CDK8 Chromosome 13
Cyclin dependent kinase 8
Upload your DNA to see your personal genotypes for variants in CDK8.
What This Gene Does
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]
Gene Info
Gene Group
"Cyclin dependent kinases|Mediator complex"
Locus Type
gene with protein product
Location
13q12.13
Ensembl
ENSG00000132964
Associated Conditions (3)
Intellectual developmental disorder with hypotonia and behavioral abnormalities
7 conditions
Complex neurodevelopmental disorder with or without congenital anomalies
Key Variants
RS1875422697
Conflicting classifications of pathogenicity
Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities
Health Risk
RS1011754140
Likely pathogenic
Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities
Health Risk
RS1565977796
Likely pathogenic
7 conditions, Intellectual developmental disorder with hypotonia and behavioral abnormalities, Complex neurodevelopmental disorder with or without congenital anomalies
Health Risk
RS1875421918
Likely pathogenic
Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities
Health Risk
RS2137842716
Likely pathogenic
Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities
Health Risk
RS2138050429
Likely pathogenic
Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities
Health Risk
RS1593218885
Pathogenic
Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities
Health Risk
RS1593218890
Pathogenic
Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities
Health Risk
RS1593310364
Pathogenic
Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities
Health Risk
RS1875421510
Pathogenic
Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1875422697 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities |
| RS1011754140 | Health Risk | Likely pathogenic | Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities |
| RS1565977796 | Health Risk | Likely pathogenic | 7 conditions, Intellectual developmental disorder with hypotonia and behavioral abnormalities, Complex neurodevelopmental disorder with or without congenital anomalies |
| RS1875421918 | Health Risk | Likely pathogenic | Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities |
| RS2137842716 | Health Risk | Likely pathogenic | Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities |
| RS2138050429 | Health Risk | Likely pathogenic | Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities |
| RS1593218885 | Health Risk | Pathogenic | Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities |
| RS1593218890 | Health Risk | Pathogenic | Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities |
| RS1593310364 | Health Risk | Pathogenic | Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities |
| RS1875421510 | Health Risk | Pathogenic | Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities |