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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
AK2 - Adenylate Kinase 2
Alias:
ADK2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
腺苷酸激酶参与调节细胞内腺苷核苷酸组成,通过催化腺苷核苷酸之间磷酸基团的可逆转移。在脊椎动物中已鉴定出三种腺苷酸激酶同工酶,即1、2和3;该基因编码同工酶2。这些同工酶的表达具有组织特异性和发育调控性。同工酶2定位于线粒体膜间隙,可能在细胞凋亡中发挥作用。该基因的突变是网状发育不良的原因。该基因的可变剪接导致多种转录变体。该基因的假基因位于1号和2号染色体上。[由RefSeq提供,2010年11月]
Related ID:
NCBI:204
ENSEMBL:ENSG00000004455
HGNC:362
UNIPROT:P54819
OMIM:103020
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
204
8
6
28944 bp
26.48
175
3
5
16
AK2 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
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Reference
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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