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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1024
Gene name Gene Name - the full gene name approved by the HGNC.	Cyclin dependent kinase 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CDK8
Synonyms (NCBI Gene) Gene synonyms aliases	IDDHBA, K35
Disease Acronyms (UniProt) Disease acronyms from UniProt database	IDDHBA
Chromosome Chromosome number	13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	13q12.13
Summary Summary of gene provided in NCBI Entrez 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 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 assay, qRT-PCR, Western blot	25163571
MIRT054138	hsa-miR-107	Luciferase reporter assay, qRT-PCR, Western blot	25163571
MIRT735543	hsa-miR-567	Luciferase reporter assay, Western blotting, qRT-PCR, Flow cytometry	33911969
MIRT737298	hsa-miR-592	Luciferase reporter assay, Western blotting	32945439
MIRT737298	hsa-miR-592	Luciferase reporter assay, Western blotting	32945439
MIRT756160	hsa-miR-26b-5p	Luciferase reporter assay, Western blotting, qRT-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(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004672	Function	Protein kinase activity	IMP	30905399
GO:0004693	Function	Cyclin-dependent protein serine/threonine kinase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	7568034, 15546612, 18794899, 19047373, 19914168, 20098423, 21806996, 23602568, 23746844, 25344755, 25416956, 26502155, 29568061, 29997244
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	16109376
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	22869755
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	TAS
GO:0006468	Process	Protein phosphorylation	IBA	21873635
GO:0008353	Function	RNA polymerase II CTD heptapeptide repeat kinase activity	IBA	21873635
GO:0016592	Component	Mediator complex	IBA	21873635
GO:0016592	Component	Mediator complex	IDA	14638676
GO:0016592	Component	Mediator complex	IMP	30905399
GO:0032991	Component	Protein-containing complex	IDA	22869755
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	TAS
GO:0051726	Process	Regulation of cell cycle	IEA

MIM	HGNC	e!Ensembl
603184	1779	ENSG00000132964

Protein

UniProt ID

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 (6)

Disease term	Disease name	dbSNP ID	References
Causal
Colorectal cancer	Adenocarcinoma of large intestine	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800 View all (467 more)
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	rs121908602, rs121908604, rs864309713, rs775394591
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)	30905399
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	30905399
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Pituitary adenoma	Pituitary Adenoma	rs5030861, rs104894194, rs121908356, rs121908347, rs727502931, rs121908348, rs121908349, rs111033271, rs121908351, rs121917839, rs121917840, rs587776681, rs193922688, rs121917841, rs587776682 View all (75 more)	26029870

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Coronary artery disease	Coronary artery disease	GWAS
Oligodendroglioma	Oligodendroglioma	GWAS
Dyslexia	Dyslexia	GWAS

Show/Hide Text Mining Associations (44)

Disease Name	Relationship Type	References
Associations from Text Mining
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)