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This gene encodes a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are known to be important regulators of cell cycle progression. This kinase and its regulatory subunit, cyclin C, are components of the Mediator transcriptional regulatory complex, involved in both transcriptional activation and repression by phosphorylation of the carboxy-terminal domain of the largest subunit of RNA polymerase II. This kinase regulates transcription by targeting the cyclin-dependent kinase 7 subunits of the general transcription initiation factor IIH, thus providing a link between the Mediator complex and the basal transcription machinery. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
CDK8 (Cyclin Dependent Kinase 8) is a Protein Coding gene. Diseases associated with CDK8 include Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities and Ebstein Anomaly. Among its related pathways are Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is CDK19.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0004672 | protein kinase activity | IEA,TAS | 7568034 |
GO:0004674 | protein serine/threonine kinase activity | IEA | -- |
GO:0004693 | cyclin-dependent protein serine/threonine kinase activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 7568034 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IDA | 16109376 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005730 | nucleolus | IDA | 22869755 |
GO:0016592 | mediator complex | IEA,IDA | 14638676 |
GO:0032991 | protein-containing complex | IDA | 22869755 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by NOTCH1 | ||
2 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
3 | Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer | ||
4 | HIV Life Cycle |
.45
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5 | Gene Expression |
.48
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006367 | transcription initiation from RNA polymerase II promoter | TAS | -- |
GO:0006468 | protein phosphorylation | IEA,IBA | 21873635 |
GO:0016310 | phosphorylation | IEA | -- |
GO:0045944 | positive regulation of transcription by RNA polymerase II | TAS | -- |
GO:0051726 | regulation of cell cycle | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
Alvocidib | Experimental, Investigational | Pharma | Target, inhibitor | Pan-cdk inhibitor, Kinase Inhibitors | 64 | |
ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | · | 13c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||
SP3: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Oppossum (Monodelphis domestica) |
Mammalia | CDK8 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | CDK8 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CDK8 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CDK8 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CDK8 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cdk8 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cdk8 30 |
|
||
Chicken (Gallus gallus) |
Aves | CDK8 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CDK8 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cdk8 30 |
|
||
MGC76204 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | cdk8 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009936 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Cdk8 30 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | cdk-8 30 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SSN3 31 33 |
|
OneToMany | |
Rice (Oryza sativa) |
Liliopsida | Os.2989 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.10765 30 |
|
SNP ID | Clinical significance and condition | Chr 13 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
805981 | Pathogenic: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES | 26,337,623(+) | C/T | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
805982 | Pathogenic: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES | 26,254,726(+) | C/G | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
805983 | Pathogenic: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES | 26,254,729(+) | G/A | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
805985 | Pathogenic: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES | 26,393,389(+) | A/G | MISSENSE_VARIANT | |
871513 | Pathogenic: not provided | 26,254,729(+) | G/T | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3304269 | CNV | mobile element insertion | 20981092 |
esv3360510 | CNV | insertion | 20981092 |
esv3361608 | CNV | insertion | 20981092 |
esv3631600 | CNV | loss | 21293372 |
nsv1138203 | CNV | deletion | 24896259 |
nsv561357 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
intellectual developmental disorder with hypotonia and behavioral abnormalities |
|
|
ebstein anomaly |
|
|
diaphragmatic hernia, congenital |
|
|
hydrocephalus, congenital, 1 |
|
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colorectal adenocarcinoma |
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