protein
Cyclin-dependent kinase-like 5
Gene
CDKL5
Organism
Homo sapiens(9606)
Length
960 aa
Mass
107,519 Da
Cyclin-dependent kinase-like 5 (CDKL5) is a serine/threonine kinase that mediates phosphorylation of methyl-CpG-binding protein 2 (MECP2) and may regulate ciliogenesis (UniProt: O76039). The protein is 960 amino acids in length and is conserved across human tissues involved in neural development and function.
CDKL5 mutations cause developmental and epileptic encephalopathy 2 (DEE2), a severe infantile-onset epilepsy with features resembling Rett syndrome, including microcephaly, absent speech development, and stereotypic hand movements, though DEE2 and Rett syndrome are classified as distinct entities (UniProt: O76039).
CDKL5 is classified as a syndromic autism-associated gene (SFARI Cat S), indicating established disease causality with autism as a significant clinical feature. Pathogenic variants in CDKL5 are recognized contributors to syndromic autism spectrum disorder presentations, particularly in the context of early infantile epileptic encephalopathy.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
Mediates phosphorylation of MECP2 (PubMed:15917271, PubMed:16935860). May regulate ciliogenesis (PubMed:29420175)
Disease associations
Developmental and epileptic encephalopathy 2DEE2
A severe form of epilepsy characterized by seizures or spasms beginning in infancy. Patients with epileptic encephalopathy early infantile type 2 manifest features resembling Rett syndrome such as microcephaly, lack of speech development, stereotypic hand movements. However, DEE2 and Rett syndrome are considered two distinct entities.
Sources
Last updated 5/6/2026, 5:25:00 AM