Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8621
Gene name Gene Name - the full gene name approved by the HGNC.
Cyclin dependent kinase 13
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDK13
Synonyms (NCBI Gene) Gene synonyms aliases
CDC2L, CDC2L5, CHDFIDD, CHED, hCDK13
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p14.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. The exact function of this protein has n
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs878853160 A>G Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs1057519632 G>A Pathogenic Missense variant, coding sequence variant
rs1057519633 G>C Pathogenic Missense variant, coding sequence variant
rs1057519634 G>A Pathogenic Missense variant, coding sequence variant
rs1064795731 A>G Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT007125 hsa-miR-133b Luciferase reporter assay 23451058
MIRT007125 hsa-miR-133b Luciferase reporter assay 23451058
MIRT038713 hsa-miR-29b-2-5p CLASH 23622248
MIRT720034 hsa-miR-888-5p HITS-CLIP 19536157
MIRT720033 hsa-miR-372-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000307 Component Cyclin-dependent protein kinase holoenzyme complex IEA
GO:0000380 Process Alternative mRNA splicing, via spliceosome IEA
GO:0000380 Process Alternative mRNA splicing, via spliceosome ISS
GO:0000380 Process Alternative mRNA splicing, via spliceosome TAS 16721827
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603309 1733 ENSG00000065883
Protein
UniProt ID Q14004
Protein name Cyclin-dependent kinase 13 (EC 2.7.11.22) (EC 2.7.11.23) (CDC2-related protein kinase 5) (Cell division cycle 2-like protein kinase 5) (Cell division protein kinase 13) (hCDK13) (Cholinesterase-related cell division controller)
Protein function Cyclin-dependent kinase which displays CTD kinase activity and is required for RNA splicing. Has CTD kinase activity by hyperphosphorylating the C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit RPB1, thereby a
PDB 5EFQ , 7NXJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 705 998 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in fetal brain, liver, muscle and in adult brain. Also expressed in neuroblastoma and glioblastoma tumors.
Sequence
MPSSSDTALGGGGGLSWAEKKLEERRKRRRFLSPQQPPLLLPLLQPQLLQPPPPPPPLLF
LAAPGTAAAAAAAAAASSSCFSPGPPLEVKRLARGKRRAGGRQKRRRGPRAGQEAEKRRV
FSLPQPQQDGGGGASSGGGVTPLVEYEDVSSQSEQGLLLGGASAATAATAAGGTGGSGGS
PASSSGTQRRGEGSERRPRRDRRSSSGRSKERHREHRRRDGQRGGSEASKSRSRHSHSGE
ERAEVAKSGSSSSSGGRRKSASATSSSSSSRKDRDSKAHRSRTKSSKEPPSAYKEPPKAY
REDKTEPKAYRRRRSLSPLGGRDDSPVSHRASQSLRSRKSPSPAGGGSSPYSRRLPRSPS
PYSRRRSPSYSRHSSYERGGDVSPSPYSSSSWRRSRSPYSPVLRRSGKSRSRSPYSSRHS
RSRSRHRLSRSRSRHSSISPSTLTLKSSLAAELNKNKKARAAEAARAAEAAKAAEATKAA
EAAAKAAKASNTSTPTKGNTETSASASQTNHVKDVKKIKIEHAPSPSSGGTLKNDKAKTK
PPLQVTKVENNLIVDKATKKAVIVGKESKSAATKEESVSLKEKTKPLTPSIGAKEKEQHV
ALVTSTLPPLPLPPMLPEDKEADSLRGNISVKAVKKEVEKKLRCLLADLPLPPELPGGDD
LSKSPEEKKTATQLHSKRRPKICGPRYGETKEKDIDWGKRCVDKFDIIGIIGEGTYGQVY
KARDKDTGEMVALKKVRLDNEKEGFPITAIREIKILRQLTHQSIINMKEIVTDKEDALDF
KKDKGAFYLVFEYMDHDLMGLLESGLVHFNENHIKSFMRQLMEGLDYCHKKNFLHRDIKC
SNILLNNRGQIKLADFGLARLYSSEESRPYTNKVITLWYRPPELLLGEERYTPAIDVWSC
GCILGELFTKKPIFQANQELAQLELISRICGSPCPAVWPDVIKLPYFNTMKPKKQYRRKL
REEFVFIPAAALDLFDYMLALDPSKRCTAEQALQCEFL
RDVEPSKMPPPDLPLWQDCHEL
WSKKRRRQKQMGMTDDVSTIKAPRKDLSLGLDDSRTNTPQGVLPSSQLKSQGSSNVAPVK
TGPGQHLNHSELAILLNLLQSKTSVNMADFVQVLNIKVNSETQQQLNKINLPAGILATGE
KQTDPSTPQQESSKPLGGIQPSSQTIQPKVETDAAQAAVQSAFAVLLTQLIKAQQSKQKD
VLLEERENGSGHEASLQLRPPPEPSTPVSGQDDLIQHQDMRILELTPEPDRPRILPPDQR
PPEPPEPPPVTEEDLDYRTENQHVPTTSSSLTDPHAGVKAALLQLLAQHQPQDDPKREGG
IDYQAGDTYVSTSDYKDNFGSSSFSSAPYVSNDGLGSSSAPPLERRSFIGNSDIQSLDNY
STASSHSGGPPQPSAFSESFPSSVAGYGDIYLNAGPMLFSGDKDHRFEYSHGPIAVLANS
SDPSTGPESTHPLPAKMHNYNYGGNLQENPSGPSLMHGQTWTSPAQGPGYSQGYRGHIST
STGRGRGRGLPY
Sequence length 1512
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    TP53 Regulates Transcription of DNA Repair Genes
Neutrophil degranulation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder congenital heart defects, dysmorphic facial features, and intellectual developmental disorder rs1064796451, rs1405252481, rs1554317002, rs1554333853, rs1562722163, rs878853160, rs1584035995, rs1583893433, rs1057519632, rs1583972803, rs1057519633, rs1064795731 N/A
autism spectrum disorder Autism spectrum disorder rs1057519632 N/A
Developmental Delay global developmental delay rs878853160 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or gastroesophageal reflux disease N/A N/A GWAS
Mental retardation syndromic intellectual disability N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Agenesis of Corpus Callosum Associate 29021403
Alcohol Related Disorders Associate 35063350
Anemia Refractory Associate 19692701
Apraxias Associate 36599938
Axenfeld Rieger syndrome Associate 37895297
Bicuspid Aortic Valve Disease Associate 33879837
Brachydactyly type A3 Associate 33879837
Breast Neoplasms Associate 33292020, 33686962, 35938508
Carcinoma Hepatocellular Associate 29996118
Chordoma Associate 30664779