CDK13 Gene (Protein Coding)

Cyclin Dependent Kinase 13

GC07P040060
GIFtS:
42
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 not yet been determined, but it may play a role in mRNA processing and may be involved in regulation of hematopoiesis. Alterna... See more...

Aliases for CDK13 Gene

Aliases for CDK13 Gene

  • Cyclin Dependent Kinase 13 2 3 5
  • Cholinesterase-Related Cell Division Controller 2 3 4
  • CDC2L 2 3 4
  • CHED 2 3 4
  • Cell Division Cycle 2-Like Protein Kinase 5 3 4
  • Cell Division Protein Kinase 13 3 4
  • CDC2-Related Protein Kinase 5 3 4
  • Cyclin-Dependent Kinase 13 3 4
  • EC 2.7.11.22 4 51
  • KIAA1791 2 4
  • CDC2L5 3 4
  • HCDK13 3 4
  • Cell Division Cycle 2-Like 5 (Cholinesterase-Related Cell Division Controller) 2
  • EC 2.7.11.23 4
  • EC 2.7.11 51
  • CHDFIDD 3
  • CDK13 5

External Ids for CDK13 Gene

Previous HGNC Symbols for CDK13 Gene

  • CDC2L5

Previous GeneCards Identifiers for CDK13 Gene

  • GC07P039957
  • GC07P039875
  • GC07P039950
  • GC07P039954
  • GC07P039983
  • GC07P040020

Summaries for CDK13 Gene

Entrez Gene Summary for CDK13 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 not yet been determined, but it may play a role in mRNA processing and may be involved in regulation of hematopoiesis. Alternatively spliced transcript variants have been described.[provided by RefSeq, Dec 2009]

GeneCards Summary for CDK13 Gene

CDK13 (Cyclin Dependent Kinase 13) is a Protein Coding gene. Diseases associated with CDK13 include Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder and Cdk13-Related Disorder. Among its related pathways are Innate Immune System and Formation of HIV-1 elongation complex containing HIV-1 Tat. Gene Ontology (GO) annotations related to this gene include protein kinase activity. An important paralog of this gene is CDK12.

UniProtKB/Swiss-Prot Summary for CDK13 Gene

  • 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 acting as a key regulator of transcription elongation. Required for RNA splicing, probably by phosphorylating SRSF1/SF2. Required during hematopoiesis. In case of infection by HIV-1 virus, interacts with HIV-1 Tat protein acetylated at 'Lys-50' and 'Lys-51', thereby increasing HIV-1 mRNA splicing and promoting the production of the doubly spliced HIV-1 protein Nef.

Gene Wiki entry for CDK13 Gene

Additional gene information for CDK13 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDK13 Gene

Genomics for CDK13 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CDK13 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDK13 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDK13

Genomic Locations for CDK13 Gene

Latest Assembly
chr7:39,949,664-40,099,580
(GRCh38/hg38)
Size:
149,917 bases
Orientation:
Plus strand

Previous Assembly
chr7:39,989,855-40,139,179
(GRCh37/hg19 by Entrez Gene)
Size:
149,325 bases
Orientation:
Plus strand

chr7:39,989,636-40,136,733
(GRCh37/hg19 by Ensembl)
Size:
147,098 bases
Orientation:
Plus strand

Genomic View for CDK13 Gene

Genes around CDK13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDK13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDK13 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CDK13 Gene

Proteins for CDK13 Gene

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  • Protein details for CDK13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14004-CDK13_HUMAN
    Recommended name:
    Cyclin-dependent kinase 13
    Protein Accession:
    Q14004
    Secondary Accessions:
    • Q53G78
    • Q6DKQ9
    • Q75MH4
    • Q75MH5
    • Q96JN4
    • Q9H4A0
    • Q9H4A1
    • Q9UDR4

    Protein attributes for CDK13 Gene

    Size:
    1512 amino acids
    Molecular mass:
    164923 Da
    Quaternary structure:
    • Interacts with CCNL1 and CCNL2 (By similarity). Interacts with CCNK. Interacts with C1QBP.
    • (Microbial infection) Interacts with HIV-1 Tat.
    SequenceCaution:
    • Sequence=AAA58424.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAS07490.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CDK13 Gene

    Alternative splice isoforms for CDK13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDK13 Gene

Protein Expression for CDK13 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CDK13 Gene

Q14004:
  • YCHKKNFLHRDIKCSNIL
  • CGSPCPAVWPDVIKLPYFNTMKPKKQYRR
  • NMKEIVTDK
  • ELAQLELISR
  • FLHRDIK
  • EKEGFPITAIREIKIL
  • NEKEGFPITAIREIKILRQL
  • LADFGLA
  • VITLWYRPPELLLG
  • IDVWSCGCILGELF
  • SRSRHSSISP
  • WQDCHELWSKKRRRQ
  • DLPLPPELPGGD
  • FYLVFEYMDHDLMGLLESG
  • RPYTNKVITLWYRPPELLLGEERY
  • IGEGTYG

Post-translational modifications for CDK13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CDK13 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for CDK13
  • Santa Cruz Biotechnology (SCBT) Antibodies for CDK13

