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The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]
CDKN2C (Cyclin Dependent Kinase Inhibitor 2C) is a Protein Coding gene. Diseases associated with CDKN2C include Multiple Endocrine Neoplasia, Type I and Oligodendroglioma. Among its related pathways are Transcriptional misregulation in cancer and E2F transcription factor network. Gene Ontology (GO) annotations related to this gene include protein kinase binding and cyclin-dependent protein serine/threonine kinase inhibitor activity. An important paralog of this gene is CDKN2D.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004861 | cyclin-dependent protein serine/threonine kinase inhibitor activity | IDA | 8001816 |
GO:0005515 | protein binding | IPI | 8840966 |
GO:0016301 | kinase activity | IEA | -- |
GO:0019901 | protein kinase binding | IPI | 8001816 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IDA | 11800646 |
GO:0005737 | cytoplasm | IDA | 11800646 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cyclins and Cell Cycle Regulation |
Cyclins and Cell Cycle Regulation
.67
G1-S Phase Transition
.67
|
.31
|
2 | Cellular Senescence (REACTOME) | ||
3 | Glioma | ||
4 | Cell Cycle, Mitotic |
.83
|
|
5 | Mitotic G1-G1/S phases |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000079 | regulation of cyclin-dependent protein serine/threonine kinase activity | IDA | 8001816 |
GO:0000082 | G1/S transition of mitotic cell cycle | IDA | 10208428 |
GO:0007049 | cell cycle | IEA | -- |
GO:0007050 | cell cycle arrest | IDA | 10208428 |
GO:0008285 | negative regulation of cell proliferation | IDA | 10208428 |
Compound | Action | Cas Number |
---|---|---|
AT7519 | Multi-CDK inhibitor | 844442-38-2 |
Kenpaullone | 142273-20-9 | |
ML167 | Clk4 inhibitor,highly selective | 1285702-20-6 |
Nu 6027 | ATR/CDK inhibitor, potent and selective | 220036-08-8 |
PHA-848125 | CDK inhibitor,potent and ATP-competitive | 802539-81-7 |
Purvalanol B | CDK1/CDK2/CDK4 inhibitor | 212844-54-7 |
R547 | CDK1/2/4 inhibitor,ATP-competitive | 741713-40-6 |
Ro 3306 | An ATP-competitive, potent CDK1 inhibitor | 872573-93-8 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CDKN2C 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CDKN2C 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CDKN2C 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cdkn2c 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cdkn2c 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CDKN2C 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CDKN2C 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CDKN2C 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cdkn2c 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cdkn2c 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
635370 | Not Provided: not provided | 50,970,498(+) | G/T | SPLICE_DONOR_VARIANT | |
800342 | Likely Pathogenic: Multiple myeloma | 50,973,993(+) | C/A | MISSENSE_VARIANT | |
rs771853517 | Breast cancer | p.Ala72Pro | |||
rs17851380 | - | p.Thr126Met |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1004803 | CNV | gain | 25217958 |
nsv546205 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
multiple endocrine neoplasia, type i |
|
|
oligodendroglioma |
|
|
parathyroid adenoma |
|
|
retinoblastoma |
|
|
anaplastic oligodendroglioma |
|