Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1024
Gene name	Cyclin dependent kinase 8
Gene symbol	CDK8
Synonyms (NCBI Gene)	IDDHBAK35
Chromosome	13
Chromosome location	13q12.13
Summary	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 transcripti

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1565977796	C>A,T	Pathogenic	Intron variant, missense variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs1593218885	C>G	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs1593218890	G>A	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs1593310364	A>G	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (91)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001021	hsa-miR-26a-5p	Western blot	18713946
MIRT047736	hsa-miR-10a-5p	CLASH	23622248
MIRT041203	hsa-miR-193b-3p	CLASH	23622248
MIRT054138	hsa-miR-107	Luciferase reporter assayqRT-PCRWestern blot	25163571
MIRT054138	hsa-miR-107	Luciferase reporter assayqRT-PCRWestern blot	25163571
MIRT735543	hsa-miR-567	Luciferase reporter assayWestern blottingqRT-PCRFlow cytometry	33911969
MIRT737298	hsa-miR-592	Luciferase reporter assayWestern blotting	32945439
MIRT737298	hsa-miR-592	Luciferase reporter assayWestern blotting	32945439
MIRT756160	hsa-miR-26b-5p	Luciferase reporter assayWestern blottingqRT-PCR	37205919
MIRT881485	hsa-miR-548g	CLIP-seq
MIRT1961119	hsa-miR-101	CLIP-seq
MIRT1961120	hsa-miR-1273g	CLIP-seq
MIRT1961121	hsa-miR-1297	CLIP-seq
MIRT1961122	hsa-miR-144	CLIP-seq
MIRT1961123	hsa-miR-181a	CLIP-seq
MIRT1961124	hsa-miR-181b	CLIP-seq
MIRT1961125	hsa-miR-181c	CLIP-seq
MIRT1961126	hsa-miR-181d	CLIP-seq
MIRT1961127	hsa-miR-26a	CLIP-seq
MIRT1961128	hsa-miR-26b	CLIP-seq
MIRT1961129	hsa-miR-323b-5p	CLIP-seq
MIRT1961130	hsa-miR-3613-5p	CLIP-seq
MIRT1961131	hsa-miR-4262	CLIP-seq
MIRT1961132	hsa-miR-4465	CLIP-seq
MIRT2197890	hsa-miR-103a	CLIP-seq
MIRT2197891	hsa-miR-1179	CLIP-seq
MIRT2197892	hsa-miR-1184	CLIP-seq
MIRT2197893	hsa-miR-1243	CLIP-seq
MIRT1961121	hsa-miR-1297	CLIP-seq
MIRT2197894	hsa-miR-148a	CLIP-seq
MIRT2197895	hsa-miR-148b	CLIP-seq
MIRT2197896	hsa-miR-152	CLIP-seq
MIRT1961127	hsa-miR-26a	CLIP-seq
MIRT1961128	hsa-miR-26b	CLIP-seq
MIRT2197897	hsa-miR-3165	CLIP-seq
MIRT2197898	hsa-miR-3173-5p	CLIP-seq
MIRT2197899	hsa-miR-33a	CLIP-seq
MIRT2197900	hsa-miR-33b	CLIP-seq
MIRT2197901	hsa-miR-3654	CLIP-seq
MIRT2197902	hsa-miR-3688-3p	CLIP-seq
MIRT2197903	hsa-miR-4310	CLIP-seq
MIRT2197904	hsa-miR-4420	CLIP-seq
MIRT1961132	hsa-miR-4465	CLIP-seq
MIRT2197905	hsa-miR-4539	CLIP-seq
MIRT2197906	hsa-miR-4638-3p	CLIP-seq
MIRT2197907	hsa-miR-4677-3p	CLIP-seq
MIRT2197908	hsa-miR-4679	CLIP-seq
MIRT2197909	hsa-miR-4690-3p	CLIP-seq
