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-termina... See more...

Aliases for CDK8 Gene

Aliases for CDK8 Gene

  • Cyclin Dependent Kinase 8 2 3 5
  • Cyclin-Dependent Kinase 8 2 3 4
  • Mediator Of RNA Polymerase II Transcription Subunit CDK8 3 4
  • Cell Division Protein Kinase 8 3 4
  • Mediator Complex Subunit CDK8 3 4
  • Protein Kinase K35 3 4
  • K35 2 3
  • CDK8 Protein Kinase 3
  • EC 2.7.11.22 4
  • EC 2.7.11.23 4
  • EC 2.7.11 50
  • IDDHBA 3
  • CDK8 5

External Ids for CDK8 Gene

Previous GeneCards Identifiers for CDK8 Gene

  • GC13P024808
  • GC13P020808
  • GC13P025758
  • GC13P024626
  • GC13P025726
  • GC13P026828
  • GC13P007646

Summaries for CDK8 Gene

Entrez Gene Summary for CDK8 Gene

  • 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]

GeneCards Summary for CDK8 Gene

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.

UniProtKB/Swiss-Prot Summary for CDK8 Gene

  • Component of the Mediator complex, a coactivator involved in regulated gene transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors. Phosphorylates the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAp II), which may inhibit the formation of a transcription initiation complex. Phosphorylates CCNH leading to down-regulation of the TFIIH complex and transcriptional repression. Recruited through interaction with MAML1 to hyperphosphorylate the intracellular domain of NOTCH, leading to its degradation.

Gene Wiki entry for CDK8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDK8 Gene

Genomics for CDK8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CDK8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J026253 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.3 1297 4.4 BCLAF1 SP1 ZNF207 MYC IKZF1 ZNF600 SIX5 ZNF592 POLR2A NFIC CDK8 RNF6 lnc-ATP8A2-4 WASF3
GH13J025300 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 -952.3 -952272 2.7 BCLAF1 SP1 MYC ZNF600 POLR2A CEBPA CHD4 YY1 CEBPB KLF11 NUP58 ENSG00000260509 lnc-ATP8A2-2 lnc-NUP58-1 CDK8 MTMR6 ATP8A2
GH13J026961 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.4 +712.9 712898 12 ZNF654 IKZF1 ZNF600 ZMYM3 ATF2 ZNF223 ZNF10 ATF3 ZSCAN16 ZIC2 RNU6-70P CDK8 MTIF3 POLR1D HSALNG0095902 lnc-RPL21-6 ENSG00000283579 USP12 GPR12
GH13J025899 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.3 -350.9 -350903 8 BCL11A SIN3A IRF4 CBFB BHLHE40 BATF BMI1 MTA3 ATF2 JUNB PABPC3 CDK8 piR-48553-095 HSALNG0095851 SHISA2 ATP8A2
GH13J026422 Enhancer 0.8 Ensembl ENCODE dbSUPER 8.2 +170.8 170796 4.2 BCL6 ATF4 ELF3 HLF PRDM10 NR2F2 CDK8 RF00994-266 HSALNG0095877 WASF3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDK8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDK8

Top Transcription factor binding sites by QIAGEN in the CDK8 gene promoter:
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • TBP

Genomic Locations for CDK8 Gene

Latest Assembly
chr13:26,254,104-26,405,238
(GRCh38/hg38)
Size:
151,135 bases
Orientation:
Plus strand

Previous Assembly
chr13:26,828,266-26,979,375
(GRCh37/hg19 by Entrez Gene)
Size:
151,110 bases
Orientation:
Plus strand

chr13:26,828,276-26,979,375
(GRCh37/hg19 by Ensembl)
Size:
151,100 bases
Orientation:
Plus strand

Genomic View for CDK8 Gene

Genes around CDK8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDK8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDK8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDK8 Gene

Proteins for CDK8 Gene

  • Protein details for CDK8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49336-CDK8_HUMAN
    Recommended name:
    Cyclin-dependent kinase 8
    Protein Accession:
    P49336
    Secondary Accessions:
    • Q5VUF3
    • Q6ISB5

    Protein attributes for CDK8 Gene

    Size:
    464 amino acids
    Molecular mass:
    53284 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. The cylin/CDK pair formed by CCNC/CDK8 also associates with the large subunit of RNA polymerase II. Interacts with CTNNB1, GLI3 and MAML1.

