cyclin-dependent kinase like 5 | Cyclin-dependent kinase-like (CDKL) family | IUPHAR/BPS Guide to PHARMACOLOGY

cyclin-dependent kinase like 5

Target id: 1986

Nomenclature: cyclin-dependent kinase like 5

Abbreviated Name: CdkL5

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

Annotation status:  image of a grey circle Awaiting annotation/under development. Please contact us if you can help with annotation.  » Email us

   GtoImmuPdb view: OFF :     Currently no data for cyclin-dependent kinase like 5 in GtoImmuPdb

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 1030 Xp22 CDKL5 cyclin dependent kinase like 5
Mouse - 938 X F4 Cdkl5 cyclin-dependent kinase-like 5
Rat - - X Cdkl5 cyclin-dependent kinase-like 5
Previous and Unofficial Names
EIEE2 | serine/threonine kinase 9 | STK9
Database Links
BRENDA
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Enzyme
KEGG Gene
OMIM
Orphanet
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Enzyme Reaction
EC Number: 2.7.11.22
Clinically-Relevant Mutations and Pathophysiology
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 18/11/2018. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1986.