MIRT2197910	hsa-miR-4709-5p	CLIP-seq
MIRT2197911	hsa-miR-4796-3p	CLIP-seq
MIRT2197912	hsa-miR-548p	CLIP-seq
MIRT2197913	hsa-miR-548t	CLIP-seq
MIRT2197914	hsa-miR-558	CLIP-seq
MIRT2197915	hsa-miR-562	CLIP-seq
MIRT2197916	hsa-miR-586	CLIP-seq
MIRT2197917	hsa-miR-622	CLIP-seq
MIRT2197918	hsa-miR-668	CLIP-seq
MIRT1961123	hsa-miR-181a	CLIP-seq
MIRT1961124	hsa-miR-181b	CLIP-seq
MIRT1961125	hsa-miR-181c	CLIP-seq
MIRT1961126	hsa-miR-181d	CLIP-seq
MIRT2446733	hsa-miR-27a	CLIP-seq
MIRT2446734	hsa-miR-27b	CLIP-seq
MIRT1961131	hsa-miR-4262	CLIP-seq
MIRT2446735	hsa-miR-4749-3p	CLIP-seq
MIRT2446736	hsa-miR-513a-5p	CLIP-seq
MIRT1961121	hsa-miR-1297	CLIP-seq
MIRT1961127	hsa-miR-26a	CLIP-seq
MIRT1961128	hsa-miR-26b	CLIP-seq
MIRT2197899	hsa-miR-33a	CLIP-seq
MIRT2197900	hsa-miR-33b	CLIP-seq
MIRT2197902	hsa-miR-3688-3p	CLIP-seq
MIRT2197904	hsa-miR-4420	CLIP-seq
MIRT1961132	hsa-miR-4465	CLIP-seq
MIRT2197905	hsa-miR-4539	CLIP-seq
MIRT2197912	hsa-miR-548p	CLIP-seq
MIRT2197915	hsa-miR-562	CLIP-seq
MIRT2197916	hsa-miR-586	CLIP-seq
MIRT2197917	hsa-miR-622	CLIP-seq
MIRT2197918	hsa-miR-668	CLIP-seq
MIRT1961121	hsa-miR-1297	CLIP-seq
MIRT1961127	hsa-miR-26a	CLIP-seq
MIRT1961128	hsa-miR-26b	CLIP-seq
MIRT2197899	hsa-miR-33a	CLIP-seq
MIRT2197900	hsa-miR-33b	CLIP-seq
MIRT2197904	hsa-miR-4420	CLIP-seq
MIRT1961132	hsa-miR-4465	CLIP-seq
MIRT2197905	hsa-miR-4539	CLIP-seq
MIRT2197916	hsa-miR-586	CLIP-seq
MIRT2197917	hsa-miR-622	CLIP-seq
MIRT2197918	hsa-miR-668	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000307	Component	Cyclin-dependent protein kinase holoenzyme complex	IDA	21806996
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	IMP	30905399
GO:0004672	Function	Protein kinase activity	TAS	7568034
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004693	Function	Cyclin-dependent protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	7568034, 15546612, 18794899, 19047373, 19914168, 20098423, 21806996, 23602568, 23746844, 25344755, 25416956, 26502155, 29568061, 29997244, 32707033, 32814053, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16109376
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	22869755
GO:0008353	Function	RNA polymerase II CTD heptapeptide repeat kinase activity	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016592	Component	Mediator complex	IDA	14638676
GO:0016592	Component	Mediator complex	IEA
GO:0016592	Component	Mediator complex	IMP	30905399
GO:0016740	Function	Transferase activity	IEA
GO:0032991	Component	Protein-containing complex	IDA	22869755
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15009212
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1990508	Component	CKM complex	IPI	19047373