    Three dimensional structures from OCA and Proteopedia for CDK8 Gene

    Alternative splice isoforms for CDK8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDK8 Gene

Selected DME Specific Peptides for CDK8 Gene

P49336:
  • VLHRDLK
  • YRAPELLL

Post-translational modifications for CDK8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for CDK8 Gene

Gene Families for CDK8 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CDK8 Gene

GenScript: Design optimal peptide antigens:
  • Protein kinase K35 (CDK8_HUMAN)
  • Cyclin-dependent kinase 8 (Q64FY6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P49336

UniProtKB/Swiss-Prot:

CDK8_HUMAN :
  • Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
Family:
  • Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
genes like me logo Genes that share domains with CDK8: view

Function for CDK8 Gene

Molecular function for CDK8 Gene

UniProtKB/Swiss-Prot Function:
Component of the Mediator complex, a coactivator involved in regulated gene transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors. Phosphorylates the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAp II), which may inhibit the formation of a transcription initiation complex. Phosphorylates CCNH leading to down-regulation of the TFIIH complex and transcriptional repression. Recruited through interaction with MAML1 to hyperphosphorylate the intracellular domain of NOTCH, leading to its degradation.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.22; Evidence={ECO:0000269|PubMed:10993082};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.22; Evidence={ECO:0000269|PubMed:10993082};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[DNA-directed RNA polymerase] + ATP = ADP + H(+) + phospho-[DNA-directed RNA polymerase]; Xref=Rhea:RHEA:10216, Rhea:RHEA-COMP:11321, Rhea:RHEA-COMP:11322, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43176, ChEBI:CHEBI:68546, ChEBI:CHEBI:456216; EC=2.7.11.23; Evidence={ECO:0000269|PubMed:10993082};.

Enzyme Numbers (IUBMB) for CDK8 Gene

Phenotypes From GWAS Catalog for CDK8 Gene

Gene Ontology (GO) - Molecular Function for CDK8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA,IMP 30905399
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
genes like me logo Genes that share ontologies with CDK8: view
genes like me logo Genes that share phenotypes with CDK8: view

Human Phenotype Ontology for CDK8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CDK8 Gene

MGI Knock Outs for CDK8:
  • Cdk8 Cdk8<tm1b(EUCOMM)Hmgu>
  • Cdk8 Cdk8<tm1a(EUCOMM)Hmgu>

Animal Models for research

  • Taconic Biosciences Mouse Models for CDK8

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDK8

No data available for Transcription Factor Targets and HOMER Transcription for CDK8 Gene

Localization for CDK8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDK8 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDK8 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CDK8 Gene

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 IDA,IMP 30905399
GO:0032991 protein-containing complex IDA 22869755
genes like me logo Genes that share ontologies with CDK8: view

Pathways & Interactions for CDK8 Gene

genes like me logo Genes that share pathways with CDK8: view

Pathways by source for CDK8 Gene

1 Sino Biological pathway for CDK8 Gene
1 GeneGo (Thomson Reuters) pathway for CDK8 Gene
  • Transcription Ligand-Dependent Transcription of Retinoid-Target genes
1 R&D Systems pathway for CDK8 Gene
2 Qiagen pathways for CDK8 Gene
  • Cell Cycle Control of Chromosomal Replication
  • GADD45 Pathway
1 Cell Signaling Technology pathway for CDK8 Gene
1 GeneTex pathway for CDK8 Gene

SIGNOR curated interactions for CDK8 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for CDK8 Gene

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 --
genes like me logo Genes that share ontologies with CDK8: view

Drugs & Compounds for CDK8 Gene

(4) Drugs for CDK8 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

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 65
ATP Investigational Nutra 0

(1) Additional Compounds for CDK8 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
genes like me logo Genes that share compounds with CDK8: view

Transcripts for CDK8 Gene

mRNA/cDNA for CDK8 Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDK8

Alternative Splicing Database (ASD) splice patterns (SP) for CDK8 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c
SP1:
SP2:
SP3: -

Relevant External Links for CDK8 Gene

GeneLoc Exon Structure for
CDK8

Expression for CDK8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDK8 Gene

Protein differential expression in normal tissues from HIPED for CDK8 Gene

This gene is overexpressed in Adrenal (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDK8 Gene



Protein tissue co-expression partners for CDK8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDK8

SOURCE GeneReport for Unigene cluster for CDK8 Gene:

Hs.382306

Evidence on tissue expression from TISSUES for CDK8 Gene

  • Nervous system(2.9)
  • Intestine(2.5)
  • Liver(2.3)
  • Kidney(2.2)
  • Skin(2.2)
  • Heart(2.1)
  • Muscle(2.1)
  • Blood(2)
genes like me logo Genes that share expression patterns with CDK8: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDK8 Gene

