CDKL5 (cyclin dependent kinase like 5)

2006-10-01  

Identity

HGNC
LOCATION
Xp22.13
LOCUSID
ALIAS
CFAP247,DEE2,EIEE2,ISSX,STK9
FUSION GENES

Other Information

Locus ID:

NCBI: 6792
MIM: 300203
HGNC: 11411
Ensembl: ENSG00000008086

Variants:

dbSNP: 6792
ClinVar: 6792
TCGA: ENSG00000008086
COSMIC: CDKL5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000008086ENST00000379989O76039
ENSG00000008086ENST00000379996O76039
ENSG00000008086ENST00000463994A0A096LNR9
ENSG00000008086ENST00000623364A0A096LPG3
ENSG00000008086ENST00000623535O76039
ENSG00000008086ENST00000624700A0A096LP32
ENSG00000008086ENST00000624953A0A096LPI4
ENSG00000008086ENST00000635828A0A1B0GUM4
ENSG00000008086ENST00000637881A0A1B0GTX4

Expression (GTEx)

0
5
10
15

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
154929252004Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.109
159172712005CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.84
229227122012CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.78
187908212008Key clinical features to identify girls with CDKL5 mutations.49
205131422010Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.48
187014572008CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail.45
160152842005Early onset seizures and Rett-like features associated with mutations in CDKL5.40
166117482006CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.40
166117482006CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.40
169358602006Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation.40

Citation

Dessen P

CDKL5 (cyclin dependent kinase like 5)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43206/cdkl5-(cyclin-dependent-kinase-like-5)