Domains & Families for CDK13 Gene

Gene Families for CDK13 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for CDK13 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CDK13 Gene

GenScript: Design optimal peptide antigens:
  • Cholinesterase-related cell division controller (CDK13_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14004

UniProtKB/Swiss-Prot:

CDK13_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 CDK13: view

Function for CDK13 Gene

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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for CDK13 Gene

UniProtKB/Swiss-Prot 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 acting as a key regulator of transcription elongation. Required for RNA splicing, probably by phosphorylating SRSF1/SF2. Required during hematopoiesis. In case of infection by HIV-1 virus, interacts with HIV-1 Tat protein acetylated at 'Lys-50' and 'Lys-51', thereby increasing HIV-1 mRNA splicing and promoting the production of the doubly spliced HIV-1 protein Nef.
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:20952539};.
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:20952539};.
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:20952539};.

Enzyme Numbers (IUBMB) for CDK13 Gene

Phenotypes From GWAS Catalog for CDK13 Gene

Gene Ontology (GO) - Molecular Function for CDK13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding HDA 22681889
GO:0004672 protein kinase activity IEA,TAS 1731328
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0004693 cyclin-dependent protein serine/threonine kinase activity IBA 21873635
genes like me logo Genes that share ontologies with CDK13: view
genes like me logo Genes that share phenotypes with CDK13: view

Human Phenotype Ontology for CDK13 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CDK13 Gene

MGI Knock Outs for CDK13:
  • Cdk13 Cdk13<tm1d(EUCOMM)Hmgu>
  • Cdk13 Cdk13<tm1b(EUCOMM)Hmgu>

Animal Models for research

  • Taconic Biosciences Mouse Models for CDK13

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDK13

No data available for Transcription Factor Targets and HOMER Transcription for CDK13 Gene

Localization for CDK13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDK13 Gene

Nucleus speckle.

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 CDK13 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
golgi apparatus 4
plasma membrane 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
  • Cytosol (1)
  • Golgi apparatus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDK13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000307 cyclin-dependent protein kinase holoenzyme complex IBA 21873635
GO:0000785 chromatin IBA --
GO:0002945 cyclin K-CDK13 complex IPI 22012619
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space HDA 22664934
genes like me logo Genes that share ontologies with CDK13: view

Pathways & Interactions for CDK13 Gene

genes like me logo Genes that share pathways with CDK13: view

Pathways by source for CDK13 Gene

1 GeneTex pathway for CDK13 Gene

Gene Ontology (GO) - Biological Process for CDK13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000380 alternative mRNA splicing, via spliceosome TAS 16721827
GO:0006368 transcription elongation from RNA polymerase II promoter IBA 21873635
GO:0006397 mRNA processing IEA --
GO:0006468 protein phosphorylation IEA,IBA 21873635
GO:0007088 regulation of mitotic nuclear division TAS 1731328
genes like me logo Genes that share ontologies with CDK13: view

No data available for SIGNOR curated interactions for CDK13 Gene

Drugs & Compounds for CDK13 Gene

Products:

  1. Drug products for research

(1) Drugs for CDK13 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra 0

(1) Additional Compounds for CDK13 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 CDK13: view

Transcripts for CDK13 Gene

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mRNA/cDNA for CDK13 Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
22 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 CDK13

Alternative Splicing Database (ASD) splice patterns (SP) for CDK13 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18
SP1: -
SP2: - - - -
SP3: - -
SP4:
SP5:
SP6:

Relevant External Links for CDK13 Gene

GeneLoc Exon Structure for
CDK13

Expression for CDK13 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDK13 Gene

mRNA expression in normal human tissues for CDK13 Gene
mRNA expression by BioGPS for CDK13 GenemRNA expression by GTEx for CDK13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CDK13 Gene

This gene is overexpressed in Tlymphocyte (29.5), Lung (11.6), and Blymphocyte (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDK13 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDK13

SOURCE GeneReport for Unigene cluster for CDK13 Gene:

Hs.233552

mRNA Expression by UniProt/SwissProt for CDK13 Gene:

Q14004-CDK13_HUMAN
Tissue specificity: Expressed in fetal brain, liver, muscle and in adult brain. Also expressed in neuroblastoma and glioblastoma tumors.

Evidence on tissue expression from TISSUES for CDK13 Gene

  • Nervous system(4.5)
  • Liver(4.4)
  • Thyroid gland(4.2)
  • Intestine(2.1)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with CDK13: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDK13 Gene

Orthologs for CDK13 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CDK13 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CDK13 30 31
  • 99.76 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CDK13 30 31
  • 93.91 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Cdk13 30 17 31
  • 92.58 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CDK13 31
  • 92 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cdk13 30
  • 91.83 (n)
Oppossum
(Monodelphis domestica)
 Mammalia CDK13 31
  • 70 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CDK13 31
  • 62 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CDK13 30 31
  • 79.42 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CDK13 31
  • 77 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cdk13 30
  • 67.06 (n)
Zebrafish
(Danio rerio)
 Actinopterygii cdk13 31
  • 53 (a)
 OneToMany
wufi49c05 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Cdk12 31
  • 33 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea cdk-12 31
  • 38 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes CTK1 31
  • 35 (a)
 OneToMany
Corn
(Zea mays)
 Liliopsida Zm.1158 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.10559 31
  • 54 (a)
 OneToMany
Species where no ortholog for CDK13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 CDK13 Gene

