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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
PALM2AKAP2 - PALM2 And AKAP2 Fusion
Alias:
AKAP2
MISP2
PALM2
PRKA2
AKAP-2
AKAPKL
AKAP-KL
PALM2-AKAP2
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Description
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于在PMID:22855693中定义的paralemmin下游基因(PDG)家族。Paralemmin下游基因可能与paralemmin基因连续进化,并与人类和其他几个分类群中的其他paralemmin同源基因相关联。该基因编码三种不同的蛋白质异构体,即PALM2异构体、AKAP2异构体和PALM2-AKAP2异构体。PALM2-AKAP2异构体的生物学意义尚不清楚。之前,PALM2和AKAP2被注释为独立的基因,而PALM2-AKAP2被注释为一个读穿基因。[由RefSeq,2019年5月提供]
Related ID:
NCBI:445815
ENSEMBL:ENSG00000157654
HGNC:33529
UNIPROT:Q8IXS6
OMIM:604582
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
445815
19
11
531726 bp
122.07
39
--
1
17
PALM2AKAP2 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
Mechanism
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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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