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cyclin-dependent kinase like 5

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Target not currently curated in GtoImmuPdb

Target id: 1986

Nomenclature: cyclin-dependent kinase like 5

Abbreviated Name: CdkL5

Family: Cyclin-dependent kinase-like (CDKL) family

Gene and Protein Information Click here for help
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 1030 Xp22.13 CDKL5 cyclin dependent kinase like 5
Mouse - 938 X 73.95 cM Cdkl5 cyclin-dependent kinase-like 5
Rat - - X Cdkl5 cyclin-dependent kinase-like 5
Previous and Unofficial Names Click here for help
EIEE2 | serine/threonine kinase 9 | STK9
Database Links Click here for help
Alphafold
BRENDA
ChEMBL Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Enzyme
KEGG Gene
OMIM
Orphanet
Pharos
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Enzyme Reaction Click here for help
EC Number: 2.7.11.22
Clinically-Relevant Mutations and Pathophysiology Click here for help
Disease:  Angelman syndrome
Disease Ontology: DOID:1932
OMIM: 105830
Disease:  Atypical Rett syndrome
Orphanet: ORPHA3095
References:  1
Disease:  Epileptic encephalopathy, early infantile, 2; EIEE2
Synonyms: Early infantile epileptic encephalopathy [Orphanet: ORPHA1934]
Infantile epileptic encephalopathy [Disease Ontology: DOID:2481]
Disease Ontology: DOID:2481
OMIM: 300672
Orphanet: ORPHA1934
Disease:  West syndrome
Disease Ontology: DOID:0050562
Orphanet: ORPHA3451

References

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1. Hagebeuk EE, van den Bossche RA, de Weerd AW. (2013) Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene. Dev Med Child Neurol, 55 (5): 480-4. [PMID:23151060]

How to cite this page

Cyclin-dependent kinase-like (CDKL) family: cyclin-dependent kinase like 5. Last modified on 29/01/2016. Accessed on 05/07/2022. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1986.