Property Summary

NCBI Gene PubMed Count 71
Grant Count 3
Funding $930,208.34
PubMed Score 123.29
PubTator Score 156.49

Knowledge Summary

Patent (4,650)

Expression

  Differential Expression (17)

Disease log2 FC p
astrocytic glioma -3.200 0.004
ependymoma -3.000 0.001
oligodendroglioma -2.800 0.000
glioblastoma -3.300 0.000
osteosarcoma -1.343 0.000
medulloblastoma -2.900 0.000
atypical teratoid / rhabdoid tumor -3.700 0.000
medulloblastoma, large-cell -3.100 0.000
primitive neuroectodermal tumor -2.600 0.001
adrenocortical carcinoma 1.133 0.026
active Crohn's disease 1.324 0.002
interstitial cystitis -1.400 0.002
adult high grade glioma -3.100 0.000
pilocytic astrocytoma -2.700 0.000
lung adenocarcinoma -1.100 0.000
ovarian cancer 1.300 0.015
pituitary cancer 1.200 0.001

Synonym

Accession O76039 G9B9X4 Q14198 Q5H985 Q8IYC7 Q9UJL6
Symbols ISSX
STK9
EIEE2
CFAP247

Gene

PDB

4BGQ  

  TechDev Info (1)

Gary Johnson Kinome profile via MIB/MS Technology

Gene RIF (63)

PMID Text
26701947 Mutations in exon 8 of cyclin-dependent kinase-like 5 gene were determined to be disease-causing in epileptic encephalopathy.
25864828 It was indicated that CDKL5 controls excitatory synaptic transmission and the conditions associated with CDKL5 deviation in man indicates synaptic abnormalities.
25762588 study presents the genotype of 2 sisters, a CDKL5 mutation c. 283-3_290del, but different phenotype
25315662 Data suggest that the increased dosage of cyclin dependent kinase like 5 protein(CDKL5) might have affected interactions of this kinase with its substrates, leading to perturbation of neurodevelopmental and neurobehavioral abnormalities.
25266480 CDKL5 gene mutations accounted for 5.4% of boys with early onset epileptic encephalopathy
24738188 Its mutation causes Rett syndrome.(review)
24564546 Mutations in the CDKL5 gene associtaed with Hanefield variants of Rett syndrome and early-onset epileptic encephalopathies.
23828526 study described the clinical condition and characterization of two first Brazilian patients with CDKL5 mutations, including the first Brazilian case of atypical Rett related to abnormalities in this gene
23756444 CDKL5 gene is not useful in practical molecular diagnosis of atypical Rett syndrome.
23583054 aberrations of CDKL5 and ARX combined are an important consideration in the genetic forms of early-onset epilepsy in boys
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AA Sequence

MKIPNIGNVMNKFEILGVVGEGAYGVVLKCRHKETHEIVAIKKFKDSEENEEVKETTLRELKMLRTLKQE      1 - 70
NIVELKEAFRRRGKLYLVFEYVEKNMLELLEEMPNGVPPEKVKSYIYQLIKAIHWCHKNDIVHRDIKPEN     71 - 140
LLISHNDVLKLCDFGFARNLSEGNNANYTEYVATRWYRSPELLLGAPYGKSVDMWSVGCILGELSDGQPL    141 - 210
FPGESEIDQLFTIQKVLGPLPSEQMKLFYSNPRFHGLRFPAVNHPQSLERRYLGILNSVLLDLMKNLLKL    211 - 280
DPADRYLTEQCLNHPTFQTQRLLDRSPSRSAKRKPYHVESSTLSNRNQAGKSTALQSHHRSNSKDIQNLS    281 - 350
VGLPRADEGLPANESFLNGNLAGASLSPLHTKTYQASSQPGSTSKDLTNNNIPHLLSPKEAKSKTEFDFN    351 - 420
IDPKPSEGPGTKYLKSNSRSQQNRHSFMESSQSKAGTLQPNEKQSRHSYIDTIPQSSRSPSYRTKAKSHG    421 - 490
ALSDSKSVSNLSEARAQIAEPSTSRYFPSSCLDLNSPTSPTPTRHSDTRTLLSPSGRNNRNEGTLDSRRT    491 - 560
TTRHSKTMEELKLPEHMDSSHSHSLSAPHESFSYGLGYTSPFSSQQRPHRHSMYVTRDKVRAKGLDGSLS    561 - 630
IGQGMAARANSLQLLSPQPGEQLPPEMTVARSSVKETSREGTSSFHTRQKSEGGVYHDPHSDDGTAPKEN    631 - 700
RHLYNDPVPRRVGSFYRVPSPRPDNSFHENNVSTRVSSLPSESSSGTNHSKRQPAFDPWKSPENISHSEQ    701 - 770
LKEKEKQGFFRSMKKKKKKSQTVPNSDSPDLLTLQKSIHSASTPSSRPKEWRPEKISDLQTQSQPLKSLR    771 - 840
KLLHLSSASNHPASSDPRFQPLTAQQTKNSFSEIRIHPLSQASGGSSNIRQEPAPKGRPALQLPDGGCDG    841 - 910
RRQRHHSGPQDRRFMLRTTEQQGEYFCCGDPKKPHTPCVPNRALHRPISSPAPYPVLQVRGTSMCPTLQV    911 - 980
RGTDAFSCPTQQSGFSFFVRHVMREALIHRAQVNQAALLTYHENAALTGK                        981 - 1030
//

Text Mined References (80)

PMID Year Title
27315173 2016 Characterisation of CDKL5 Transcript Isoforms in Human and Mouse.
26701947 Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene.
25864828 2015 [Towards elucidating the regulatory roles of CDKL5 in synaptic transmission].
25762588 2015 Two Siblings With a CDKL5 Mutation: Genotype and Phenotype Evaluation.
25315662 2015 Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
25266480 2014 Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.
24738188 2014 [Clinical features in Rett syndrome: MECP2-, CDKL5- and FOXG1- related disorders].
24564546 2014 Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.
23828526 2013 Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients.
23756444 2014 Mutations in the C-terminus of CDKL5: proceed with caution.
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