Orthologs for CDK8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CDK8 Gene

Organism Taxonomy Gene Similarity Type Details
Oppossum
(Monodelphis domestica)
Mammalia CDK8 30
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia CDK8 29 30
  • 99.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CDK8 29 30
  • 97.05 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CDK8 30
  • 97 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CDK8 29 30
  • 95.99 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cdk8 29 16 30
  • 93.97 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cdk8 29
  • 93.68 (n)
Chicken
(Gallus gallus)
Aves CDK8 29 30
  • 91.72 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CDK8 30
  • 100 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cdk8 29
  • 85.99 (n)
MGC76204 29
Zebrafish
(Danio rerio)
Actinopterygii cdk8 29 30
  • 79.96 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009936 29
  • 71.04 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Cdk8 29 30 31
  • 69.58 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea cdk-8 29 30
  • 62.99 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SSN3 30 32
  • 28 (a)
OneToMany
Rice
(Oryza sativa)
Liliopsida Os.2989 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 81 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.10765 29
Species where no ortholog for CDK8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CDK8 Gene

ENSEMBL:
Gene Tree for CDK8 (if available)
TreeFam:
Gene Tree for CDK8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDK8: view image
Alliance of Genome Resources:
Additional Orthologs for CDK8

Paralogs for CDK8 Gene

(23) SIMAP similar genes for CDK8 Gene using alignment to 4 proteins:

  • CDK8_HUMAN
  • F5H6D4_HUMAN
  • Q64FY6_HUMAN
  • U4PPA3_HUMAN

Pseudogenes.org Pseudogenes for CDK8 Gene

genes like me logo Genes that share paralogs with CDK8: view

Variants for CDK8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDK8 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
805984 Pathogenic: Intellectual developmental disorder with hypotonia and behavioral abnormalities 26,385,274(+) T/G
NM_001260.3(CDK8):c.578T>G (p.Val193Gly)
MISSENSE
871513 Pathogenic: not provided 26,254,729(+) G/T
NM_001260.3(CDK8):c.88G>T (p.Gly30Cys)
MISSENSE_VARIANT,FIVE_PRIME_UTR
871514 Uncertain Significance: not provided 26,385,295(+) G/A
NM_001260.3(CDK8):c.599G>A (p.Arg200Gln)
MISSENSE
982990 Likely Pathogenic: Intellectual developmental disorder with hypotonia and behavioral abnormalities 26,382,836(+) T/C
NM_001260.3(CDK8):c.479T>C (p.Met160Thr)
MISSENSE_VARIANT,INTRON
996136 Likely Pathogenic: Intellectual developmental disorder with hypotonia and behavioral abnormalities 26,385,283(+) C/T
NM_001260.3(CDK8):c.587C>T (p.Thr196Ile)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CDK8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CDK8 Gene

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

Variation tolerance for CDK8 Gene

Residual Variation Intolerance Score: 20.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.25; 5.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDK8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDK8
Leiden Open Variation Database (LOVD)
CDK8

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDK8 Gene

Disorders for CDK8 Gene

MalaCards: The human disease database

(12) MalaCards diseases for CDK8 Gene - From: OMI, CVR, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search CDK8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CDK8_HUMAN
  • Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) [MIM:618748]: An autosomal dominant neurodevelopmental disorder with onset in infancy. IDDHBA is characterized by hypotonia, global developmental delay, learning disability, and behavioral abnormalities, such as autistic features and attention deficit-hyperactivity disorder. Additional variable features may include non-specific facial dysmorphism, congenital heart defects, ocular anomalies, and poor feeding. {ECO:0000269 PubMed:30905399}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CDK8

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CDK8: view

No data available for Genatlas for CDK8 Gene

Publications for CDK8 Gene

  1. Identification of human cyclin-dependent kinase 8, a putative protein kinase partner for cyclin C. (PMID: 7568034) Tassan JP … Nigg EA (Proceedings of the National Academy of Sciences of the United States of America 1995) 2 3 4 22
  2. De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. (PMID: 30905399) Calpena E … Wilkie AOM (American journal of human genetics 2019) 3 4 72
  3. Mastermind recruits CycC:CDK8 to phosphorylate the Notch ICD and coordinate activation with turnover. (PMID: 15546612) Fryer CJ … Jones KA (Molecular cell 2004) 3 4 22
  4. The structure of CDK8/CycC implicates specificity in the CDK/cyclin family and reveals interaction with a deep pocket binder. (PMID: 21806996) Schneider EV … Maskos K (Journal of molecular biology 2011) 3 4
  5. CDK8 is a positive regulator of transcriptional elongation within the serum response network. (PMID: 20098423) Donner AJ … Espinosa JM (Nature structural & molecular biology 2010) 3 22

Products for CDK8 Gene

  • Addgene plasmids for CDK8

Sources for CDK8 Gene