56377
OMIM:300629
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8905
7
6
29008 bp
18.61
58
1
4
8
AP1S2 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
Regulation
Detail
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Target
Residues
Reference
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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