MIM	HGNC	e!Ensembl
603184	1779	ENSG00000132964

P49336

Protein name

Cyclin-dependent kinase 8 (EC 2.7.11.22) (EC 2.7.11.23) (Cell division protein kinase 8) (Mediator complex subunit CDK8) (Mediator of RNA polymerase II transcription subunit CDK8) (Protein kinase K35)

Protein 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 R

PDB

3RGF , 4CRL , 4F6S , 4F6U , 4F6W , 4F70 , 4F7J , 4F7L , 4F7N , 4F7S , 4G6L , 5BNJ , 5CEI , 5FGK , 5HBE , 5HBH , 5HBJ , 5HNB , 5HVY , 5I5Z , 5ICP , 5IDN , 5IDP , 5XQX , 5XS2 , 6QTG , 6QTJ , 6R3S , 6T41 , 6TPA , 6Y0A , 8TQ2 , 8TQC , 8TQW , 9H8C , 9H8S

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	22 → 335	Protein kinase domain	Domain

Sequence

MDYDFKVKLSSERERVEDLFEYEGCKVGRGTYGHVYKAKRKDGKDDKDYALKQIEGTGIS
MSACREIALLRELKHPNVISLQKVFLSHADRKVWLLFDYAEHDLWHIIKFHRASKANKKP
VQLPRGMVKSLLYQILDGIHYLHANWVLHRDLKPANILVMGEGPERGRVKIADMGFARLF
NSPLKPLADLDPVVVTFWYRAPELLLGARHYTKAIDIWAIGCIFAELLTSEPIFHCRQED
IKTSNPYHHDQLDRIFNVMGFPADKDWEDIKKMPEHSTLMKDFRRNTYTNCSLIKYMEKH
KVKPDSKAFHLLQKLLTMDPIKRITSEQAMQDPYFLEDPLPTSDVFAGCQIPYPKREFLT
EEEPDDKGDKKNQQQQQGNNHTNGTGHPGNQDSSHTQGPPLKKVRVVPPTTTSGGLIMTS
DYQRSNPHAAYPNPGPSTSQPQSSMGYSATSQQPPQYSHQTHRY

Sequence length

464

Interactions

View interactions

	Reactome
			PPARA activates gene expression Generic Transcription Pathway SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants Transcriptional regulation of white adipocyte differentiation

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Complex neurodevelopmental disorder with or without congenital anomalies	Pathogenic	rs1565977796	RCV003994184
Intellectual developmental disorder with hypotonia and behavioral abnormalities	Likely pathogenic; Pathogenic	rs2137842716, rs2138050429, rs1565977796, rs1593218885, rs1593218890, rs1875421510, rs1593310364, rs1011754140, rs1875421918	RCV002464991 RCV002509898 RCV004555461 RCV000993854 RCV000993855 RCV000993856 RCV000993857 RCV000993858 RCV001262767 RCV001290425

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CDK8-related disorder	Uncertain significance; Likely benign; Benign	rs2542450009, rs1343109895, rs2542395043, rs17083996, rs191644469, rs1234935912, rs1266450534, rs140567276	RCV003404180 RCV003392933 RCV004731561 RCV003931357 RCV003909532 RCV003893660 RCV003937338 RCV003961539
Intellectual disability	Uncertain significance	rs762174167	RCV003994693

Show/Hide Text Mining Associations (44)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	31382571
Agenesis of Corpus Callosum	Associate	30905399
Bantu siderosis	Associate	18840782
Breast Neoplasms	Associate	24427329, 31382571, 33173974, 33291686, 33686962
Carcinogenesis	Associate	28416637
Carcinoma Hepatocellular	Associate	32354935
Carcinoma Non Small Cell Lung	Associate	25400821
Cardiomyopathy Dilated	Associate	38129817
Colorectal Neoplasms	Associate	18794899, 18794900, 19790197, 22104393, 22379099, 29117556, 29955133, 33291686
Deafness nephritis ano rectal malformation	Associate	30905399
Developmental Disabilities	Associate	30905399
Diabetes Mellitus Type 2	Associate	18840782
Epilepsy	Associate	40500968
Epstein Barr Virus Infections	Associate	16448567
Growth Hormone Secreting Pituitary Adenoma	Associate	36233050
Hearing Disorders	Associate	30905399
Heart Defects Congenital	Associate	30905399
Hypoxia	Associate	23746844
Inflammation	Associate	28151579
Intellectual Disability	Associate	30905399
Leiomyoma	Associate	27889101, 35418189, 35559861
Leukemia	Associate	32705162
Leukemia Myeloid Acute	Associate	31382571, 33291686
Melanoma	Associate	22379099
Mental Disorders	Associate	30905399
Microsatellite Instability	Associate	19790197
Motor Disorders	Associate	40500968
Multiple Myeloma	Associate	28151579
Nasopharyngeal Carcinoma	Associate	33577031
Neoplasms	Associate	16780590, 18794900, 19790197, 21352556, 22104393, 24427329, 28747658, 28824725, 28855340, 29117556, 31382571, 32354935, 32752128, 33291686, 33445730, 33654095 View all (1 more)
Neuroblastoma	Associate	36398965
Oncogene Addiction	Associate	23746844
Opitz Kaveggia syndrome	Associate	23091001
Osteosarcoma	Associate	22379099
Osteosarcoma	Inhibit	28416637
Pituitary Neoplasms	Associate	36233050
Post Infectious Disorders	Associate	16448567
Prostatic Neoplasms	Associate	31382571, 39253786
Seizures	Associate	30905399
Stomach Neoplasms	Associate	25163571
Tachycardia Atrioventricular Nodal Reentry	Associate	16780590
Thyroid cancer medullary	Associate	32945439
Triple Negative Breast Neoplasms	Associate	33291686
Urinary Bladder Neoplasms	Associate	16780590

CDK8 (cyclin dependent kinase 8)