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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
CLK2 - CDC Like Kinase 2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个双特异性蛋白激酶,可以磷酸化含有丝氨酸/苏氨酸和酪氨酸的底物。这个蛋白质的活性可以调节剪接体复合物的富含丝氨酸和精氨酸(SR)的蛋白质,从而影响选择性转录剪接。染色体上的这个基因座与染色体19上的PAFAH1B3(血小板激活因子乙酰水解酶1b,催化亚基3(29kDa))基因之间已经描述了染色体易位,从而产生了融合蛋白。注意这个基因与TELO2基因(GeneID:9894)不同,后者共享CLK2别名,但编码的蛋白质参与端粒长度调节。这个基因在染色体7上有一个假基因。选择性剪接产生了多种转录变异体。[由RefSeq,2014年6月提供]
Related ID:
NCBI:1196
ENSEMBL:ENSG00000176444
HGNC:2069
UNIPROT:P49760
OMIM:602989
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1196
9
13
10637 bp
60.09
29
--
5
18
CLK2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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