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
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 Corneal Endothelial Dystrophy. Among its related pathways are Gene Expression and Innate Immune System. Gene Ontology (GO) annotations related to this gene include protein kinase activity. An important paralog of this gene is CDK12.
UniProtKB/Swiss-Prot 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
- Monarch Initiative
- Search for CDK13 at DataMed
- Search for CDK13 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDK13 Gene
Genomics for CDK13 Gene
GeneHancer (GH) Regulatory Elements for CDK13 Gene
Promoters and enhancers for CDK13 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around CDK13 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for CDK13 Gene
Genomic Locations for CDK13 Gene
- chr7:39,949,646-40,099,580
- (GRCh38/hg38)
- Size:
- 149,935 bases
- Orientation:
- Plus strand
- chr7:39,989,636-40,136,733
- (GRCh37/hg19)
Genomic View for CDK13 Gene
Genes around CDK13 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7p14.1 by Entrez Gene
- 7p14.1 by HGNC
- 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. Interacts with HIV-1 Tat.
- SequenceCaution:
-
- Sequence=AAA58424.1; Type=Frameshift; Positions=1006; Evidence={ECO:0000305}; Sequence=AAS07490.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for CDK13 Gene
Post-translational modifications for CDK13 Gene
Other Protein References for CDK13 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for CDK13
- Invitrogen Antibodies for CDK13
- GeneTex CDK13 Antibody for CDK13
-
Santa Cruz Biotechnology (SCBT) 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
- antibodies-online: Search results for 5 available CDK13 Proteins ranked by validation data
- Compare Top CDK13 Proteins
-
Quality Products:
- Search GeneTex for Proteins for CDK13
Assay Products
No data available for DME Specific Peptides for CDK13 Gene
Domains & Families for CDK13 Gene
Gene Families for CDK13 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for CDK13 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CDK13 Gene
- GenScript: Design optimal peptide antigens:
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:
- ATP + [DNA-directed RNA polymerase] = ADP + [DNA-directed RNA polymerase] phosphate.
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + a protein = ADP + a phosphoprotein.
Enzyme Numbers (IUBMB) for CDK13 Gene
Phenotypes From GWAS Catalog for CDK13 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | HDA | 22681889 |
| GO:0004672 | protein kinase activity | TAS,IEA | 1731328 |
| GO:0004674 | protein serine/threonine kinase activity | IEA | -- |
| GO:0004693 | cyclin-dependent protein serine/threonine kinase activity | IBA | -- |
| GO:0005515 | protein binding | IPI | 16721827 |
Phenotypes for CDK13 Gene
- GenomeRNAi human phenotypes for CDK13:
-
- Increased mitotic index
- Decreased viability
- Decreased substrate adherent cell growth
- Increased shRNA abundance (Z-score > 2)
- G0/1 arrest
- Increased G1 DNA content
- Effect on mitosis
- Dynamic nuclei (hole, folded or small irregular)
- Moderately decreased NFAT1-GFP nuclear translocation
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance
- Decreased shRNA abundance (Z-score < -2)
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Synthetic lethal with c-Myc after tamoxifen stimulation
- Decreased viability in esophageal squamous lineage
- Increased cell migration
- Decreased cell migration
- Increased cell viability after pRB stimulation
- no effect
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Mildly decreased CFP-tsO45G cell surface transport
Animal Model Products
-
Taconic Biosciences Mouse Models for CDK13
- Cyagen custom Knockout/knockin (KOKI) mouse models for CDK13
-
CRISPR Products
-
OriGene CRISPR knockouts for CDK13
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CDK13
- genomics-online: gRNA clones - Search results for 75 available CDK13 gene related products
- Overview of 75 available CDK13 gene related products
- Applied Biological Materials CRISPR for CDK13
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CDK13
- GenScript: Design CRISPR guide RNA sequences for CDK13
miRNA for CDK13 Gene
- miRTarBase miRNAs that target CDK13
-
- hsa-mir-133b (MIRT007125)
- hsa-mir-29b-2-5p (MIRT038713)
- 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
- genomics-online: shRNA clones - Search results for 75 available CDK13 gene related products
- Overview of 75 available CDK13 gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for CDK13
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CDK13
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CDK13
- Applied Biological Materials Clones for CDK13
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
No data available for Animal Models , 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 |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| cytosol | 5 |
| golgi apparatus | 5 |
- Nuclear speckles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002945 | cyclin K-CDK13 complex | IPI | 22012619 |
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005615 | extracellular space | HDA | 22664934 |
| GO:0005634 | nucleus | IBA,IEA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
Pathways & Interactions for CDK13 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Innate Immune System |
.61
|
|
| 2 | Gene Expression |
.48
|
|
| 3 | Formation of HIV-1 elongation complex containing HIV-1 Tat | ||
| 4 | Regulation of TP53 Activity | ||
Pathways by source for CDK13 Gene
1 GeneTex pathway for CDK13 Gene
7 Reactome pathways for CDK13 Gene
Interacting Proteins for CDK13 Gene
Selected Interacting proteins:
Q14004-CDK13_HUMAN
ENSP00000181839
for CDK13 Gene via
IID
MINT
UniProtKB
STRING
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 | -- |
| GO:0006397 | mRNA processing | IEA | -- |
| GO:0006468 | protein phosphorylation | IBA,IEA | -- |
| 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, Full agonist, Antagonist, Potentiation, Pore Blocker | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 |
|
Transcripts for CDK13 Gene
mRNA/cDNA for CDK13 Gene
- (280) Selected AceView cDNA sequences:
- (5) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (22) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000181839 10135 bps (uc003thh.5)
- ENST00000340829 5455 bps (uc003thi.5)
- ENST00000465643 2394 bps (uc064daf.1)
- ENST00000478563 904 bps (uc064dae.1)
- ENST00000484589 5166 bps (uc064dad.1)
Unigene Clusters for CDK13 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CDK13
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CDK13
- genomics-online: gRNA clones - Search results for 75 available CDK13 gene related products
- Overview of 75 available CDK13 gene related products
- Applied Biological Materials CRISPR for CDK13
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CDK13
- GenScript: Design CRISPR guide RNA sequences 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
