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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
External Ids for CDK13 Gene
- HGNC: 1733
- Entrez Gene: 8621
- Ensembl: ENSG00000065883
- OMIM: 603309
- UniProtKB: Q14004
Previous HGNC Symbols for CDK13 Gene
- CDC2L5
Previous GeneCards Identifiers for CDK13 Gene
- GC07P039957
- GC07P039875
- GC07P039950
- GC07P039954
- GC07P039983
Summaries 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 Gene Expression. 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.
Additional gene information for CDK13 Gene
- HGNC(1733)
- Entrez Gene(8621)
- Ensembl(ENSG00000065883)
- OMIM(603309)
- UniProtKB(Q14004)
- Open Targets Platform(ENSG00000065883)
- Monarch Initiative
- Search for CDK13 at DataMed
- Search for CDK13 at HumanCyc
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
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
Genomic Locations for CDK13 Gene
- chr7:39,949,664-40,099,580
- (GRCh38/hg38)
- Size:
- 149,917 bases
- Orientation:
- Plus strand
- chr7:39,989,636-40,136,733
- (GRCh37/hg19)
- 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:
-
- 7p14.1 by HGNC
- 7p14.1 by Entrez Gene
- 7p14.1 by Ensembl
CDK13 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CDK13 Gene
Proteins for CDK13 Gene
-
Protein details for CDK13 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q14004-CDK13_HUMAN
- Recommended name:
- Cyclin-dependent kinase 13
- Protein Accession:
- Q14004
- 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};
Protein Expression for CDK13 Gene
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
Other Protein References for CDK13 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ CD2L5 Antibody
- GeneTex Anti-CDC2L5 antibody
- Novus Biologicals Antibodies for CDK13
-
Abcam antibodies for CDK13
- Invitrogen Antibodies for CDK13 (AFLGC-Cdk13)
-
Boster Bio Antibodies for CDK13
-
Santa Cruz Biotechnology (SCBT) Antibodies for CDK13
- Sino Biological Antibodies for CDK13
Protein Products
-
OriGene Purified Proteins for CDK13
- Search Origene for MassSpec and Protein Over-expression Lysates for CDK13
- Origene Custom Protein Services for CDK13
- Novus Biologicals proteins for CDK13
- antibodies-online: Show 5 available CDK13 Proteins ranked by validation data
- Compare Top CDK13 Proteins
-
Quality Products:
-
Abcam proteins 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
Q14004UniProtKB/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.
Function for CDK13 Gene
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
| 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 |
Phenotypes for CDK13 Gene
- MGI mutant phenotypes for CDK13:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CDK13:
-
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Moderately decreased NFAT1-GFP nuclear translocation
- Decreased viability
- Synthetic lethal with Ras
- Increased G1 DNA content
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability in colon lineage
- Effect on mitosis
- Increased cell viability after pRB stimulation
- G0/1 arrest
- Decreased substrate adherent cell growth
- Synthetic lethal with c-Myc after tamoxifen stimulation
- Increased shRNA abundance (Z-score > 2)
- Increased cell migration
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Increased mitotic index
- Increased viability
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, decreased FA abundance, increased peripheral FA formation, increased cell elongation
Animal Models for CDK13 Gene
- MGI Knock Outs for CDK13:
-
- Cdk13 Cdk13<tm1b(EUCOMM)Hmgu>
Animal Model Products
-
Taconic Biosciences Mouse Models for CDK13
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CDK13 - Select products 50% OFF >
- * CDK13 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CDK13
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CDK13
-
Santa Cruz Biotechnology (SCBT) CRISPR for CDK13
miRNA for CDK13 Gene
- miRTarBase miRNAs that target CDK13
-
- hsa-miR-133b (MIRT007125)
- mmu-miR-26a-5p (MIRT011375)
- mmu-miR-149-5p (MIRT014677)
- mmu-miR-9-5p (MIRT015502)
- hsa-miR-29b-2-5p (MIRT038713)
- mmu-miR-129-5p (MIRT596014)
- mmu-miR-592-5p (MIRT596015)
- mmu-miR-669n (MIRT596016)
- mmu-miR-466n-5p (MIRT596017)
- mmu-miR-466l-5p (MIRT596018)
- mmu-miR-466k (MIRT596019)
- mmu-miR-466i-5p (MIRT596020)
- mmu-miR-466d-5p (MIRT596021)
- mmu-miR-30e-5p (MIRT596022)
- mmu-miR-384-5p (MIRT596023)
- mmu-miR-30c-5p (MIRT596024)
- mmu-miR-30a-5p (MIRT596025)
- mmu-miR-30b-5p (MIRT596026)
- mmu-miR-30d-5p (MIRT596027)
- hsa-miR-4659b-3p (MIRT640153)
- hsa-miR-4659a-3p (MIRT640154)
- hsa-miR-6875-3p (MIRT640155)
- hsa-miR-664b-3p (MIRT640156)
- hsa-miR-579-3p (MIRT640157)
- hsa-miR-5696 (MIRT640158)
- hsa-miR-664a-3p (MIRT640159)
- hsa-miR-30e-3p (MIRT720026)
- hsa-miR-30d-3p (MIRT720027)
- hsa-miR-30a-3p (MIRT720028)
- hsa-miR-8061 (MIRT720029)
- hsa-miR-4760-5p (MIRT720030)
- hsa-miR-6794-3p (MIRT720031)
- hsa-miR-376a-5p (MIRT720032)
- hsa-miR-372-5p (MIRT720033)
- hsa-miR-888-5p (MIRT720034)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CDK13
- Browse OriGene Inhibitory RNA Products For CDK13
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDK13
Clone Products
- Applied Biological Materials (abm): Clones for CDK13 - Select products 50% OFF >
- * CDK13 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CDK13
