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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
TOR2A - Torsin Family 2 Member A
Alias:
TORP1
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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AAA家族的三磷酸腺苷酶成员,与Clp蛋白酶和热休克蛋白相似。该基因座处的替代剪接导致编码的蛋白质的多个异构体的翻译,其中一些在C端区域含有salusin肽。这些肽可能在低血压、心肌生长和细胞有丝分裂诱导中发挥作用,也可能参与动脉粥样硬化病理的发生。抗菌肽salusin-beta具有抗菌活性。[由RefSeq,2014年11月提供]
Related ID:
NCBI:27433
ENSEMBL:ENSG00000160404
HGNC:11996
UNIPROT:Q5JU69
OMIM:608052
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
27433
10
5
3771 bp
35.71
20
--
2
6
TOR2A 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
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Cell-specific RNA expression
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Interactions
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Acting
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Related Mouse Models
Type
Name
MGI
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
Year
IF
No Data Found!
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