Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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23552 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Cyclin dependent kinase 20 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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CDK20 |
SynonymsGene synonyms aliases
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CCRK, CDCH, P42, PNQALRE |
ChromosomeChromosome number
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9 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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9q22.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene contains a kinase domain most closely related to the cyclin-dependent protein kinases. The encoded kinase may activate cyclin-dependent kinase 2 and is involved in cell growth. Alternatively spliced transcript variants enc |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs745561217 |
A>G |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, intron variant |
rs1057519438 |
C>G,T |
Pathogenic |
Intron variant, missense variant, coding sequence variant, stop gained, synonymous variant, non coding transcript variant |
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miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
|
Transcription factor |
Regulation |
Reference |
AR |
Activation |
21747169 |
AR |
Activation |
21747169 |
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q8IZL9 |
Protein name |
Cyclin-dependent kinase 20 (EC 2.7.11.22) (CDK-activating kinase p42) (CAK-kinase p42) (Cell cycle-related kinase) (Cell division protein kinase 20) (Cyclin-dependent protein kinase H) (Cyclin-kinase-activating kinase p42) |
Protein function |
Required for high-level Shh responses in the developing neural tube. Together with TBC1D32, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in resp |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00069 |
Pkinase |
4 → 288 |
Protein kinase domain |
Domain |
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Sequence |
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Sequence length |
346 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Attention deficit hyperactivity disorder |
Attention deficit hyperactivity disorder |
rs120074176, rs786205019 |
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Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 |
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Kidney disease |
Chronic Kidney Diseases |
rs74315342, rs749740335, rs757649673, rs112417755, rs35138315 |
29773874 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Obsessive-compulsive disorder |
Obsessive compulsive behavior |
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