- Addgene plasmids for CDK13
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter 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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 4 |
| golgi apparatus | 4 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
- Nuclear speckles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000307 | cyclin-dependent protein kinase holoenzyme complex | IBA | 21873635 |
| GO:0000790 | nuclear chromatin | IBA | 21873635 |
| GO:0002945 | cyclin K-CDK13 complex | IPI | 22012619 |
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005615 | extracellular space | HDA | 22664934 |
Pathways & Interactions for CDK13 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Innate Immune System |
.61
|
|
| 2 | Gene Expression |
.48
|
|
| 3 | HIV Transcription Elongation | ||
| 4 | Regulation of TP53 Activity | ||
Pathways by source for CDK13 Gene
7 Reactome pathways for CDK13 Gene
1 GeneTex pathway for CDK13 Gene
Interacting Proteins for CDK13 Gene
Selected Interacting proteins:
Q14004-CDK13_HUMAN
ENSP00000181839
for CDK13 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CDK13
| 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 |
No data available for SIGNOR curated interactions for CDK13 Gene
Drugs & Compounds for CDK13 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
Transcripts for CDK13 Gene
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 :
-
- ENST00000181839 9525 nts (view in UCSC)
- ENST00000340829 5455 nts (view in UCSC)
- ENST00000643868 1901 nts (view in UCSC)
- ENST00000646039 4466 nts (view in UCSC)
- ENST00000643859 3838 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CDK13 - Select products 50% OFF >
- * CDK13 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CDK13
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CDK13
-
Santa Cruz Biotechnology (SCBT) CRISPR for CDK13
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CDK13
- Browse OriGene Inhibitory RNA Products For CDK13
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDK13
Clone Products
- Applied Biological Materials (abm): Clones for CDK13 - Select products 50% OFF >
- * CDK13 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CDK13
- Addgene plasmids for CDK13
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CDK13
| 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
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Thyroid (Endocrine System)
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.233552mRNA 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(4.3)
- Intestine(2.2)
- Skin(2.2)
Primer Products
-
OriGene qPCR primer pairs for CDK13
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CDK13 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CDK13 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Cdk13 30 17 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CDK13 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cdk13 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | CDK13 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CDK13 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CDK13 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CDK13 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cdk13 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | cdk13 31 |
|
OneToMany | |
| wufi49c05 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Cdk12 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | cdk-12 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CTK1 31 |
|
OneToMany | |
| Corn (Zea mays) |
Liliopsida | Zm.1158 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10559 31 |
|
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
Variants for CDK13 Gene
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 |
|---|---|---|---|---|---|
| 689751 | Likely Pathogenic: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 40,047,847(+) | G/A | MISSENSE_VARIANT | |
| 708669 | Benign: not provided | 39,999,442(+) | C/T | SYNONYMOUS_VARIANT | |
| 708927 | Likely Benign: not provided | 39,987,846(+) | G/T | MISSENSE_VARIANT | |
| 709063 | Likely Benign: not provided | 40,092,820(+) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
| 709785 | Benign: not provided | 39,988,058(+) | C/T | SYNONYMOUS_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDK13 Gene
Disorders for CDK13 Gene
(10) MalaCards diseases for CDK13 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| congenital heart defects, dysmorphic facial features, and intellectual developmental disorder |
|
|
| cdk13-related disorder |
|
|
| corneal endothelial dystrophy |
|
|
| corneal dystrophy, posterior polymorphous, 1 |
|
|
| white-sutton syndrome |
|
|
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 mutations affecting the gene represented in this entry.
Additional Disease Information for CDK13
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for CDK13 Gene
Publications for CDK13 Gene
- 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
- 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
- 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
- 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
- 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
Products for CDK13 Gene
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Sources for CDK13 Gene
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