ENSEMBL:
Gene Tree for CDK13 (if available)
TreeFam:
Gene Tree for CDK13 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDK13: view image

Paralogs for CDK13 Gene

Paralogs for CDK13 Gene

(5) SIMAP similar genes for CDK13 Gene using alignment to 1 proteins:

  • CDK13_HUMAN
genes like me logo Genes that share paralogs with CDK13: view

Variants for CDK13 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDK13 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
841416 Uncertain Significance: not provided 40,088,278(+) G/A
NM_003718.5(CDK13):c.3182G>A (p.Gly1061Asp) 		MISSENSE
872220 Uncertain Significance: not provided 40,001,888(+) G/A
NM_003718.5(CDK13):c.2210G>A (p.Arg737His) 		MISSENSE
931782 Uncertain Significance: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 39,951,150(+) C/T
NM_003718.5(CDK13):c.509C>T (p.Ala170Val) 		MISSENSE
932284 Pathogenic: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 40,001,879(+) A/G
NM_003718.5(CDK13):c.2201A>G (p.Lys734Arg) 		MISSENSE
932285 Pathogenic: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 40,078,719(+) G/A
NM_003718.5(CDK13):c.2898-1G>A 		SPLICE_ACCEPTOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CDK13 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 CDK13 Gene

Variant ID Type Subtype PubMed ID
dgv11289n54 CNV gain 21841781
esv25464 CNV loss 19812545
esv2656647 CNV deletion 23128226
esv2666237 CNV deletion 23128226
esv2669384 CNV deletion 23128226
esv2734303 CNV deletion 23290073
esv2759525 CNV gain 17122850
esv2761319 CNV gain 21179565
esv3377666 CNV insertion 20981092
esv34547 CNV gain 17911159
esv3612919 CNV loss 21293372
esv3612920 CNV gain 21293372
esv3612921 CNV gain 21293372
nsv1015322 CNV gain 25217958
nsv1032278 CNV gain 25217958
nsv464436 CNV gain 19166990
nsv464437 CNV gain 19166990
nsv518849 CNV loss 19592680
nsv521293 CNV loss 19592680
nsv606709 CNV gain 21841781
nsv824080 CNV gain 20364138
nsv971193 CNV duplication 23825009

Variation tolerance for CDK13 Gene

Residual Variation Intolerance Score: 13.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.72; 78.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDK13 Gene

Human Gene Mutation Database (HGMD)
CDK13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDK13

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDK13 Gene

Disorders for CDK13 Gene

MalaCards: The human disease database

(10) MalaCards diseases for CDK13 Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

Disorder Aliases PubMed IDs
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
  • chdfidd
cdk13-related disorder
  • cdk13-related congenital heart defects, dysmorphic facial features, intellectual developmental disorder
corneal endothelial dystrophy
  • ched
corneal dystrophy, posterior polymorphous, 1
  • ppcd1
white-sutton syndrome
  • whsus
- elite association - COSMIC cancer census association via MalaCards
Search CDK13 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CDK13_HUMAN
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) [MIM:617360]: An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects, facial dysmorphism with hypertelorism, upslanted palpebral fissures, epicanthal folds, ptosis, strabismus, posteriorly rotated ears, thin upper lip, and small mouth. Patients manifest global developmental delay, delayed walking and speech acquisition, and intellectual disability. Some patients have mild microcephaly, a small cerebral cortex, and agenesis of corpus callosum. More variable features include clinodactyly and/or camptodactyly of the fingers, hypotonia, and joint hypermobility. {ECO:0000269 PubMed:27479907, ECO:0000269 PubMed:28807008}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CDK13

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 CDK13: view

No data available for Genatlas for CDK13 Gene

Publications for CDK13 Gene

  1. Cloning and antisense oligodeoxynucleotide inhibition of a human homolog of cdc2 required in hematopoiesis. (PMID: 1731328) Lapidot-Lifson Y … Soreq H (Proceedings of the National Academy of Sciences of the United States of America 1992) 2 3 4 23
  2. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. (PMID: 27479907) Sifrim A … Hurles ME (Nature genetics 2016) 3 4 74
  3. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. (PMID: 28807008) Bostwick BL … Lalani SR (Genome medicine 2017) 3 4
  4. The Cyclin K/Cdk12 complex maintains genomic stability via regulation of expression of DNA damage response genes. (PMID: 22012619) Blazek D … Peterlin BM (Genes & development 2011) 3 4
  5. CDK12 is a transcription elongation-associated CTD kinase, the metazoan ortholog of yeast Ctk1. (PMID: 20952539) Bartkowiak B … Greenleaf AL (Genes & development 2010) 3 4

ExternalLinks

View latest publications for CDK13 gene in Mastermind

Products for CDK13 Gene

  • Addgene plasmids for CDK13

Sources for CDK13 Gene