- genomics-online: shRNA clones - Search results for 75 available CDK13 gene related products
- Overview of 75 available CDK13 gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for CDK13
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CDK13
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CDK13
- Applied Biological Materials Clones for CDK13
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression 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
NURSA nuclear receptor signaling pathways regulating expression of CDK13 Gene:
CDK13SOURCE 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
- Liver(4.3)
- Nervous system(4.3)
- Thyroid gland(4.2)
Primer Products
-
OriGene qPCR primer pairs for CDK13
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CDK13 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cdk13 16 34 33 |
|
||
| dog (Canis familiaris) |
Mammalia | CDK13 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Cdk13 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CDK13 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CDK13 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CDK13 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CDK13 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cdk13 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cdk13 34 |
|
OneToMany | |
| wufi49c05 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Cdk12 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | cdk-12 34 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CTK1 34 |
|
OneToMany | |
| corn (Zea mays) |
Liliopsida | Zm.1158 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10559 34 |
|
OneToMany |
- Species where no ortholog for CDK13 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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
Variants for CDK13 Gene
| SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057519632 | pathogenic, Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, not provided | 39,999,467(+) | G/A | coding_sequence_variant, missense_variant | |
| rs1057519633 | pathogenic, Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 39,999,458(+) | G/C | coding_sequence_variant, missense_variant | |
| rs1057519634 | pathogenic, Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 40,001,930(+) | G/A | coding_sequence_variant, missense_variant | |
| rs878853160 | pathogenic, Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, not provided, Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) [MIM:617360] | 40,046,007(+) | A/G | coding_sequence_variant, missense_variant | |
| VAR_078598 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) [MIM:617360] | p.Gly714Arg |
| 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
(4) MalaCards diseases for CDK13 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| congenital heart defects, dysmorphic facial features, and intellectual developmental disorder |
|
|
| corneal endothelial dystrophy |
|
|
| hypertelorism |
|
|
| neuroblastoma |
|
|
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
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 22 58
- 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 58
- 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 58
- 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 58
- 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 58
Products for CDK13 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CDK13
- Search Origene for MassSpec and Protein Over-expression Lysates for CDK13
- Origene Custom Protein Services for CDK13
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CDK13
- Browse OriGene Inhibitory RNA Products For CDK13
- OriGene qPCR primer pairs for CDK13
- OriGene CRISPR knockouts for CDK13
- OriGene ORF clones in human for CDK13
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CDK13
- GenScript: Next-day shipping of latest version cDNA ORF clones for CDK13 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for CDK13
- GenScript Custom Assay Services for CDK13
- GenScript Custom overexpressing Cell Line Services for CDK13
- GenScript: Design CRISPR guide RNA sequences for CDK13
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
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- Browse Sino Biological cDNA Clones
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- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for CDK13
- Novus Biologicals proteins and lysates for CDK13
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Taconic Biosciences Mouse Models for CDK13
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- VectorBuilder custom plasmid, inducible vectors for CDK13
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CDK13
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 41 available CDK13 Antibodies ranked by validation data
- Compare Top CDK13 Antibodies
- antibodies-online: Search results for available CDK13 related products ranked by validation data
- antibodies-online: Search results for 5 available CDK13 Proteins ranked by validation data
- Compare Top CDK13 Proteins
- Quality Products:
- GeneTex CDK13 Antibody for CDK13
- Search GeneTex for Proteins for CDK13
- Santa Cruz Biotechnology (SCBT) Antibodies for CDK13
- Search Santa Cruz Biotechnology (SCBT) for CDK13 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CDK13
- Horizon Cell Lines for CDK13
- genomics-online: cdna clones - Search results for 75 available CDK13 gene related products
- Overview of 75 available CDK13 gene related products
- orf clones - Search results for 75 available CDK13 gene related products
- Overview of 75 available CDK13 gene related products
- genomics-online: gRNA clones - Search results for 75 available CDK13 gene related products
- Overview of 75 available CDK13 gene related products
- genomics-online: primer clones - Search results for 75 available CDK13 gene related products
- Overview of 75 available CDK13 gene related products
- genomics-online: shRNA clones - Search results for 75 available CDK13 gene related products
- Overview of 75 available CDK13 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CDK13
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CDK13
- GeneCopoeia miRNA 3'UTR Target clone products for CDK13
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDK13
Sources for CDK13 Gene
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- (30) GeneAnnot
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- (36) SGD
- (37) FlyBase
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- (39) Pseudogene
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- (42) GenAtlas
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- (47) Atlas
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- (49) GenBank
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- (54) Leiden
- (55) miRBase
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- (68) Cloud-Clone Corp.
- (69) OCA
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- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
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