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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
CDKN2C - Cyclin Dependent Kinase Inhibitor 2C
Alias:
p18
INK4C
p18-INK4C
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是周期蛋白依赖性激酶抑制剂INK4家族的成员。这个蛋白质已被证明与CDK4或CDK6相互作用,防止CDK激酶的激活,从而作为控制细胞周期G1进展的细胞生长调节因子发挥作用。这个基因的异位表达被证明可以以似乎与野生型RB1功能存在相关的方式抑制人细胞生长。在敲除小鼠中的研究提示了这个基因在调节精母细胞发生以及抑制肿瘤发生中的作用。这个基因的两个可变剪接转录变异体,它们编码相同的蛋白质,已经被报道。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1031
ENSEMBL:ENSG00000123080
HGNC:1789
UNIPROT:P42773
OMIM:603369
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1031
2
2
5929 bp
18.13
6
1
4
9
CDKN2C 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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Regulation
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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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
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