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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. Alternatively spliced transcript variants have been described.[provided by RefSeq, Dec 2009]
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.
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 |
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 |
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 |
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 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
ATP | Investigational | Nutra | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
58-64-0 |
|
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: |
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 |
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 |
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 |
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 |
|
|